1 ةحفص Prepared by dr.mohammed abdalla khidir

Prepared by dr.mohammed abdalla khidir 1صفحة


LMNL /floppy infant

Task : examine lower limb of the baby:

1. G. look :

- observation : head lag / Frog like Posture / Alert / Bell shaped chest./see –

saw respiration.

- Equipments : O2, wheel chairs.

- Growth

- Dysmorphism

2. inspect for 7 things :

- Muscle bulk : calf hypertrophy ….DMD.

- Posture : frog like

- Movement : fasculation.

- Contracture

- Scar .

- Leg descripency.

3. gait - if pt can walk :

- waddling gait indicate : DMD , SMA

- high steppage gait : HMSN.

- if pt. cannot walk (infant / spina bifida / SMA.)….do TPR.

4. T.P.R.( L.M.N. lesion)

- Tone: hypotonia

- Power : reduced.

- Reflexes : absent

5. then look for back and tongue , calf hypertrophy , grip hand of pt :

- Look to the Back :

If ugly scar ……this spina bifida , then examine head for hydrocephalus.

If no scar in the back …Look to tongue .

- Look to the tongue

If fasculation this … SMA.

If no fasculation ….. look to calf

- Look to the calf :

If calf hypertrophy this ……….DMD.


If no calf hypertrophy …shake hand …if fail to relax means …..myotonic

dystrophy

6. To complete my exam I would like to examine:

- CRANIAL NERVES : esp. 7th CN (in GBS)

- Check for sensation.

discussion

∆∆ of floppy infant :- ( central and peripheral causes)

A. Central : only floppy except CP ( floppy +weak)

1. Brain :

encephalopathy , ICH .

degenerative disease : infantile gaucher , zellweger's.

2. Spinal cord:

spina bifida

transaction of spinal cord , haematoma , tumor.

B. Peripheral : floppy and weak.

3. Anterior horn cell :

Werdnig-Hoffman D - AR(Alert / Frog like position /Bell shaped chest).

Poliomyelitis .

4. Nerve fibre :

GBS.

5. Neuromuscular junction :

transient neonatal myasthenia gravis

botulism

6. muscle :

congenital Myotonic Dystrophy - AD (mother – expressionless face/

Grip/avoid G. Anesthesia )

Cong- Myopathy

Congenital muscular dystrophy.

Pompes disease.

7. Others :

Prader-willi Syndrome.

Down Synd.

Chronic illness : hypercalcaemia , RTA , rickets , hypothyroidism , coelic

disease , cystic fibrosis , failure to thrive.


∆∆ OF LMNL in older child (neuromuscular disease )

1. Anterior horn cell :

SMA II,III (tongue fasculation)

Polyomyilitis ( asymmetrical weakness)

2. Nerve fibre :

HMSN or peroneal muscular atrophy.

GBS

Leukodystrophy .

Posions.

3. Neuromuscular junction : myasthenia gravis.

4. Muscle :

Muscular dystrophy (Duchene , becker's , fascioscapulohumral , limb

girdle dystrophy)

Myotonic Dystrophy - AD (mother – expressionless face/ Grip/avoid

G. Anesthesia )

Cong- Myopathy

Inflammatory : dermatomyositis

Metabolic : GSD.

Thyroid

Steroids.

Investigation of flopy infant :

1. chemistry :

S. Ca ……HYPERCALCIAMIA/RICKET.

U&E ……..RTA

T.F.T. ………HYPOTHYRODISM.

2. Metabolic screen….ZELLWEGERS/GAUCHER .

3. TORCH Screen.

4. Chromosomal Analyses. (Prader W.S. / Down S. )

5. others :


Dd If Only Lower Limb Affected :

- Transverse myilitis (sensory level here).

- Spina bifida .

- HMSN

- Early GBS

- Poliomyelitis.

Dd if upper limb only affected :

- Brachial plexuses injury "erb's palsy , klump's" ……give unilateral LMNL.

- Syringomylia

Management : MDT according to cause.:


Approach to ataxic patient

1. G. Observation

- Growth .

- Dysmorphism

- Equipments

- 7 observational

In freidrich ataxia : muscle wasting distally , pes cavus

In ataxia telengectasia : telengectasia in eye , may be in cheeks and

ears.

2. gait :

- Ask him to walk straight : if unsteady and/or broad based

signify:

- Cerebellar dysfunction , or

- Sensory loss.(Posterior column).

Then ask him to :

- Tandem gait and turning back.

- Stand still with two feet together and open eyes (fall towards the

side of the cerebellar lesion if unilateral)

- Romberg's sign( feet together with closed eyes ) if + ve sign tend

to fall.

+ ve sign : signify ataxia due to posterior column(loss of

position and vibration) , e.g friedreich ataxia.

- ve sign : signify ataxia due to cerebellar lesion , e.g: ataxia

telengetasia

Then you can do sitting and standing/gower sign to

differentiate ataxia from proximal myopathy (DMD) and

peripheral neuropathy(HMNS).

3. Back examination :

- Kyphoscolosis :in freidrich ataxia

4. Cerebellar Examination

i. Dysartheria ( ask the child question) ,looking for staccato speech

- What is your name?

- How old are you?

- Are you study in school?

- For older children let them say : britich constituation

- +ve in both types.

ii. Check eyes for telengectasia and Nystagmus (moving eyes laterally →

Toward the lesion ) by doing H-test.:


- Telengectasia in Ataxia telengectasia ( then look for telengectasia

in cheecks and behind ear) .

- Nystagmus in both

iii. Test Coordination (Finger nose test "upper limb " / heel shin test " lower

limb") to look for :

- Dysmetria: over shooting

- Intention Tremor.

- Incoordination in both : freidrich and ataxia telengectasia.

iv. Check Dysdiadokinesis (rapid alternating movements of hands)

5. TPR + babniski + clonus + sensory :

- In freidrich ataxia : hypotonia , absent reflexes., upgoing babniski ,

loss of position and vibration sense.

- In ataxia telengectasis : N/ reduce tone, power , reflex ,

normal/flexor babniski., normal sensation.

6. I want to complete my examination by:

- Examine abdomen for Hepatosplenomegaly "ataxia telengectasia"

- Eye for palioedema …… space occupying lesions….."ataxia

telegectasia".

- Ask mother about development and school performance:

developmental delay in …………………………….."ataxia telengectasia "

- Ask mother about recurrent infection ………."ataxia telegectasia".

- CVS : systolic murmur "HOCM" in ………………" friedrich ataxia"

- EYE for optic atrophy in……………………………." freidrich ataxia."

- Hearing assessment : impaire hearing in……." freidrich ataxia"

- Check blood glucose : high RBS in ………………" freidrich ataxia".

Discussion

Dd of Ataxia

A/ acute ataxia:

- Infectious and post infectious (chicken pox / measles/mycoplasma )

- Hydrocephalus ,tumors

- Drugs ( phenytoin). Alcohol.

- Metabolic Disorder .

- vascular :basilar artery thrombosis

B/ intermittent ataxia:

- Migraine .

- Epilepsy .

- Hartnup Disease (intermittent ataxia) .

C/ chronic ataxia:


- Cerebellar Anomaly ( Dandy-Walke D. / Joubert Syn.)

- Friedreich' Ataxia (cerebellar degeneration + peripheral

neuropathy).

- Ataxia Telangictesia.

- Metabolic Disorder (Wilson D. / Leukodysrtophy / Refsum D."

I.R.A.").

- perinatal acquired (Ataxic C.P).

Dd of ataxia with upper motor neuron lesions : hyperreflexia and upgoing planter.

- Cerebrilitis as part of encephalitis

- Ataxic CP.

- Wilson

- Joubert

- Ataxia telangectasia.

n.b : Friedrich ataxia is upper motor + hyporeflexia (and not hyperreflexia.)

dd of mixed lower and upper limb (hypotonia and uppgoing reflex):

- Mixed CP

- Fridrechrich ataxia

- Vitamin E def.

- Demyelination MS.

Friedreich ataxia Ataxia telengectsia Ataxic CP

Chromosome AR-CH 9-late childhood AR – CH 11 - early -

Romberg sign Positive Negative Negative

Site involved -spinocerebellar tracts. -corticospinal pathways -posterior columns degeneration

-Spinocerebellar tract.

TPR - reduce tone. - reduce power. - absent reflex.

- reduce/N tone. - reduce/N power. - hypo " after 8yrs"/N reflex early in life.

- hypertonia - reduce power - hyperreflexia

Babinski Upgoing Normal/flexor Upgoing

Sensory -Loss of joint position /vibration No sensory loss No sensory loss

Cerebellar sign -dysarthria -intention tremor/ dysmetria -dysdiadochokinesis.

-dysartheria -poor coordination.

Eyes -Nystagmus -optic atrophy

-Telengectasia at 5yr. -nystagmus. - ophthalmoplegia.

Cardinal features -Kyphosclosis -Pes cavus

Telengectasia in cheecks and ear

Complications -HOCM./arrhythmias -increase risk of DM -optic atrophy

-⬆ Risk of malignancy (non Hodgkin lymph/ leukaemia /brain tumours)


-Recurrent Infection -developmental delay

Investigations Normal - ⬇IgA/IgG2-4/IgE -⬆α Feto P. - eosinophilia.

Management -Supportive - supportive + - Control Infection. - F/up of malignancy - avoid radiology

Prognosis -wheel-chair at 20yr . -Death at 50 y. Cardiopulmonary D.

-wheel-chair at teenage -Death: Pulmonary D.

ATAXIA TELENGECTASIA

Diagnosis of ataxia telengectesia :

- Clinical features (suspected): ataxia + telegectesia + infection.

- Laboratory ( confirmed) :

increase alfa fetoprotein

low IGA , IGE , IG2-4

def. or absence ATM protein.

- MRI BRAIN : cerebellum atrophy later in life/ brain tumor.

- Chromosome fragility test.

DD of ataxia telegectascia :

- Ataxic CP.

- FRIEDREICH ATAXIA.

- COGAN OCCULOMOTOR ATAXIA.

Treatment of ataxia telengectasia : symptomatic and supportive by MDT.

- Speech therapist

- Occuptional Therapist

- Phisotherapist

- Ophalmologist

- Dietein

- Social worker

- Education psychologist.(usually normal IQ, but 30% have mental

retadation)

- Parent education : to avoid radiation.

- Treatment of infection and Vaccinations tetanus , HIB ,

- Treatment of malignancy.

- Genetic counseling.

Friedreich ataxia


Clues : older child with ataxia , Romberg positive , upgoing planters , absent

ankle reflex and pes cavus = freidreich ataxia.

Lesions : pyramidal tract dysfunction (cerebellar degeneration and peripheral

neuropathy.)

Investigations of friedreich ataxia :

- MRI : show cord atrophy , cerebral MRI normal till advance

disease.

- Somato sensory evoked potential reduce. While conduction velocity

normal.

- Gene study (confirm the diagnosis): farataxin gene

Management of friedreich ataxia: MDT

- Speech therapist

- Physiotherapist

- Occupational therapist

- Ophthalmologist (optic atrophy)

- Cardiologist : ACEI + DIGOXIN (HOCM/ arrhythmia)

- Endocrinologist (DM).

- Orthopedic surgeon (KYPHOSCOLOSIS)

- Drugs trial : interferon gamma , nicotinamide.


Cerebral Palsy

WHAT IS DEFINITION OF CP ?

- A group of Persistent Disorders of Posture and Movement due to Non

Progressive insult of Immature Brain " upto 4 yrs".

- The motor disorders are often accompanied by disturbance of sensation,

cognition, communication, perception and/or behavior and/ or a seizure

disorder”.

What are Types of CP ? physiological types :

A. SPASTIC:

- Commonest ( 60-70 % ) .

- affect pyramids "pyramidal ", upper motor neuron .

- symmetric or asymmetry.

- 4 types ( anatomical types ):

1. Diplegic:-

- Both side of the body affected ( Lower Limbs affected more than upper limb)

- NO Bulbar Palsy .

- Children may be not walk.

- Common in preterm , LBW.

- Ass with :

1. Perinatal problems (mainly) ⤍ asphyxia—P.V.L.Malacia.

2. Prenatal (TORCH / Fetal Alcohol S. )

3. Low Birth Wt. (Little's D.)

4. genetic causes : osteogensis imperfect.

5. acquired causes : hyperviscosity

2. Quadriplegic :-

- Both side of the body affected ( Upper Limbs affected more than lower limb)

- ass with severe Contractures and Spasticity ( Wind Swept Deformity + Hips

dislocation + Scoliosis )

- Bulbar Palsy : they have problem in swallowing and feeding.

- severe mental retardation , fits are common.

- Common in full term ass mainly with HIE.

3. Hemiplegic:-

- Weakness more distally.

- Associate with Epilepsy + Sensory defect + Cranial N. defect

- NO Bulbar Palsy .

- Children will walk by 18 – 24 months.


- Ass with :

Periventricular Leukomalcia " in preterm baby".

Hge disease of newborn. " in Term baby ".

Sickle cell anaemia

strock

4. monoplegic : not common.

B. Dyskinetic : (10 – 20 %) :

- extrapyramidal – basal ganglia

- Total body involvement : Central hypotonia " neck , trunk " , spastic of limbs.

- Subdivided into 2 types : dystonic and athetoid types

Athetoid movement : Involuntary movements

Dystonic movement : abnormal posture of trunk

- Common in FT., ass with : kernictrus and , Neonatal Encephalopathy.

C. Ataxic : 10 -15%

- extrapyramidal – basal ganglia.

- total body involvement .

- cerebellar ataxia ( ass with Diplegia) diagnosed late.

- You must R/O : cerebellar tumors , friedreich's ataxia , ataxia telangiectasia ,

metachromatic leukodystrophy.

D. mixed type : 10%

- choreo athetotic cp.

- Ataxia and diplegia = Have mix of features .

- ass with kernicterus

What Are Causes Of Cp As General?

1/ PRENATAL : 85 – 90 %

o genetic forms.

o cerebral malformation .

o maternal alcohol / substance use.

o infections : TORCH

o IUGR.

o Prematurity particulary under 32 weeks.

o Vascular factors : CHD , DIC , coagulpathy .

2/ PERINATAL :


o Neonatal encephalopathy : ask about seizures , and may be used

neuroprotection (cooling ) (

o Periventricular leukmalacia

o Ventricular haemorrhage (ask about head scan)

o Severe untreated hypoglycaemia , jaundice : severity and duration.

o Sepsis.

3/POSTNATAL : 10 – 15 %

o Infections : Meningitis/encephalitis

o Vascular : Stroke.

o Asphyxia due to drowning ,or aspiration.

o Head injury .

How can diagnosed CP ?

- Thoroughly detail history to get the clue of CP .

- through examination : developmental delay diagnosed between 6-18

months.

- MRI changes.

What is Management of CP ?

a. Admission .

b. History :

Clinical history, high risk factors and family history important ,

History of neurological deterioration

c. Examination and evaluation :

full examination including v/s , anthropromtric measures.

Medical Evaluations:

Pediatric Neuro-development exam

Screen for regulatory disturbances, sleep,

feeding, and behavior

Screen for ophthalmic problems

Screen for auditory impairment

Evaluations by speech language therapists, occupational

and physical therapists,

Evaluation by clinical neuro-psychologists

Educational evaluation by either a psychologist or special

educator

d. Investigations

No specific tests


Most important investigation is an MRI Intracranial lesions study (

include MRI of spinal cord if indicated)

- Other Laboratory Investigations: (looking for general check , complications of

CP , alternative diagnosis):

CBC , blood CS . CRP.

Chemistry panel :RFT , LFT , SE

Urine screen for amino acids, organic acids, carnitine.

Plasma ammonia, lactate, pyruvate, acyl-carnitine, very long chain

fatty acids

CPK ( In very hypotonic weak children)

Imaging :

C-XRAY. , ABD U/S

UPPER GIT ENDOSCOPY.

C.T / M.R.I. Head :

CT for emergency and better to detect pathology related to bone .

while MRI is better for soft tissue , brain atrophy , ventricular

dilation.

MRI spine if there is lower motor neuron sign.

- OTHERS :

24 PH STUDY.

Chromosomal analysis.

E.E.G.

Metabolic screen including CSF.

Congenital Infection " TORCH" Screen .

Genetic studies including DNA studies when indicated.

Indication of Investigation:- investigation not done routinely in CP.

No obvious cause found by HX.

developmental regression - Loss of Skills." Metabolic ".

+Ve Family HX of C.P.

Neonatal Encephalopathy.

Un usual features .(ataxia , nystagmus)

L.M.N. findings.

Symmetrical Signs.

e. Take more input from different specialist by (Multidisciplinary Team are ):

1. Pediatrician/ neurologist : Coordinator and prescribe :

Antispacity "muscle relaxant " :

Baclofen tabs .


botulinum toxin inj.in the (to relief pain from

contracture)

o It's last effect 3-6 months.

o S/E : pain at site of infection , dysphagia,

weakness.

Anticonvulsant

Hyoscine patch / anticholenrgic drugs: for excessive

salivation

2. Physiotherapist: should be involve early to Prevent Contractures.

Splints may be used at night to prevent contracture

3. Occupational-therapist:

Adapting the home environment to aid the child's

functioning.

Adapting Playing at home to aid development.

4. Communication-therapist:

Help early in feeding .( due to swallowing difficulties).

Help later in Speech .

encourage Parents to stimulate their children.

5. Social Worker: play a major role

Family Support financially

arrange Holydays + Social admissions.

respite care house( big home to put child to give relief for

parents).

6. Dietician :

prescribe high calorie of food .

f/up of weight by plotting in special charts.

7. others :

Orthopaedic surgeon : responsible for

Surgery as last resort.: in case of severe

contracture.

o Soft tissue release : muscle

o tendon release : elongate elongation of

Achilles tendon after 5yrs of age.

o after surgery put in cast and then orthosis

to prevent weakness and atrophy of muscle.

Neurosurgeon : responsible for

elective rihztomy.(to cut specific nerve to release

spasticty ).

Correction of scolosis .


Psychologist : for hyperactivity disorders and parent counselling.

Play-therapist

Teacher : Special Educational Needs Agencies to ensure that pt

attends suitable school

E.N.T. /eye sp.

f. Treatment of complications of CP :

MSS :

Spasticity of muscles and Joints Contractures : treated by

o physiotherapy

o antispastic drugs : baclofen , botulnum , surgery

o support : splint , orthosis.

Scoliosis

Osteopenia : ttt by vit d , syrp ca , bisphosphanate in case of

frequent fractures.

GIT :

Swallowing problems and feeding problem ( due to weakness

of muscles of phyranx ) ttt by gastrostomy feed.

Excessive salivation "saliorihuria ".TTT by hyoscine patch/ oral

anticholnergic drugs / ligation or reimplanted of salivery

glands duct.

G.E.R.D.(Pseudo B.Palsy.).

Constipation due to lack of mobility and decrease of fiber

intake.

CNS :

Convulsion

Hearing problem

Vision problem: squint , refractory error ttt by optimetrist

RS :

wheezy chest due to frequent aspiration

GROWTH AND DEVELOPMENT :

Poor Wt gain.: high calories through gastrostomy tube.

Learning Difficulties

Developmental delay.

Speech problem due articulation defect ttt by speech

therapist.

Sleeping problems.


Cranial nerves examinations

- General look for : dysmorphology ,nutritional status.

Olfactory:

- Any problem in smelling.?

Optic nerve:

1. General look for :

- dysmorphology ,nutritional status.

- inspect Eyes (Lids / Conjunctiva / Cornea / Pupil / Lens. ) for (squint ,

ptosis , nystagmus ):

If you discover any abnormality like :nystagmus , ptosis , or squint

direct your examination toward that problem.

If you are not discover any abnormality , may be normal eyes and

do the following steps.( 2,3,4,5,6,7)

2. Ask if wearing Glasses / Lens.

3. Visual Acuity : each eye separately ( near –Book // Far - snellen Chart).then

you can check for counting fingers , movement of hand , distinguishing light

from dark.

4. Visual Fields : each eye separately (at 2-5-8-11 oclock)

5. Accommodation: ask baby to fix their gaze on your finger held in front of your

face and then move finger towards baby eyes till touch nose.

6. Pupil Responses ( Direct / Consensual light reflexes )

7. Fundoscopy for red reflex.

3rd ,4th ,6th cranial nerves :

- Eye movement both eyes at the same time (support the head) in H-shape

manner.

- And ask to tell you if see two finger at any point.

5th cranial nerve :

- Motor : Ask him to clenched teeth and feel for masseters muscle.

- Sensory : test light touch in 3 divisions of 5th CN. Close your eyes and say yes

when you feel me touch you. And is it same on both sides ?

7th cranial nerve :

- Motor : raise your eyebrows , close your eye tightly and not let me open them

,puff out your cheecks , show me your teeth .


Corneal reflex not tested as too painful.

- Sensory :taste sensation in ant. 2/3 of the tongue.

8th cranial nerve :

- Cochlear :

In infant : distraction test.

Weber's test : 512 Hz tuning fork in centre of frontal bone and

compare two sides :

Sound louder toward the side of conductive deafness

sound away from side of either sensory neuronal or normal.

Rinne's test :tuning fork placed on mastoid bone and when disappear

put in front of ear or reverse :

In conductive deafness…. bone is louder

In sensory neural deafness or normal ….air is louder.

- Vestibular : nystagmus check when assess eye movement.

9th and 10th CN:

- Motor : Gag reflex - Ask pt. to say "Ah" and observe for symmetrical elevation

of the palatal arches . voice dysphonia . swallowing intact.

- Sensory : sensation of post 1/3 of tongue , soft palate .

11th CN.:

- Can you shrug your shoulders?

- Turn your head against my hand to look over your shoulder.

12th CN:

- Look tongue for :

wasting and fasculation.(LMNL).

- Stick out your tongue.

- Push my finger from outside by your tongue inside.

Examination of cranial nerves in baby/toddlers :

- 3rd , 4th , 6th CN : with toys .

- CN 7 : observe for symmetry of smile.

- CNs 7,9,10,12 : suck and swallowing .

- CNs 7,9,12 : speech :

Stammers : normal

Delayed : learning difficulty , autism.

Difficult to understand (dysartheria ) : CP , speech disorder.


Monotonous : deafness.

- Cn 12 : stick out your tongue.

Cranial nerves examinations

- General look for : dysmorphology ,nutritional status.

Olfactory:

- Any problem in smelling.?

Optic nerve:

8. General look for :


- inspect Eyes (Lids / Conjunctiva / Cornea / Pupil / Lens. ) for (squint ,

ptosis , nystagmus ):

If you discover any abnormality like :nystagmus , ptosis , or squint

direct your examination toward that problem.

If you are not discover any abnormality , may be normal eyes and

do the following steps.( 2,3,4,5,6,7)


10. Visual Acuity : each eye separately ( near –Book // Far - snellen Chart).then

you can check for counting fingers , movement of hand , distinguishing light

from dark.

11. Visual Fields : each eye separately (at 2-5-8-11 oclock)

12. Accommodation: ask baby to fix their gaze on your finger held in front of your

face and then move finger towards baby eyes till touch nose.



3rd ,4th ,6th cranial nerves :

- Eye movement both eyes at the same time (support the head) in H-shape

manner.

- And ask to tell you if see two finger at any point.

5th cranial nerve :

- Motor : Ask him to clenched teeth and feel for masseters muscle.

- Sensory : test light touch in 3 divisions of 5th CN. Close your eyes and say yes

when you feel me touch you. And is it same on both sides ?


7th cranial nerve :

- Motor : raise your eyebrows , close your eye tightly and not let me open them

,puff out your cheecks , show me your teeth .

Corneal reflex not tested as too painful.

- Sensory :taste sensation in ant. 2/3 of the tongue.

8th cranial nerve :

- Cochlear :

In infant : distraction test.

Weber's test : 512 Hz tuning fork in centre of frontal bone and

compare two sides :

Sound louder toward the side of conductive deafness

sound away from side of either sensory neuronal or normal.

Rinne's test :tuning fork placed on mastoid bone and when disappear

put in front of ear or reverse :

In conductive deafness…. bone is louder

In sensory neural deafness or normal ….air is louder.

- Vestibular : nystagmus check when assess eye movement.

9th and 10th CN:

- Motor : Gag reflex - Ask pt. to say "Ah" and observe for symmetrical elevation

of the palatal arches . voice dysphonia . swallowing intact.

- Sensory : sensation of post 1/3 of tongue , soft palate .

11th CN.:

- Can you shrug your shoulders?

- Turn your head against my hand to look over your shoulder.

12th CN:

- Look tongue for :

wasting and fasculation.(LMNL).

- Stick out your tongue.

- Push my finger from outside by your tongue inside.

Examination of cranial nerves in baby/toddlers :

- 3rd , 4th , 6th CN : with toys .

- CN 7 : observe for symmetry of smile.

- CNs 7,9,10,12 : suck and swallowing .

- CNs 7,9,12 : speech :


Stammers : normal

Delayed : learning difficulty , autism.

Difficult to understand (dysartheria ) : CP , speech disorder.

Monotonous : deafness.

- Cn 12 : stick out your tongue.


Neurofibromatsis-1

Tasks :

- Look at this Child/skin & Do other necessary examination ?

- If task lower limb examination : start with gait , back , then lower limb and

systemic examination.

1. General approach : rapport to detect learning disabilities.

2. General observation :

- Café-au-lait Spots( ≥ 6 ) → Check for axillary Freckling Neurofibromas

.(need good exposure).

- Equipments

- Growth : Short for his age., large head.

- dysmorphism

3. hands :

- pulse : raidofemoral delay due to coarctation of aorta.

- Check B.P High…v.important. due to (coarctation / Renal A.S/

phaeochromocytoma.).

4. Head and neck :

- hydrocephalus and look for shunt if found.

- Neck : neck swelling due to thyroid carcinoma.

5. Eye Exam:

- Inspect for lisch nodule in iris –pigmented hamatoma (more obvious by slit

lamp).

- Inspect for Proptosis "due to optic nerve glioma" . ptosis

- Loss of vision or decrease visual acquity (do Visual field test) due to optic

nerve glioma.

6. CVS:

- Inspection : axillary freckling.

- Auscultate for murmur due to coarctation of aorta.

7. abdomen:

- palpate for any abdominal mass (wilm's / pheochromocytoma)

- Auscultate for renal bruits.(renal artery stenosis).

8. To complete examination by ::

- Back for kyphoscoliosis.

- Legs for Bowing due(by ask him to walk or stand.

- Plot his head , height in growth chart.

- Checking BP.

- Look /Ask for Family HX of similar condition .


Discussion

o Associated conditions

a. Risk of Tumors:

- Wilm'S T. / Phaeochromocytoma./thyroid medullary carcinoma.

- optic glioma , astrocytoma , schwannoma

b. Learning disabilities.

c. Short Stature and growth hormone def. (Endocrinopathy)

d. Hydrocephalus

e. high BP : due to renal artery stenosis , phaeochromocytoma , coarctation.

f. osseous lesions : kyphoscolosis , tibial bowing , pseudoarthorosis.

g. Seizures due to brain tumor.

what is the mode of inheritance?

AD

Two types:

- Type 1 (90%) - AD – CH 17

- TYPE 2 (10%) – AD - CH 22

How you diagnose each type?

Type 1 :need 2 or more of the following to diagnose :

- First degree relative

- Osseous lesion e.g: kyphoscoliosis , tibial bowing

- Optic gliomas (by fundscopy).

- 2 or more lisch (iris) nodules ( by slit lamp examination).

- 2 or more neurofibromas or 1 plexiform neurofibroma

- Axillary or inguinal / perineal freckling

- 6 or more café –au-lait spots : ) more than 5mm pre pubertal or more than

15 mm post pubertal.)

Type 2 (10%): for diagnosis need the following:

- Bilateral acoustic neuromas / or unilateral acoustic neuroma and 1st degree

relative.

OR

- 2 of the following :

Schwannoma

Neurofibroma

Meningioma

Glioma


Juvenile post subscapular lenticular opacities.

Investigations :

- Blood :

CBC .

Urea/electrolytes .

Growth hormone level.

- Urinary catachcolamines.( to r/o pheochromocytoma).

- Imaginging :

Abdominal U/S for phycromocytoma and wilms tumor

CT/MRI brain looking for brain tumor.

- Genetic anylasis.

- Pulmonary function test.

Management :- MDT

1. Pediatrician : F/Up of malignant changes / Growth / Scoliosis / B.P.

2. Pedia-Surgeon :Excision of Neurofibromas.

3. Ortho: managing Kyphoscoliosis

4. Plastic S. : Facial deformity.

5. Speech & Language therapist(Learning disabilities)

6. Eye sp / E.N.T. / Radiologist / Endocrinologist/ophthalmologist/ audiologist

7. child psychiatrist /educational psychologist.

8. Geneticist.

Dd of café au lait spots :

- Ataxia telengectasia

- Tuberous sclerosis

- Fanconi's anaemia.

- Mccune Albright syndrome

- Russel silver syndrome

- Bloom's syndrome

- Gaucher's disease.

- Chediak higashi syndrome

- Normal variant.


Facial Nerve Palsy

Examination:

- General observation :

dysmorphism ,nutritional status

drooping of mouth and absence of nasolabile fold (in affected site.)

- ask pt. to Frown يكشر

- ask pt. to Raise the eyebrows.

- Ask pt. to Close eyes and Not let me open " keep them closed against a

resistance."

- Ask pt. to Smile/show me your teeth.

- Ask pt. to Puff his cheeks

- Ask pt to Whistle

Inorder to complete examination

- I want like to check for taste sensation in ant.2/3 of the tongue.

To complete examination:

In case of lower motor neuron lesion: searching for the cause :

- Check BP

- Look to ears for signs of infection or rash (vesicles of herpz / Ch. Otitis Media

/ Trauma).

- Assess hearing ……acoustic neuroma

- Skin rash for (erythema migrans).

- Eyes for exposure kertitis

- Check for Mumps.

In case of upper motor neuron lesion:

- Check for sign of I.C.P.

- Syndromic Features .

- Check for Head Trauma

Discussion

What are features of fascial nerve palsy ?

- Absence nasolabile fold.

- Loss of taste sensation in anterior 2/3 of the tongue.

How differentiate b/w upper and lower motor neuron lesions?


- U.M.N.(only lower face affected-he can close his eye)………means above

pons

or

- L.M.N.(whole face affected-he cannot close his eyes)………means at pons or

below

What is significant to know upper or lower motor neuron lesions?

- To localize the level of hemiplegia.

What are causes of facial nerve palsy?

a. lower motor neuron lesion:

- Bell's palsy.(commonest)…. Idiopathic.

- Congenital

- Infections :

Rasmsay- hunt syndrome (eruption of herpes zoster vesicle).

Viral infection ……mumps , EBV .

Lyme disease.

- Chronic serious otitis media.

- Guillain – barre (usually bilateral).

- Tumours.---acoustic neuroma.

- Trauma ….forceps delivery.

- Skull fractures.

b. upper motor neuron lesions:

- Cerebral palsy.

- Tumours.

- Moebious syndrome (VI – VII both affected).

Bells Palsy

- Common Lower motor neuron facial palsy

- Usually unilateral , affect upper and lower part of the face.

- Idiopathic.

- Features on affected side :

He cannot close his eyes (bells phenomenon)

Loss of nasolabial fold

No movement.

Facial sensation is normal.

Deviation of the mouth to normal side.


What question you want to ask for the mother ?

- Hx. Of recent viral infection.

Investigations (to exclude other causes)

1. Exclude HTN

2. exclude other causes by INVESTIGATION for :-

- Lyme D…..(serology test)

- Varicella V. …(varicella titres)

- Leukaemia ……(FBC /film) .

- Brain Tumor …..(CT scan)

Management:-

1. Good eye care (most important ): control pain and prevent corneal

infection, drying and abrasion of eye :-

- choramphenicol eye drops , sellotaping of eye , and artifiacial tears.

2. physiotherapy.

3. Steroid ( use in acut bell's palsy if < 7 days duration) : as anti-inflammatory

and immunosuppressant ( but leukaemia , htn , brain tumors and middle

ear disease must be excluded.)

4. Oral Acyclovir .( in case of ramsay hunt syndrome ).

Prognosis:

- Most 2/3 are good Recovery without treatment by 4 weeks-few months.

- Few are partial recover.

- Rare complete paralysis.

Muscular disorder causing facial weakness:

o Mytonic dystrophy

o Facioscapulohumeral muscular dystrophy.

o myopathies.( Mitrochondrial and Congenital).

o Myasthenic syndrome.

Comprasion between bulbar and pseudo –bulbar palsy:

- ® Bulbar Nerves (nerves originate from medulla) i.e : ( IX / X / XI / XII) .

Bulbar Palsy ( L.M.N.):

o Signs of bulbar palsy :

Wasted tongue –fasculation


- ® Pseudo Bulbar Palsy ( U.M.N. Lesion….. most common), poor tongue and

pharynx movement. Associated with spastic quadriplegia

o Signs of a pseudo – bulbar palsy

Stiff spastic tongue but not wasted.

Dry voice and dysartheria.

Exaggerated jaw jerk.

Preserved gag and palatal reflexes.


Spina Bifida

Examine this child L.L. ?

1. G. Look :

- Well looking , wearing nappy or not.

- Equipment : wheel chair or aiding walker ( waddling gait).

- Growth parameters : small for age/large head

- Dysmorphic features.

- Vision : may be blind and wear glasses .

- Hearing :may be deaf and wearing hearing aids.

2. inspect in LL for 7things : mention before

- Muscle bulk : wasting .

- Abnormal posture : frog like posture.

- Abnormal movement : fasculation – spontaneous / induce.

- Neurocutaneous stigmata : pigmentation.

- Scar/ Ulcers in the feet (sensory loss)

- Contracture : e.g TEV ass e spina bifida.

- Leg discrepancy.

3. T.P.R. →L.M.N. Paraplegia (Paraparesis) → hypotonia , hyporeflexia , reduce

power .

4. planter reflex : equivocal / down going.

5. sensation and coordination (if power less than 3 it's difficult).

6. Examine the Back : Scar + Scoliosis

- Scar of meningiomyocele repair (multiple surgical ugly scar)

- Tuft of hair + pigmentation (spina bifida occulta).

7. Head examination for 5S :

- SIZE :

Measure Head Circumference by tape (Hydrocephalus with sunset

eyes).

Arnold – chairi malformation II (due to congenital malformation of

hindbrain lead to displacement of 4th ventricle below foramen

magnum). 80% of cases.

- SHAPE :

- SUTURE :

- SHUNT: VP /VA. Check for patency .

- SCAR.

8. in order to continue :

abdominal examination for :

- wearing nappy – very nappy or not.

- Bladder Examination (palpable → Reflux Uropathy). Neurogenic bladder


Is it Safe or unsafe bladder? If aspirate 20 ml of urine after micturation

this unsafe bladder which mean can cause infection and reflux

uropathy.

- Fecal mass due to constipation.

- Palpable kideny

Check for Patulous Anus(S4-5) .

Cranial nerves esp. abducent / facial.and higer function/coordination .

Plot in growth chart.

Check BP and pulse to r/o increase ICP.

Skin for pressure point to prevent ulcer.

Presentation:

Discussion

- Definition : group of spinal development disorders in which there is protrusion

of vertebral canal contents through vertebral defects.

- Types : 3 types of spina bifida

Meningocele : meninges + CSF.

Meningomyocele : muscle + meninges + nerves + CSF

Spina bifida oculta : defect in bone without protrusion./tuft of hair.

- What is level of the lesion?

o Hip flexion by……………………… L 1 /2

o Hip extention…………………..L5/S1

o Knee extension………………..L 3 /4

o Knee flexion…………............L5/S1.

o Ankle dorsiflexion ……………S1/2

o Ankle planter flexion…………. S1

o Putulous anus ……………………S5

o Distended blader……………….S3

For example if he can flex hip but not extend the knee so the lesion

below L2.

- How you prevent spina bifida?

o Folic acid supplementation

- What is associated problems /complication?

o Joint contractures (TEV) , cong hip dislocation

o Scoliosis.

o Ulcers on the feet.

o Incontinence of urine with risk of reflux neuropathy and recurrent UTI

(manage by intermittent catheterization + oxyputinine ).


o Fecal incontinence ( manage by washing of bowel by enema)

/constipation.

o Learning difficulties/mental retardation.

o Hydrocephalus (Arnold chiari malformation ).

o Seizure disorder

o Latex allergy in 20%.

- What is management plan?

Multidisplenary team : pediatric neurologist is team leader.

o Physiotherapy.

o Urology

o Neurosurgeon.

o Spinal surgeon.

o Social worker .

o Occupational therapist.

o Educational therapist.

- Dd of spina bifida :

SMA (tongue fasculation )

Polymylitis.(asymmetrical muscle weakness).

GBS (symetrical ascending muscle weakness).

HMSN1.

Mythania gravis.

Duschene muscular dystrophy ( calf hypertrophy)

Transverse myilitis.

Syringomylia .

Tethering of the cord.


Gait Examination

TASK : When asked (Do L.L. Exam / Check the Gait / Examine Pt. Legs)….CNS

1/ G. Observation (Growth /Dysmorphic / Equipments / 7 observational )

2/ if he Can walk : do gait anylasis.

- Let him Walk Normally,

- and then according to the gait you will proceed either :

If spastic gait/hemiplegic gait : Tip Toe /Heal / fog /reverse

fog/standing on one foot /Run.

If ataxic gait : Tandem and turning , stand e 2 feet together (e open

eyes and then e closed eyes).

If waddling gait : sit and stand.

o Types of gaits:

i. Spastic gait :

Signify :

Diplegia : upper and lower limb both flexed.

Quadriplegia : both upper and lowerlimb flexed.

If not clear ask to: run …..tip toe….heal ……fog….reverse fog.

Then check the back .

Then T.P.R.+ Clonus + babiniski sign.

ii. Hemiplegic gait : Hemiplegia : upper limb flexed and lower limb

extended.

Same steps like spastic gait.

iii. Ataxic gait : unsteady and/or broad based .

signify:

Cerebellar dysfunction. E.g ataxia telengectasia.

Sensory loss. e.g frierdeich ataxia.

Then ask him to :

Tandem gait and turning back.

stand with two feet together with open eyes (fall towards

the side of the cerebellar lesion):

+ve in ataxia telengectasia.

-ve in freidrich ataxia.

Romberg s sign( feet together with closed eyes ) if + ve

sign tend to fall .

+ ve sign : signify ataxia due to posterior column , e.g

freidrich ataxia.


telengetasia


Then T.P.R / Cerebellar Exam .

iv. Waddling gait : (bilateral trenderburg )

Signify : Proximal myopathy eg: DMD/becker , SMA III(LMNL).

Then ask to do either:

Complete gower sign : ask to stand from lying down supine.

OR

Incomplete gower sign : ask to stand from sitting position

If gower sign is positive , then proceed :

See if either calf muscle hypertrophy and winging

scapula (DMD)

Examine for fine tremors , if positive this SMA III , SO

confirm by deltoid and tongue fasculations.

v. Foot drop gait :(high –steppage gait)

signify : Peripheral neuropathy (lower motor neuron lesion) e.g:

HMSN.

Then ask to :

Sit from standing position

Look for wasting , pes cavus (inverted champion bottle

leg).

vi. Trendelenburg gait (non-painfull limp): the affected hip is lower than

unaffected hip (stay more on affected side).

Signify :

Congenital hip dislocation

Muscular dystrophy

Slipped capital femoral epiphysis.

(Trendelenburg +Ve / —Ve "Antalgic" ) → Then back/T.P.R.

vii. Antalgic gait ( painful limb): the affected hip is higher than un affected

hip (stay less on affected side).

signify

Infection

Trauma

Perthes disease

JIA.

If + ve antalgic ….do musculoskeltal examination.

3) If he can't walk :

So may be LMN lesions.( Spina Pifida/SMA ).

T.P.R. + Back + Head+ Bladder + Anus


Haemiplegic (CP)

A/General observation:-

- Growth : usually small for his age +/- small head need to plot his weight ,

height , HC on appropriate growth chart .

- Dysmorphism

- Equipments : NG , central line , IV line , O2 by face mask , connect to

monitor.

- Comment on his vision : is he wearing glases ? , or following and fixing you

(blind ).

- Comment on hearing

B/ inspection for 7 Features :

1. Muscle wasting for (whole body and lower limb).

2. Abnormal Posture .

3. Abnormal movement .

4. Surgical Scars

5. Contractures.

6. Neuro- cutaneous stigmata.

7. Leg discrepancy (length) .

C/gait examination:

Hemiplegic Gait : means

o Upper limb (flexion because flexor muscles stronger than extensor): abduction

of shoulder , flexion of elbow , wrist drop and pronation.

o Lower limb (extension : extensor stronger than flexor): hip and knee extension

, planter flexion of ankle , circumduction

- Ask the Pt. to walk , if not clear…..Tip toe walking …..Fog sign …….Reverse fog

sign ………Stand on one foot(3year) …..RUN.

d/ Check the back (Spine) .: for scolosis

e/ T.P.R. + Clonus .+babniski sign

f/ To complete my Exam- I would like to:

Examination of upper limb.

Examine the visual fields & 7th Cranial N. to localize the site of the lesion:


- If lower part of face only affected ….this UMNL 7th CN……the lesion above the

PONS.(the affected site of the face in same site of hemiplegia) then :

If visual fields affected ……….lesion in internal capsule.

If speech is affected ………..lesion is massive in cerebral hemisphere.

- If lower and upper parts of face affect ……LMNL 7th CN…….lesion at or below

PONS (affected site of the face in the opposite site of hemiplegia)

Functional assessment :

Combing hair and brushing teeth.

Also examine : (To know the cause of hemiplegia)

- CVS

- Check BP.

- Rule out sickle cell anaemia.

Ask the mother about Epilepsy.

Do Developmental assessment.

Example of Presentation:

- ali is 5 year old no apparent dysmorphic features , he look small for his age

but I want to plot him in apporiate chart for his age and sex.

- He demonstrate Rt. hemiplegic gait.He has hypertonia , hyperreflexia , reduce

power 4 out of 5 , upgoing planter and positive clonus in Rt lower limb. While

normal Lt lower limb.

- I want to complete my examination by examining upper limb to confirm it is rt

side hemiplegia. Cranial nerves and visual field , And checking for CVS , BP and

to r/o sickle cell anaemia. also functional assessment

Discussion

Causes of hemiplegia as general :

A. Congenital (50%): birth trauma , with antenatal insult.

B. Acquired :-

1. Brain Anoxia :

Periventricular Leucomalacia( common cause in premature baby)

B. asphyxia

Cardiac Arrest.

2. Intracerebral Hemorrhage :-

Hemorrhagic D. of Newborn(commonest cause in term infant)

Hemophilia


I.T.P.

3. Thrombosis :

Hypercoagulable state (Sickle Cell A. / Post-splenectomy / Thalasemia

/ D.I.C. )

Hyper-viscosity (polycythaemia ,Cynotic.H.D. , Dehydration , D.K.A. )

4. Infection (TORCH / Meningitis / Encephalitis/ middle ear abscess )

5. Vascular lesions :

Vascular spasm : Hemiplegic Migraine (on & off ) .

Metabolic D. : abnormal vessels in menkes , Homocystinuria , and

fabry disease.

Mitochondrial disorder: MELAS syndrome

Moya moya disease.

6. Trauma :- ( fall / Birth T / N.A.I. ).

7. Tumors. : glioma

Investigation:

- CBC and PBP..

- Neuro imaging.

- Chromosomal anylasis.

- Metabolic screening.-

- TORCH screen.

- Eye and ENT assessment

- EEG.

Management of haemiplegic patient : MULTIDISPLENARY APPROACH

1. Pediatric neurologist : as Coordinator , His role:

Give backlofan as antispatic

Give anti convulsant.

Follow up.

2. Physiotherapist: Prevent Contractures.

3. Occupational-therapist:

Adapting Environment for child function/ Playing at home.

4. Communication-therapist:

Help in feeding/ Speech /encourage Parents.

5. Social Worker:

Family Support / arrange Holydays + Social admissions.

Respite care : big house to help mother.


6. speech therapiest

7. Dietician:

Gastrostrostomy.

N G feeding.

8. neurosurgeon : help by doing:

Shunt if needed

Selective dorsal rhizotomy.

9. Others : Psychologist/ / Play-therapist / Teacher / E.N.T. / /Ortho Sp / Eye Sp.

Notes about double hemiplegia :

Definition : when pt. showing hemiplegic gait , but both side affected with one side

more than the other.

Causes : vascular , haemorgic , thrombotic ,trauma


Tuberous Slerosis

Task : Examine this child skin and proceede:

A/SKIN:

- Hypopigmented Macules on forearm (Ash leaf) best seen by wood lamp

- Adenoma Sebaceum( erythmatous acneform) in nasolabel fold. present in

children more than 5 yrs.

- Periungula Fibromas .(onset at puberty)

- Shagreen Patches (in lower back)

- Café-au-lait spots

B/head:

- hydrocephalus

C/Teeth :

- Enamel Hypoplasia.

D/eyes:

- choroidal hamartoma

- retinal phakomas

E/CVS

- BP.

- Rhabdomyomas (pansysolic murmur)- appear during neonatal period and

resolve spont.

F/abd:

- Polycystic kidneys

- Renal angiomas

- Rectal polyp.

G/ CNS:

- Tuberous hamartoma.

- Seizures.

- Cerebral astrocytoma

- Malignant glioma

- Hydrocephalus.


Discussion

What is TS ?

- It is neuro cutaneous syndrome ass with epilepsy and intellectuall impairement.

MODE OF INHERTANCE?

- AD

TYPES: two type of gene mutation?

- TSC1……CH 9

- TSC2…….CH16 (polycytic kidney disease 1)

Investigation:-

1. U/S Abdomen (Renal Angiolipomyoma / R.A.Stenosis)

2. Echo for (Rhabdomyoma)

3. ECG ….arrhythmias (WPW SYNDROME).

4. Brain C.T. / M.R.I. (Astrocytoma/ Glioma / Hydrocephalus)

5. E.E.G. ( Infantile Spasm)

6. skull x-ray….calcification

COMPLICATIONS:

- Seizures(70%) as infantile spasm. For this wearing helmet protect from recurrent

fits.

- Learing difficulties (30-60%).

- Autism (25%).

Prognosis:

- Death early due to seizures or tumors of (CNS , HEART , KIDNEYS)

Management:

Multidisciplinary

- Anticonvulsant (vigabatrin for infantile spasm).

- Neuro developmental F/UP.


Duchene Muscular Dystrophy

Examine this child L.L.?

1. general observations:

- Rapport : for speech delay. And cognitive impairment.

- Contracture of acilles tendon/Calf Hypertrophy / Wasted Thighs.

2. gait analysis :

- Walking wide based + with aid(walking frame/ foot orthosis)

- Waddling gait e tip toe with difficulty to go upstairs.and with lordosis.

- Gower sign.(+ve).

3. back:

- Scoliosis → restrictive Lung D.

- Exaggerated lumbar lordosis.

4. Observation for 7things :

5. TPR:

- Tone :hypotonia

- Power : of hip flexor (reduced).

- Reflex : Knee Jerk , Ankle jerk (but will disappear later).

6. to complete examination :

- RS : auscltate and PFM (restrictive lung disease).

- CVS: looking for complications.(, inter ventricular hypertrophy , arrythamia ,

cardiomyopathy)

- Gower sign if not done.

- Developmental assessment.

Presentation:

Discussion

- Definition : commonest muscular disorder of childhood ,due to defect in

dystrophin gene , present b/w ages of 3 and 5yrs with delay walking and

waddling gait.

- Genetic and inheritance :

x-linked recessive , gene locus at Xp21

female may be symptomatic

- Investigation :

1. Creatinine phsokinase (C.P.K).


2. DNA looking for Dystrophin Gene (diagnostic /confirmatory) .

3. E.M.G (electromyography)

4. Muscle Biopsy –defintive diagnosis (histo-chemical study) if any doubt in

DNA study.

5. Antenatal diagnosis is possible.

- Management :-

Multidisciplinary team - supportive

- Pediatrician .

- Physiotherapist to prevent contraction.

- Dietien

- Orthopedic surgeon for spinal fusion surgery

- Occupational / Functional therapist.

- Pulmonogist : Non –invasive ventilation because of restrictive lung disease.

- Cardiologist

- Gentist : genetic counseling , Gene study promising.

- Steroid may play arole .

Complications:

- CVS : Cardiomyopathy , Left ventricular failure ,Arrhythmias.

- Scoliosis in 80%.

- Restrictive lung disease./ cor pulmonale

- Chest deformity and distorted diaphragm result in GERD , haematemesis.

- Speech delay

- Cognitive impiarement.

Poor prognoses:-

- walk unaided till 7 yr → walk with aid 7-12 wheelchair > 12yr .

- Death in 2ed—3ed Decade (Due to: Resp- failure / Cardiomyopathy)

-of Proximal Myopathy : ∆∆

1. Becker Muscular D . ( X.L.) : mild variant of DMD.,

present later , same gene defect of Duchene , abnormal dystrophin.

Better prognosis , rare involvement of heart and respiration.

Same investigation like Duchene.

2. Facio ScapuloHumeral D. (A.D.).:

Facial muscle affected (expressionless)

shoulder girdle muscle affected

winging of scapula

3. Limb Girdle Muscular D. (A.R.).:


Hip and shoulder muscle become atrophied and weak.

Toe walking and waddling gait.

Calf muscle hypertrophy and ankle contracture can develop.

4. Juvenile Dermatomyositis : systemic illness affecting skin , proximal muscle

and GIT . unlike adult type not ass with malignancy. Onset 5-10yrs.

asymmetry helps differniate it from other muscle disease.

Charcterstic heliotropes"upper eye lid" and gottoron rash "extensor

surface of hand". calcinosis is features.

Diagnosis : creatinine kinase rise. , muscle biobsy show atrophy.

Treat: corticosteroids , immunosuppressive –methotrexate.

DD : of calf hypertrophy :


Eye Examination(2nd ,3rd ,4th ,6th )

1. General look for


- inspect Eyes for (Lids / Conjunctiva / Cornea / Pupil / Lens.)

- squint , ptosis , nystagmus .


3. Visual Acuity both eyes separately

- near –Book (1 meter distance).

- Far - snellen Chart.(6 meter distance):

If not see anything make near 3m and then 1m.

Then finger number counting.

Then finger movement.

Then light perception.

4. Visual Field both eyes separatly (at 2-5-8-11 oclock)

5. Eye movement both eyes at the same time (support the head) in H-shape

manner.

6. Accommodation:

- ask baby to fix their gaze on your finger held in front of your face and then

move finger towards baby eyes till touch nose.

- Eye will accommodate by converting medialy and by constriction of pupil

also.


8. Corneal Reflection (Alignment).

9. Cover Un Cover Test:-

- For mild manifest squint (tropia)

- When cover normal eye the squint eye will fix object.

10. alternate cover test:

- For latent squint (phoria)

- When cover the latent squint eye will become squinted under cover , when

remove the cover eye return to it is normal un squnited position.



Diplegic and quadriplegic CP

Diplegic Cp : Lower Limb Affected More Than Upper limb.

Quadriplegic Cp : Upper Limb Affected More Than Or Equal To The Lower

Limb.

A/General observation:-

G. Observation :

- Growth : usually small for his age +/- small head need to plot his weight

, height , HC on appropriate growth chart .

- Dysmorphism

- Equipments : NG , central line , IV line , O2 by face mask , connect to

monitor. Supporting device like wheel chair , orthosis , crutches.

- Comment on his vision : is he wearing glases ? , or not following and

fixing you (blind ).

- Comment on hearing

B/ inspection for 7 Features :

1/Muscle wasting for (whole body and lower limb).

2/ Abnormal Posture for :

- windswept (whole body ) or

- fisting , adduction of shoulder , flexion of elbow and wrist (upper limbs)

and

- cissoring sign , extension of hip , knee , and ankle ( lower limbs)

3/ Abnormal movement for :

- chorea ,…(whole body) .

4/ Surgical Scars

- Tenotomy scar ,Elongation tendoachilis.(lower limb)

- V. rare u found scars in upper limb.

5/ Contractures.: fixed planterflexion / fixed dorsiflexion

6/ Neuro- cutaneous stigmata.

7/ Leg discrepancy (length) .


C/gait examination:

diplegic Gait : means Flexion of both lower and upper limbs ( lower limb internally

rotated and flexed at hips , knee flexed , ankle flexed ).

- Ask the Pt. to walk , if not clear

- Tip toe walking , if not clear

- Fog sign , if not clear

- Reverse fog sign , if not clear

- Stand on one foot(3year) , if not clear

+ Check the back (Spine) : vertebral abnormality , scoliosis.

d/ T.P.R. + Clonus .+babniski sign

e/ To complete my Exam- I would like to:

a) Examination of upper limb (to see if it's diplegia or quadriplegia.

b) Examine the cranial nerves { visual fields & 7th Cranial N.} to ( localize the

site of the lesion , part of CNS exam , for management plan "functional

assessment "):

- If lower part of face only affected ….this UMNL 7th CN……the lesion above

the PONS.

- If lower and upper parts of face affect ……LMNL 7th CN…….lesion at or below

PONS .

- If visual fields affected ……….lesion in internal capsule.

- If speech is affected ………..lesion is massive in cerebral hemisphere.

c) Functional assessment :

Combing hair and brushing teeth.

d) Ask the mother about Epilepsy.

e) Do Developmental assessment.

Presentation:

discussion

Causes of diplegic CP:

1/ PRENATAL :( during pregnancy)

- Congenital TORCH

- chromosomal (genetic )anomalies :osteogensis imperfect.

- toxins (drugs) : fetal alcohol syndrome. Maternal phenylketonuria

- placenta insufficiency .


2/ PERINATAL :

- perinatal asphyxia .

- IVH

- PeriVentricular Leucomalacia.

3/POSTNATAL :

- Low birth weight (littl's syndrome)

- Sagital sinus thrombosis.

- Trauma

- Hypoxic insult due to drawning.

- Meningitis , encephalitis .

- Hypoglycaemia.

Investigation:

- Neuroimaging : CT scan , MRI .

- Chromosomal anylasis.

- Metabolic screening.

- Eye and ENT assessment.

Management:-

MULTIDISPLENARY APPROACH

1/ Pediatric neurologist : as Coordinator

His role:

- Give backlofan as antispastict.

- Give Botulinium toxin type A(botox) is made from bacteria that cause

botulism ….relax muscle as PREVENT release of ACH. it deneravating the

muscle (used for dynamic contracture).

Botox used IM, EVERY 6month for treating cervical dystonia , muscle

spasm in arms and hands., and excessive sweating.

S/E OF BOTOX : fatigabilty

Levodopa in case of botox not effective.


Deep brain stimulation(for internal globus pallidus) in case of

refractory dystonia.

- Give anti convulsant.

- Follow up.

2/ Physiotherapist: Prevent Contractures.

3/Occupational-therapist: Adapting Environment for child function/ Playing at home.

4/ Communication-therapist: Help in feeding/ Speech /encourage Parents.

5/Social Worker:

- Family Support / arrange Holydays + Social admissions.

- Respite care : big house to help mother.

6/Dietician:

- Gastrostrostomy.

- N G feeding.

7/neurosurgeon : help by doing:

- Shunt if needed

- Selective dorsal rhizotomy.

8/ Ortho Surgeon : for release of fix contracture of joint.

9/ Psychologist/speech therapiest / Play-therapist / Teacher / E.N.T. / Eye Sp.

What is little's disease ?

- It's the diplegic CP due to low birth weight

- Normal intelgint , no eplipsy

- Myopia and squent

- Upper limb dyspraxia

- Normal CT scan.

What is the course little disease CP ?

- Dystonic phase : (4-8 moth of age ) characterize by marked extensor

hypertonus , retension of primitive reflex.

- Spastic phase : hyper reflexia, fixed flexed deformities


Sturge weber syndrome

Look to face of this child and proceed

1/ Facial naevus (port wine stain – cavernous haemangioma)

- Unilateral/bilateral.

- Upper face and eyelid.

2/eyes :

- for glaucoma.

- Coloboma.

3/CNS:

- Contralateral hemiparesis(30%)…due to involvement of ipsilateral meninges

and cortex

- Cranial nerve examination….. 5th cranial nerve.

4/ talk to him and ask him simple Q.: for mental retadation

disccusion

ASSOCIATIONS:

- Glaucoma

- Intracranial calcification

- Seizures intractable .

- Learing difficulties(90%) and developmental disorder.

What is sturge weber syndrome?

- It is neurocutaneous syndrome consist of port wine stain (cavernous

haemangioma) involving ophthalmic division of trigeminal nerve ass with

ipsilateral intracranial calcification and contralateral hemiparesis.

What is mode of inheritance?

- Sporadic

What q you want to ask?

- h/o of eplipsy.

What eye problems?

- Glaucoma

- Coloboma


- Retinal detachment.

Investigation:

- Skull X-ray ..rail track (intracranial calcification)

- EEG

- MRI with contrast

- Biobsy from lesion (rare needed).

Management:

- Paediatric neurologist : to give anticonvulsant.

- Neurosurgeon: for hemispherectomy/ lobectomy if sezure difficult to control.

- Ophthalmologist : for Glaucoma management

- Plastic surgeon :Laser for port wine stain(pulse dye laser ) before 1 yr of age.

Freezing , surgery , radiation and tattooing can be tried.

Dd of intracranial calcification :

- TS.

- A-V malformation.

- Cong. Infection. CMV , rubella.

- Brain tumors


Nystagmus

Examination of nystagmus:


2. EYE EXAMINATION :

- Visual acquity

- Visual field

- Eye movement.

- Identify the type of nystagmus

3. To complete :

- Fundus examination.

- Check hearing .

Discussion

What is nystagmus ?

- it describe involuntary oscillation of the eye., which may be horizontal ,

vertical or rotatory .

- it defined by fast phase .caused by lesion in brainstem , cerebellum ,

cervical cord or inner ear.

Types of nystagmus:

a. Jerky : slow and fast phase

b. Pendular: slow in both direction.

or

1. Horizontal:

Cerebellar : jerk , worsens on looking to the side of the lesion , the fast

component is directed towards the side of the lesion.

Vestibular (internal ear) : the slow phase is directed to the side of the

lesion

Congenital : idiopathic , bilateral , familiar and improve by time.

2. Vertical (central) : in any direction

Lesion in pontomedullary junction "brainstem lesion".

E.g: achondroplasia or Arnold – chiari malformation , phenytoin or

carbamazepine toxicity.

3. Rotatery /pendular ( ocular nystagmus) in:

occulocutaneous albinisim

blindness


4. Positional : unidirectional caused by :

benign positional vertigo ,

head injury , post viral labryingitis

If only nystagmus without any other findings: it is congenital nystagmus.

If nystagmus ass with depigmintation it is oculocutaneous albinism


Spinal muscular atrophy

1. General :

- General look : Alert looking , Bell shape chest with see-saw respiration.

- Nuturtional status.


- Equipements.: wheel chair , orthosis.

2. Inspection for 7things in lower limb or upper limb:

- muscle bulk : wasted proximal , legs more than upper limb.

- posture : frog like posture.

- Fasculation

3. Gait :( if can walk.)

- waddling gait …….then Gower sign (positive = type 3)

4. TPR.:

- hpotonia .

- Hyporeflexia or absent .

- reduce power .

5. Babiniski sign : down going.

6. Back : sometimes sclosis.

7. Tongue : fasculation.

8. I want to complete examination by :

- Plot him in growth chart.

- Check for chest b/c of infection.

Discussion :

Definition :

- it is a progressive muscle weakness result from degeneration and loss of

anterior horn cells in spinal cord and brain stem cells.

Types : they are three types :

- Type 1 (werdnig Hoffman disease ) :

Severe form – unable to sit or walk.

present before 6 month of age.

- Type 2 :

Moderate form –able to sit but not walk.


Present by 12 month .

life expectancy longer depend on respiratory complications.

- Type 3 – ( kugel berg – welander disease)

Mild form – able to walk.

present at age of 5-15 yrs.

Genetics :

- AR – ch5.

- Mutation of SMA gene

Investagations:

- Diagnosis clinical

- genetic testing for mutation of SMN1 (survival motor neuron 1).

- Electromyography "EMG": denervation.

- Muscle biobsy: atrophy of muscle fibre.

Complications :

- Poor weight gain – feeding difficulties.

- Respiratory problems : recurrent chest infection , apnea

- Sleep disorder due respiratory problems

- Joint contracture

- Scolosis.

Management: MDT-supportive care.

- Pediatrics neurologist is coordinator

- Respiratory physician to treat respiratory problems :

Non invasive ventilation.

CPAP over night to solve sleep problem

- Physiotherapist to prevent contracture.

- Dietein for feeding difficulties.

- neurosurgeon surgeon to treat scolosis

- Genetic counseling.(AR manner )

Prognosis :

- Type1 : worst never sit and their life span 12-18 monthes.

DD of SMA type 1 (floppy infant )

- Spina bifida


- GBS

- Duchene muscular dystrophy

- Myotonic dystrophy :

Failure of muscle to relax after contraction , affect face , jaw , neck

and distal muscle. Can present as congenital myotonic dystrophy

AD , genetic anticipation , CH19

Clue is the mother who expressionless face ,

Anaethsia is dangerous.

- Congenital myotonic dystrophy :

reduce fetal movement , facial diplegia with triangular facies.

TEV and hip dislocations , and respiratory problems

EMG is investigations.

- Syndromes : trisomy 21 , prader willi.


Chorea

Examine this child with chroeiform movement :


- Position of child : bed ridden , wheel chair , any attachment support.

- Growth : microcephaly in huntingotn chorea.

- Abnormal features:

Sydenham chorea : looks well child , no dysmorphic , alert child.

CP : look for feature of cp , deformities , other association (squint ,

position)

Huntington chorea : usually start late , mental retardation ,

seizure.

- Equipments : walking aids., NGT feeding in Huntington chorea.

- Describe movement type : jerky , irregular movement in extremities that

pt. found difficulties to control look like chorea and it appear cause child

distress.

- Obvious movement of the tongue. , facial twitching.

- Abnormal behavior : mental disability in Huntington chorea , self

mutiulating behavior lesch nyhan syndrome.

2. Hand : for specific signs for chorea .

Pronator signs : ask to extend hands above head and observe

for pronation.

Pianoplaying sign: ask pt to extend hands and observe for

fingers movement.

Milk maid grip: ask pt. to grip ur finger , he will milking ur hand.

Finger nose finger test : assessment for coordination.

Increase BP in thyrotoxicosis.

3. Tongue for :

Darting tongue (jack in box) : pt. cannot able to fix his

tongue out for short time , it will be in and out manner.

4. Eye examination :

- Slit lamp for kyser flisher ring in wilson .

- Jaundice from liver disease due to Wilson.

- Palor for anaemia from chronic disease or haemolytic anaemia from

wilson

- Squint in CP and nystagmus in presence of cerebelar signs.

- Exophthalmous in case of hyperthyroidism

5. Gait for choreiform movement.


6. L L for Motor system examination: either :

- Hypotonia ass with Sydenham chorea

- Spasticity ass with dyskinetic CP.

- Rigidity and dystonia ass. with Huntington chorea.

7. To complete examination :

- CVS : rheumatic carditis. , SLE pericarditis.

- Abdominal examination : hepatomegaly and Signs of portal HTN. In case

of Wilson disease.

- Skin examination : rash of rheumatic fever , SLE rash"malar rash" , cut.

Manifestations of chronic liver disease in case of Wilson.

- Developmental assessment delay in CP and Huntington chorea.

Discussion

What is

Dd of choreform movement :

- CP " chorioathetoid type" : H/O kernictrus .

- Sydenham chorea : previously well , alert , h/o URTI.

- Wilson disease : chronic liver disease

- SLE : skin rash + arthritis in adolescent female.

- Drugs : metachlopromide

- Thyrotoxicosis .

- Benign familial chorea.

- Degenerative diseases :

Huntington.

Moya moya

Lesch nyhan.

Investigations :

- ASOT.

- TFT.

- CAERULOPLASMIN , liver biobsy , s.copper.

- ANTINUCLEAR ANTIBODY.

- BILIRUBIN LEVEL.

- URIC ACID.

- EEG and gentic test , ct scan for huntigton chorea

Management : MDT


- Paedtrian as team leader.

- Neurologist .

- Physiotherapy.

- Occupational therapy.

- Speech therapy.

- Psychiatrist

- Social service

- Management of seizure

- Dietitian.

- Gentist.for genetic couselling.

- Pharmacological :Some drugs can be used

Valporic acid.

Haloperidol

Phenothiazine

Prophylaxis penicillin.

Steroid short course.

- Management of the cause :

Sydenham chorea : Avoid stress , diazepam.

Huntington chorea : no cure.

- Prognosis :


GULLIAN BARRE SYNDROME

Definition :

- acute inflammatory demylination disease of peripheral nerves lead to

progressive weakness . usually start 10-14 days after a viral prodromal illness

or immunization.

- Other infections implicated are campylobacter jejuni.

- Characterstics signs :

Acute Ascending , symmetrical flaccid paralysis.

Distal sensory loss or parathesia less marked than motor signs.

Neuropathic pain is common

TPR : Reduce tone , power and absent reflexes

Flexor plantar response.

Cranial nerves : GBS patient are prone to ptosis and 7th nerve palsy "

miller-fischer syndrome".

- Diagnosis:

High CSF protein

Nerve condution study show slow conduction velocity.

Daily spirometry for montoired.(FVC is important indicator).

- Management : MDT involve :

Pediatrician who prescribe :

IV immunoglobulin

Doing Plasma pharesis.

Ventilatory support if respiratory failure develop.

Physiotherapy

Rehabilitation.

- Complication :

Respiratory failure

Flucuting BP and arrthymia due to autonomic involvement.

- Prognosis :

Main indicator is time to initial improvement after maximal weakness

Worst prognosis those who not recover more than 2 weeks after start

of illness.

- DD :

Poliomyelitis ( asymmetrical ascending paralysis ).

Dermatomyocytis .


Hydrocephalus

Examine this child head :


- Position of child , obvious large head , obvious deformity

- Growth : plot weight , height and head circumference in appropriate

growth chart for age and sex.

Can be FTT

Obese in case of dilated 3rd ventricle compress pituitary gland.

- Abnormal features:

achondroplasia ,

stigmata of neurocut. Syndrome

prominent head for dandywalker malformation

flexion deformity of thumb in bicker adam syndrome

obvious deformity in lower limbs (TEV ).

- Equipments : walking aids.

9. Hand : for vital sign for evidence of increase ICP.

PULSE : for bradycardia

BP : for HTN

RR: apnea / irregular breathing.

10. Head examination looking for

- 5 S:

SIZE : big head. We must measure head circumference 3 times and

take largest one

SHAPE : broad forehead., prominent occipt "in dandy walker

malformation".

SCAR : in head and in abd. For VP SHUNT.

SUTURE : wide suture + tense AF.

SHUNT : behind the ear.

- Other signs for hydrocephalus :

Percussion : Macwen sign (crack pot sound ): percuss on ant. Fore

head produced cracked sound on taping it (indicate suture

sepration).

Auscultate for Cerebral bruit (Vein of galen


- Sun setting sign : paralysis of upward gaze (pupils will be downward).

- Papilledema

- Chorioretinitis : ass e TORCH infection.

- 6th nerve palsy : blured vision , double vision , convergent squent

12. Gait examination : either :

Inability to walk – on wheelchair or bed ridden.


Or Spastic gait.

13. lower limb examination: either :

- Upper motor neuron lesion( b/c pyramidal fibers pass periventricular

which can stretch by hydrocephalus lead to spacity ) : Hypertonia , hyper

reflexia , +ve babinski .

- Lower motor neuron lesion ( in arnlod- chiari malformation= spina bifida +

hydrocephalus) : hyporeflexia , hypotonia ,reduce power.

14. Back examination : either

- Spina bifida or hair tuft .

- Surgical scar (repaired meningomyelocele )

- Scoliosis (meningomyelocele).


- Abdominal examination :

Scar of VP shunt.

Abdominal mass due to constipation.

Distended bladder – urine retention / wearing nappy – urine

incontence.

- Hearing assessment : observe for startle to sound ( may be hearing

impairement).

Discussion

What is hydrocephalus ?

Hydrocephalus is an excessive accumulation of cerebrospinal fluid (CSF) within the

head caused by a disturbance of formation, flow or absorption.

Dd of hydrocephalus :

1. Communicating :

- Post haemorrhagic : Subarachnoid or periventricular .

- Post infection : Meningitis or encephalitis.

- Leukaemic infiltration.

- 1ry ciliary dyskinesia.

2. Non-communicating :

- X-linked bicker adam syndrome.

- Haemrrhge

- Meningitis

- Mumps encephalitis.

- Vein of galen

- Space occupying lesion : Brain tumor , abscess , haematoma .


- Iatrogenic

- Dandy – walker malformation

- Klipple – feil syndrome.

- Oesteopetrosis

- Achondroplasia.

- Crinocyntosis

- Hypervitaminosis A.

3. Congenital :

- Aqueduct stenosis in 10% of cases.

- Dandy walker malformation

- Arnold- chiari malformation.

- Congenital toxoplasmosis (TORCH).

- Aneurysm vein of galen.

- Achondroplasia can cause perinatal hydrocephalus.

- Huler syndrome.

Investigations :

- Antenataly : Aminocentasis (15-18 weeks) for alpha feto protein

- Chromosomal association : trisomy 13 , 18

- TORCH screening : toxoplasmosis.

- Cranial U/S. : if fontanele still open

Indication of cranial U/S :

Birth weight less than 1500 g.

Sick premature infant

Rapid increase in head circumference.

Signs of increase ICP.

- CT / MRI brain : for CNS anomalies , calcification and site of flow

disturbance.

Management :

1. VP shunt :

- Indications :

For obstructive hydrocephalus .

Some cases of communicating ( over production or poor

absorption of CSF).

- Complication of VP shunt :

Infections. e.g : ventriculitis , peritonitis.( ventriculitis treated by

Fracture or migration of the tube

Occulsion (under drainage ) :


Distal occlusion by chroid plexuses ,fibrin , clot

Distal occlusion from peritoneal adhesion.

Low pressure "slit ventricle " syndrome (over drainage ) can lead to

microcephaly.

Scalp ulceration

Organ perforation.

Brain : damage , swelling or bleeding.

Rare : intestinal obstruction , peritoneal fibrosis.

2. Serial lumber puncture + acetozolamide :

- For post haemorrhgic communicating hydrocephalus which arrested

within 4 weeks

Prognosis of patient with hydrocephalus

- Epilepsy in 50%

- Hemiplegia due to cause like meningitis ,complication of insertion of

shunt "subdural haemorrhage ".

- Impairement of vision due to optic atrophy

- Normal intelgent.

Why usually VP-shunt in the right side ?

- To avoid dominant hemisphere which in most of the case in the left side.

- To be far from heart side .

What is slit ventricle syndrome ?

- Following overdraiage either from acute or chronic CSF decompression .

it characterize by :

1. Intermittent or chronic headache 2ry to ventricular catheter

obstruction.

2. Slit like Y shaped ventricle as seen in CT scan

3. The valve mechanism is slow to refill.

- Manage ment : use high pressure valve ,steroids , head down position

What is acess CSF device?

- It's device inserted with VP shunt.

What is advantages of access device?

- Measurement of intraventriculer pressure.


- Anylasis of CSF.

What is problem associated ?

- Infection.


Ptosis

Examine child with ptosis:

4. General observation:

- Dysmorphic features

- Growth parameters


- Visual acquity :

- Visual field :

- Eye movement : diplopia in case 3rd nerve palsy.

- Pupil response : affected in 3rd nerve palsy.

- Accommodations


- Doing other CNS examination.

- Chest for scar :

scar of removal thymoma in mythania gravis

post cardiac surgery in horner syndrome.

Differential diagnosis of ptosis:

1/syndromic:

o Noonan

o Rubinstein – taybi

o Smith – lemeli – optiz

o Marcus gunn

2/neurological :

o 3rd nerve palsy(unilateral)

o Horner syndrome(unilateral)

o Myasthenia gravis(bilateral )

o Dystrophy myotonica(bilateral)

o Craniosynostosis

o Neuroblastoma

o Migraine

3/ others:

o Cong idiopathic(bilateral)

o Ocular tumours


Horner syndrome

Lesion of the sympathetic nervous system.

Features are :

7. Partial ptosis

8. Pupil constriction (meiosis)

9. Enophthalmos

10. Anhidrosis

11. Hetero chromia iridis…….cong horner syndrome

12. Pupil response not affected (Normal direct and consensual reflex.)

Causes of horner syndrome:

13. Congenital – heterochromia iridae.

14. Neuroblastoma with lung apex /cervical sympathetic chain.

15. Postcardiac surgery.

16. Klumpke's paralysis.

17. Brainstem tumor.

Compression between 3rd nerve palsy and horner syndrome:

Features 3rd

nerve palsy Horner syndrome

Ptosis Complete Partial

Pupil Dilated pupil Constrict pupil(meiosis)

Pupil reaction to light and accomdation

Failure Normal

Diplopia Diplopia - eye down and out No diplopia

Causes .Midbrain tumor .Suprasellar tumor. .Cavernous sinus thrombosis.

Myasthenia gravis

18. Autoimmune type is ass with high antibody to ACH receptor.

Diagnosis : confirmed by improvement by edrophonium

Treatment :

19. Neostagmine or pyridostigamine (anticholinestrase)

20. Immunsuppressive(to maintain remmesion) : steroid e azathioprine.

21. Plasma exchange in case of respiratory paralysis.

22. Thymectomy to remove thymoma or response to medical therapy is poor.


Heridtry motor and sensory neuropathy 1

Charcot maritos (Peroneal nerve atrophy)

- Characterstic :on examination

Inspection : foot drop and distal wasting (inverted champion bottle ) ,

Pes cavus .

Gait : High stepagge gait , and ataxic.

Ask him sitting from standing position ….he will found difficulty in sit

down.( confirm distal neuropathy).

Back : kyphoscolosis.

Reflex : Absent knee and ankle jerk.

Planter : Down going planter.

To complete examination by : Sensory : distal sensory loss.

- DD:

Friedreich's ataxia (ataxia , +ve Romberg , upgoing planter , absent

tendon reflexs)

Discussion

- Definition :

disorder of peripheral nerve fibre due to demylination and

remylination resulting in hypertrophy of nerves , which show

characterstic "onion bulb formation" on biobsy.

peroneal and tibial nerve damaged and sensory nerve conveying

proprioception and vibration also become involved.

begin in late childhood.

- types :

TYPE 1(demylinating) : AD

TYPE 2(axonal) : AD/AR

TYPE 3(hypertrophic) : AD

X-LINKED form

Or

Unilateral : trauma to the nerve.

Bilateral ( common).

- Genetics :

Most common form is HMSN type 1A : AD .

AD form of type 1 is due to defective gene located on chromosome 1.

- Diagnosis :

Nerve biobsy showing "onion bulb formation".

Nerve conduction study …..low velocity of nerve.

Molecular genetic study.

- Treatment :


Stabilization of the ankle joint with ankle foot orthosis.

For burning sensation of foot prescribe phentoin or tegrtol.

Genetic counseling.

Physiotherapy.

References :

- Short cases.

- Mark beatie.


What is macrocephaly ?

- is head circumference more than 2 SD in chart appropriate for his age

and sex. Or more than 98 centile .

Classification of macrocephaley :

1. Familiar :

2. Pathological :

- Increase in brain tissue :( megalencephaly )

Achondroplasia

Soto's syndrome

Storage disease e.g mucopolysaccharhdosis.

- Increase in bone :

Thalassamia

Rickets

Osteogensis imperfect

Oesteopetrosis

- Increase in fluids :

Communicating hydrocephalus :

Previous intracranial bleed.

Meningitis

Spinabifida"Arnold – chiari malformation"

Non-communicating hydrocephalus :

Aqueduct stenosis

Dandy-walker syndrome

Periventricular haemorrhge.

Chronic cerebral oedema :

Benign intracranial htn

Vitamin A intoxication.

Chronic subdural effusion :

Birth trauma

Child abuse

Menkes syndrome.

Malformation associated with increase fluid :

Hydranencephaly

Porencephaly-holoprosencephaly


Brain tumors

Common brain tumors in infants :

- Malignant astrocytoma

- Ependymoma

- Meduloblastoma.

Investigations of brain tumors:

- Brain U/S.

- MRI.

Management of brain tumors :

- Surgical excision

- Chemotherapy upto 3yrs of age. To avoid radiotherapy.

Reccurrence risk :

- 1% except in retinoblastoma and li-fraumeni "family cancer syndrome".


Squint

1/ General observation:

Thriving/dysmorphsim

Eyes (coloboma ,cataract ,ptosis ,nystagmus ,telengectesia,….)

2/ Visual acuity :

age dependent if more than 4years ask him to read

Each eye seperatly.

Near – 1meter ( read) .

Far- 6 meter (snellen test).

If he fail to read ask him to count how many fingers.?

If fail ask him if he can see waving hand?

If fail ask him if he see torch light?

3/ Corneal reflections :

to see light reflection at both eyes at the same time ,

30 cm distant –different directions

Symmetrical(spot of light at same level) ……normal eye

Asymmetrical(spot of light not at same level) ……..squint

4/ Eye movements :

Both eyes at the same time.

Ask pt to fix head.

for 3rd ,4th and 6th cranial nerves

H –shape pattern

5/ Cover test/uncover test:

For manifest squint – non -paralytic (one eye appear squinted)

Ask him to fix object 1 m distant.

When cover normal eye the squint eye will fix the object ( i.e will not

appear squinted)

6/ Alternate cover test:

For latent squint (both eyes appear normal)

When cover abnormal eye it will squint under cover , when remove

cover it will return to it is normal position (you notice the eye during

moving to it is normal position from squinted position)

Types of squint:

23. Paralytic (non- concomitant) : squint in only one direction (deviation varies

with direction of gaze) , caused by :

Extraocular muscle palsy :3rd nerve palsy "divergent " , 4th , 6th nerve

palsy " convergent squint"


Extraocular muscle weakness : myopathy , duan's syndrome , brown's

syndrome.

24. Non-paralytic (concomitant): common , squint unchange in all directions.

Convergent (85%) , divergent . usually horizontal. Caused by :

Refractive error : amblyopia , hypermeteropia , anisometeropia

Eye disease : corneal scar , cataract , optic atrophy , retinal disease.

Congenital.

25. Pseudosquint : common in children , tends to disappear with facial

development , confirm by negative cover test., caused by :

Marked epicanthic folds

Small or large interpupillary distance

Broad nasal bridge

Asymmetry of the face.

Features of 3rd cranial nerve lesion:

o Complete ptosis

o Diplopia

o Downward and lateral gaze

o Pupil dilation

o Failure of pupil to react to light or to accommodate.

Features of 4th cranial lesion

o Diplopia

o Upward and medial gaze.

Feature of 6th cranial nerve lesion:

o Diplopia

o Convergent squint (medial gaze).


What is microcephaly ?

What are causes of microcephaly ?

- Normal variation.

- Familial

- Genetic : AR , ass e learning disability.

- Perinataly :

Congintal infection

Birth asyphyxia

Fetal alchol syndrome

Infant with amother with phenylketonuria

- Syndromes :

With learning disability : cornelia de lange , rubinstein taybi , smith lemi

optiz

With premature fusion of suture ( craniosynostosis) : apert's , crouzon's ,

carpenter's


Myotonic dystrophy

Failure of muscle to relax after contraction , affect face , jaw

, neck and distal muscle. Can present as congenital myotonic

dystrophy

AD , genetic anticipation , CH19

Clue is the mother who expressionless face ,

Anaethsia is dangerous.

- Congenital myotonic dystrophy :

reduce fetal movement , facial diplegia with triangular

facies.

TEV and hip dislocations , and respiratory problems

EMG is investigations.


Occulocutaneous albinism

What are constant positive finding in oculocutaneous albinism?

1. Depigmentation: of skin , hair , blue eyes .

2. Vision : pendular nystagmus , photophobia , wear glasses , Poor visual acquity

What is albinism ?

3. Is group of inherited disorders of melanin pigment system. Due to (tyrosinase

definiceny ).

What are types of albunisim ?

4. Occulocutaneous (not ass with metabolic defect except ….)

5. Ocular

6. Partial

What are occulcutaneous types associated with metabolic defects?

7. Chediak-higashi syndrome

8. Hermansky –pudlak type

What is the inheritance ?

9. AR – all types of oculocutaneous and ocular types.

10. X-linked R(ocular albinism with late onset sensoneural deafness).

What are the long term consequences/complications?

11. Blindness.(wear sunglasses)

12. Skin cancer(using hat/ umberella).

13. Sensorineural deafness.(in ocular type.)

14. Haemoorhage ( in hermansky pudlak type)

What is the management ?

15. Opthalmolgical : correct of refractrive errors.

16. Protection from sunburn and cancer by using hat and umberralla.

17. Genetic counselling

What is the prognosis ?

18. Normal life span except in hermansky pudlak type.

19. Death may result from haemorrhage in hermansky pudlak type.


Erb's palsy

Task : Examine this child head which having difficult labour.


- Position of child , one of upper limb moving less.

- Growth : large baby.

- Abnormal features.

- Equipments .

17. Upper limb for tone /power/reflex –grasp reflex.:

- Inspections for :

Position of hand affected:

Scars of repair : in the neck , near the nipple.

- Tone : reduce tone.

- Power : reduce power.

- Reflex :

Moro reflex is asymmetrical.

grasp reflex and hand movement normal.

18. Back examination : either

-


-

Discussion

What is erb's palsy ?

- It's damage to c5,c6 lead to reduce power and tone , forearm

pronated , wrist flexed " waiter tip " position .

- Biceps reflex absent

- Moro reflex asymmetrical

- Finger movement and grasp reflex are normal.


What you want to ask parent?

- If he is breech presentation?

- Or shoulder dystocia ?

What is underlying pathology ?

- results from damage to upper brachial plexuses root (C5 , C6)

lead to paraylasis of the deltoid , brachioradialis and long wrist

extensor muscle.

What advices u will give to the parents ?

- Reassure it is not permenant condition

- Recovery within 3 weeks ( if severe up to 2yrs ).

- Educate them physiotherapy.

Investigations :

Management :

- Physiotherapy

- f/up.


Myasthenia gravis

- Def. :

Most common disease of neuromuscular junction

Caused by antibodies directed against postsynaptic

acytlcholine recptors.

- Clinical features :

- Diagnosis :

Edrophonium test .

EMG confirm neuromuscular block.

Antiacytlcholine antibody

- Treatment :

Anticholinestrase drugs : neostagmine

Immunosuppressant

Plasmapharesis

Thymectomy.

- Complication :

- Dd :


Plagiocephaly

What is plagiocephaly ?

- It's unilateral synostosis usually affecting coronal suture , mild , common in early

infancy and improves with time and is of no significance.

severe types of craniosynostosis :

- Severe type with fusion of multiple or all sutures can occur resulting in microcephaly

ass with raised intracranial pressure , mental retardation.

- Types :

congenital like apert's , crouzon's syndrome

acquired : idiopathic hypercalcaemia.


Approach to ataxia telengectasia

1. G. Observation

- Telengectasia in eye , ear and cheecks.

- Growth .

- Dysmorphism

- Equipments

- 7 observational

In ataxia telengectasia : no pes cavus.

2. gait :

- Ask him to walk straight : unsteady and/or broad based

Then ask him to :


- Stand still with two feet together and open eyes : + ve (fall towards

the side of the cerebellar lesion if unilateral)

- Romberg's sign( feet together with closed eyes ) : .


telengetasia






i/ Dysartheria ( ask the child question) ,looking for staccato speech


- How old are you?



ii/ Check eyes for Nystagmus (moving eyes laterally → Toward the lesion ) and

observe for telangiectasia : by doing H-test.

iii/ Test Coordination (Finger nose test "upper limb " / heel shin test " lower limb") for

- Dysmetria: over shooting

- Intention Tremor.

- Incoordination in both : freidrich and ataxia telengectasia.

iv/ Check Dysdiadokinesis (rapid alternating movements of hands)


5. TPR + babniski + clonus :

- In ataxia telengectasis : N/ reduce tone, power , reflex ,

normal/flexor babniski., normal sensation.


- Examine abdomen for Hepatosplenomegaly "ataxia telengectasia"

- Ask mother about development and school performance:

developmental delay in …………………………….."ataxia telengectasia "

- Eye for palioedema …… space occupying lesions.

Discussion



- Ataxic CP.

- Wilson

- Joubert


- Friedrich ataxia is upper motor + hyporeflexia (and not hyperreflexia.)

ATAXIA TELENGECTASIA :

AR – ch 11.

Problems are :

- Recurrent infections due to Thymic hypoplasia " t-cell abnormality"

and low immunoglobulin levels

- Malignancy – non hodking lymphoma.

Diagnosis of ataxia telengectesia :

- Clinical features (suspected): ataxia + telegectesia + infection.

- Laboratory ( confirmed) :

increase alfa fetoprotein

low IGA , IGE , IG2-4

def. or absence ATM protein.

- MRI BRAIN : cerebellum atrophy later in life.

- Chromosome fragility test.

DD of ataxia telegectascia :

- Ataxic CP.

- FRIEDREICH ATAXIA.

- COGAN OCCULOMOTOR ATAXIA.

Treatment of ataxia telengectasia : symptomatic and supportive by MDT.


- Occuptional Therapist

- Speech therapist

- Phisotherapist

- Education psychologist.(usually normal IQ, but 30% have mental

retadation)

- Dietein

- Social worker .

- Ophalmologist

- Parent education : to avoid radiation.

- Treatment of infection and Vaccinations tetanus , HIB ,

- Treatment of malignancy.

- Genetic counseling.

Friedreich ataxia Ataxia telengextsia Ataxic CP









Sensory -Loss of joint position /vibration

No sensory loss No sensory loss








-⬆ Risk of malignancy (non Hodgkin lymph/ leukaemia /brain tumours) -Recurrent Infection -developmental delay

Investigations Normal -⬇IgA/IgG2-4/IgE -⬆α Feto P. -eosinophilia.

Management -Supportive - supportive + - Control Infection.


- F/up of malignancy - avoid radiology


-wheel-chair at teenage . -Death: Pulmonary D.


Approach to friedreich's ataxia

1. G. Observation

- Growth .

- Dysmorphism

- Equipments

- 7 observational

muscle wasting distally

pes cavus

2. gait :

- Ask him to walk straight : unsteady and/or broad based

Then ask him to :


- Stand still with two feet together and open eyes .

- Romberg's sign( feet together with closed eyes ) : +ve.





- Kyphoscolosis


i/ Dysartheria ( ask the child question) ,looking for staccato speech


- How old are you?



ii/ Check eyes for Nystagmus (moving eyes laterally → Toward the lesion ) and

observe for telangiectasia : by doing H-test.

iii/ Test Coordination (Finger nose test "upper limb " / heel shin test " lower limb") for

- Dysmetria: over shooting +ve.

- Intention Tremor.+ve.

- Incoordination in both .

iv/ Check Dysdiadokinesis (rapid alternating movements of hands)

5. TPR + babniski + clonus :


- In freidrich ataxia : hypotonia , absent reflexes.,upgoing babniski ,

loss of position and vibration sense.


- CVS : systolic murmur "HOCM" .

- EYE for optic atrophy.

- Hearing assessment : impaire hearing .

- Check blood glucose : high RBS

Discussion



- Ataxic CP.

- Wilson

- Joubert


What is Friedreich ataxia?

It's AR – CH no. 9

Clues : older child with ataxia , Romberg positive , upgoing planters , absent

ankle reflex and pes cavus = freidreich ataxia.

Friedrich ataxia is upper motor + hyporeflexia (and not hyperreflexia.)

What is Lesions in friedrich ataxia ? pyramidal tract dysfunction (cerebellar

degeneration and peripheral neuropathy.)

- Demylination and degeneration of posterior column

- Corticospinal pathways and spinocerebral tracts .

Investigations of friedreich ataxia :

- MRI : show cord atrophy , cerebral MRI normal till advance

disease.

- Somato sensory evoked potential reduce. While conduction velocity

normal.

- Gene study (confirm the diagnosis): farataxin gene

Management of friedreich ataxia: MDT

- Speech therapist

- Physiotherapist


- Cardiologist : ACEI + DIGOXIN

- Endocrinologist

- Orthopedic surgeon


- Drugs trial : interferon gamma , nicotinamide.

Prognosis of frierdeich ataxia :

- Wheel chair by 20th .

- Death at 40-50th. Due to cardiorespiratory complications.(HOCM ,

arrthymia).

- Scolosis in 75%

Friedreich ataxia Ataxia telengextsia Ataxic CP









Sensory -Loss of joint position /vibration

No sensory loss No sensory loss








-⬆ Risk of malignancy (non Hodgkin lymph/ leukaemia /brain tumours) -Recurrent Infection -developmental delay

Investigations Normal -⬇IgA/IgG2-4/IgE -⬆α Feto P. -eosinophilia.

Management -Supportive - supportive + - Control Infection. - F/up of malignancy - avoid radiology


-wheel-chair at teenage . -Death: Pulmonary D.


CYNOTIC CONGENITAL HEART DISEASES

Dd of cyanotic congenital heart disease :

- TOF

- TGA

- TRICUSPID ATRESIA

- TOTAL PULMONARY VENOUS DRAINAGR

- TRUNCUS ARTERIOUSUS.

Common cases in exam :

1. With scar ( cyanosis + clubbing)

a. Post operative TOF with residual PS :

- small child

- Sterntomy scar

- Systolic murmur of pulmonary stenosis.

b. Complex heart disease :

- 2 scars at least

- Post fontan

2. Without scar : ( cyanosis + clubbing)

c. Untreated TOF : (Small child).

d. Essimenger (old child ).

management of cyanotic congenital heart disease :MDT

- Pediatrician : role is

Montoring HCT (aim to keep less than 60%) to avoid CVA.

iron therapy to avoid anaemia.

Montoring of coagulation because of coagulation defect ass with high

haematocrit.

Treatment of hypercynotic spell.

- Dietien : increase caloric intake.

- Dentist : antibiotic prophlaxis to prevent infective endocarditis.

- refer to cardic surgeon : either :

If severe pulmonary stenosis ……..BT shunt , then corrective surgery (4-

12 months of age). or

One operation total corrective surgery ( widening of rt. Outflow

obstruction + close of VSD + correct position of aorta).

complications of congenital heart diseases :

- FTT.

- Exertional dyspnoea.


- Polycythaemia /anaemia.

- Cerebral thrombosis.

- brain abscess

- Infective endocarditis

- Arrhythamia

- Paroxysmal hypercyanotic spells (Restless , cyanotic , gasping respiration follow

by syncope.) , Treatment of spells :

100% O2.

squatting position "knee-elbow position" to increase systemic resistance

so increase pulmonary blood flow.

morphine for sedation and pain relief.

beta blockers – Propanolol peripheral vasoconstrictor and reduce

pulmonary muscular spasm.

If more severe : potent vasoconstrictor "nor adrenaline." + artificial

ventilation.

sodium bicarbonate if acidotic ,

management of cyanotic CHD :

1. Morphine during Tet spells to decrease associated infundibular spasm.

2. Prophylactic: Propranolol/Inderall

3. Prostaglandin E (to keep the ductus arteriosus patent)

4. Prophylactic antibiotic to prevent endocarditis

5. Surgery: Glenn Shunt, Hemi-Fontan Procedure, Fontan Procedure. The purpose of

these operations is to redirect the blood flow of the deoxygenated blood to the

lungs by attaching the Superior Vena Cava directly to the Pulmonary Artery

causing the blood that flows into the lungs to be oygenated before entering the

chambers on the right side of the heart. Mathematical models are used to address

the issue of pressure level alterations of circulation after the procedures. The

pulmonary pressure resistance in the cavopulmonary connection is increased, and

these models permit clear analyses of the pressure increase allowing doctors to

avoid possible venous circulation congestion.


Heart Examination

A. GENERAL APPROACH:

1. enter the room and introduce ur self to examiner and hello him and give

him the exam paper. then listen to the task.

2. wash ur hand.

3. introduce ur self both to the parents and child and take permission to

examine the child.

4. establish rapport with the child .

B. G.Look:

- Equipments : IV canula., monitor.

- Growth .: small for his age.

- Status : distress or not , sweating on forehead ,well/ill.

- Color : Cyanosis , Palor.

- Dysmorphic Features :

Down syndrome…..AVSD / VSD/ TOF.

Allagile syndrome ……PS

William's syndrome …..AS.(supravalvular ).

Turner syndrome ……COA /bicuspid aortic valve.

Noonan's syndrome …….PS/cardiomyopathy.

Marfan syndrome………aortic incompetence.

Ehlar's syndrome ………mitral valve prolapsed.

C. Hands:- 5things

- Clubbing ( loss of diamond window when approximating 2 index fingers)

- cyanosis(peripheral).

- Stigmata of endocarditis : osler node , splinter haemorrhge , janeway

lesions

- Pulse : radial (if older than 5 years ), brachial/carotid (infant) compare

both sides for 7 things

Rate (normal p168 MB).

Rhythm : regular/irregular.

Character (brachial /carotid):

Collapsing ….AR/PDA/AV fistula

Pulsus paradoxus ……asthma / pericaditis

Asymmetrical :post coarctation repair.

Synchronous.

Volume .

P. Pulses.

R. F. Delay.


- Others : any striking features like absent thumb , absent radii , single

palmar crease , long fingers , laxity of fingers , …..

- B.P. : normal values p 170 MB ( Twice / Normal > 90 + Age⤫ 2)

D. head and neck :

- Eyes :Pallor /jaundice ( Not important.), conjunctival injection

- Mouth : (central Cyanosis / dental caries )

- Neck : J.V.P.(if more than 7 years) mention at the end u want to do it.

G. Chest :

- Inspection:- 4things

Shape : symmetry , deformity " pectus cariutum/ pectus exacavtum".

Visible Pulsations (hyper dynamic apex beat).

Signs of RD : (Harrison sulcus) , sub /intercostals recession

Scars : 6 types of scars

right Lateral thoracotomy :

o modified BT shunt.(without absent of radial pulse in

same site , while classical BT with absent Radial pulse

in the same site).

o Lung causes (lobectomy).

o Trachea-oesophageal fistula repair.

Left Lateral thoracotomy :

o modified BT shunt .

o co arctation repair .

o PDA ligation .

o Pulmonary Artery banding.

o Lung causes (lobectomy).

Median sternotomy (any bypass surgery inside heart )

Drain scar (multiple scars).

Pace makers scar – box shape (often in left. pectrol region

"under clavicle " or in epigatric area)

Port cath. Scar (rounded coin shape)

- Palpation:- 4 things:

Apex :

bilateral palpation to R/O dextrocardia.

site of apex beat – most lateral and inferior impulse (normal

lt. 4th or 5th ICS , midclavicular line )

character :

force full (thursting/hyperactive) in LVH.( due to

volume overload).


Sustain in AS.

Lt. Para sternal Heave indicate right side high pressure ( rt.

Ventricular hypertrophy ) , in infant palpate epigastric area.

Palable 2ed heart sound indicate pulm. HTN "increase pulmonary

flow".

Thrill : feeling of vibration.

important for grading of murmur – < 3/6

at 4 main areas of heart. + (axilla and neck).

- Auscultation:- 4 things ( MB p172 - 176 )

H. Sounds (S1/S2) – mb 172

o 1st heart sound :

loud in high cardiac output , ASD , prosthetic valve.

o 2nd heart sound : comment on splitting (normally increase

separation of S2 " A occur before P" in inspiration and

decrease in expiration ).

loud in pulmonary hypertension, and in increase

pulmonary blood flow (PDA , ASD, VSD)

Split S2 : fixed split…no varitation e respiration (ASD) ,

wide split( ASD , PS , RBBB),reversed split (AS , LBBB).

Single S2 : TGA , PS.

o 3rd and 4th heart sound.

o Gallop rhythm

o Ejection click.: AS/PS.

o click of prostatic valve "sound of watch"

Murmur:

o time (systolic / diastolic).

o site of maximum intensity.

o radiation

o grading

Added Sound .

Bi-basal Creps

H. inorder To continue examinations , examine :

- Back : for ( scar /bi-basal creps / scaral oedema).

- Abd : Liver & Spleen / Scars / Pacemaker / Ascites

- Lower Limbs: edema

- Groin: (Scar / Catheters / Central line / Femoral P.)

I. I would like to complete Examination by :

- Plot him in appropriate growth chart.


- B.P. in 4 limbs/ O2 saturation / J.V.P. /radiofemoral delay.

- Fundocopy "Roth spot" /dipping urine for evidence of Endocarditis.

Presentation :

In Presentation comment on :

- Growth parameter –pubertal changes if present , dysmorphic features ,

clubbing , cyanosis , RD

- PR .

- Scars , chest deformity , visible pulsation

- apex , lt. parasternal haeve , palpale 2nd heart sound , thrill.

- Heart sound , split of 2nd heart sound , murmurs .

- Liver and oedema.

- Then mention diagnosis , in Heart failure or not , there are signs of

infective endocarditis or not

- I want to Complete examination by growth parameters , check bp in 4

limbs , spo2 and radiofemoral delay .

Example of presentation : ahmed is 5yrs old boy , looks well , small for his age but I

want to plot him in appropriate growth chart for his age and sex , no appearant

dysmorphic features , not cyanosed , distress or clubbed.

What are Investigations in cardiac case ?

- E.C.G. / C.X.R. / Echo .

- Cardiac catheterization.

- Urine " RBC for Endocarditis".

n.b : Don't Use Abbreviation (P.D.A. /V.S.D. ……..).

what is Management of common CHD:

Operation Time of operation Cardiac lesion

Cath.. / Bypass 4—5 Yr . A.S.D

Palliative: P.A. Banding Curative: Bypass

Wait Small V.S.D.

2—5 yr Moderate

< 6 month. Large

Bypass 4—6 Month A.V.S.D.

Bypass Pressure Gradient 40 mmhg Pul- Stenosis

Bypass 4—12 Month Fallot Tetrology

Valve Replacement For Exercise Induced C/F Aortic Regurg

Cath.. / Bypass Pressure Grad >60mmhg Aortic Stenosis

1st

Week Duct Dependant

1st

Month T.A.P.V.

Duct Dependant-1week Coarctation of aorta

Non-Duct Dependant-childhood


COMMON EXAMS CASES :

1. Cyanotic heart disease with clubbing:

- With scar :

Post TOF ( young child)

Residual murmur of PS / TS

Complex heart lesion :

- Without scar :

Untreated TOF.

ESSMENGER SYNDROME

2. Acynotic heart disease :

- With scar :

Rheumatic heart disease ( could be double lesion)

Prothetitic valve

- Without scar :

What are Complications of cardiac Operations?

- Hge / Infection / Tamponade .

- Failure of operation.

- Heart block … E.Conduction Defect

- Arrthyemia / Diaphragmatic Palsy / Vocal Cord Palsy/protein losing

enteropathy / developmental problems.

How to diffentate between coarctation repair and classical BT shunt ?

If found Lt- Thoracotomy Scar + Absent R.Pulse → Check for Murmur in Scar

→

+Ve B.T.Shunt

- Ve Sub- Clavian Flab (coarctation repair).

- If you fined 2 Thoracotomy Scars → Failure of one B.T.Shunt.

- Down Syndrome Pt- more prone to Eisenmenger's S.

How to interpret the murmur ?

As general rule :draw imaginary line b/w two nipple:(mb174 –175 2tables)

1. Below nipple : usually pansystolic murmur

VSD/AVSD :Heard all over the pericardium with maxium intensity on

LLSB.


MR : radiate to axilla e maximum intensity in apex .

Fallot tetralogy : pansystolic murmur (LLSB) + ejection systolic murmur

( left 2nd intercostals space radiate to the back)

2. Above nipple : usually ejection systolic

PS / PS of ( fallot tetrology ) : lt 2nd ICS radiate to the back

ASD: lt 2nd ICS with no radiation +/- spilt S2.

PDA : may be machinery lt 2nd ICS.

Coarctation of the aorta radiate to the back b/w scapula.

AS: rt 2nd ICS radiate to neck

What are Murmur Below Lt. Clavicle?

1. Venous Hum :Continus (↓When press Neck Veins).

2. P.D.A. : Continuous R. to Back + Collapsing Pulse.

3. Coarctation (Re-Coarc): Rt. to Lt. Axilla + Radio-F.Delay. + Absent/weak Pulse.

4. B.T. Shunt : Continuous + S. Scar + Absent/weak Pulse.

5. Fallot' Tetralogy :(Pul) Ejection Systolic M. + Single 2ed H.S. + B.T. shunt

What are Grades of murmur ? 6 grades

1. Barely audible

2. Medium intensity.

3. Loud but no thrill.

4. Loud with thrill.

5. Very loud but still need stethoscope to be in chest.

6. So loud heard with stethoscope off the chest.

What are Difference b/w perphiral and central cyanosis?

- Central cyanosis (SPO2 85%) due to defect in arterial oxygenation.

- Peripheral cyanosis due to less vascular perfusion.

How to read Chest X.R.( Interpretation ) MB 218-219:

1. P. Data – Date .

2. Marker Lt--- Rt--- AP ---PA .

3. Equipments (ETT---NGT---ECG…)

4. Lung Fields (Oligemic—Plethoric).

5. Mediastinum (Heart:- Boot—Egg on end---C.megally---DextroC)

6. Diaphragm --- Bowel—Liver (site) .

7. Bones ( Ribs---Clavicles---Scapulas) .


.V.S.D.

Examination finding in AVSD :

1. Down syndrome , Growth Failure.

2. +/- Distress , +/- cyanosed , +/- clubbed.

3. Pulse : tachycardiac .

4. examination findings in Pre-Operative Pt. :-

- Inspection:

Active Precordium + prominent sternum.

Intercostals recession.

- Palpation :

Hyperdynamic apex and displaced.

Lt. Parasternal Heave +

palpable thrill at LLSE.

- Auscultation :

Comment on charcter of S2.

Gallop rhythm if in heart failure.

Murmur : Pan-systolic M at LLSE + diastolic "MS" murmur at apex

5. examination findings in Post-Operative Pt.:-

- Mid-sternotomy Scar +

- Pan-systolic M. at Apex radiating to axilla(Residual M.R.)

- Diastolic flow murmur at apex.(due to overflow through mitral valve).

- Gallop rhythm may be present

6. In order to continue examination :

- Abdomen for hepatomegally.

- Lower limb oedema.

- Basal creptation


- Plot him in appropriate growth chart

- Check BP.

What are clinical features of heart failure ?

o hepatomegally ,

o sacral or peripheral oedema ,

o tachycardia,RD,

o cardiomegaly (displaced apex beat and hyperdynamic).

o gallop rhythm .

o basal crepitations .


On presentation comment for : site of apex beat , loud S2 , on failure or not.

What are Investigations?

- CXR : cardiomegally and pulm plethora

- ECG : Cardiomegally / Superior. Aix D./ prolong PR .

- Echo.: to assess degree of pulmonary hypertension.


- Treatment of cardiac failure ( diuretics , ACE I, nutrition).

- Surgery :

For partial defect surgery between 2-5 yrs.

For complete defect : before 4—6 month.

Pulmonary banding if corrective surgery delayed.( more than 6 month of

age).

Preoperative complication:( if not treated)

- Atrial dilation

- Arrhythmias

- Pulmonary hypertension……ESSMENGER

Postoperative complication :

- Damage to AV node/conduction fibres……heart block.

- Ongoing AV dysfunction.

- Problem with increase pulmonary Vascular resistance.


Pulmonary Stenosis

1. Ass with Noonan' S. / William S./ ALLAGILLE

2. A Symptomatic (in mild and moderate lesion).

3. Pre-Operative examination findings :

Palpation :

- Lt. Parasternal Heave .

- thrill over pulmonary area

Auscultation :

- widely split S2 with softer pulmonary component.

- Ejection-systolic M. at ULSE radiate to the back+

- ejection Click after 1st heart sound.

4. Post-Operative examination finding :

- Mid-sternotomy Scar or femoral scar.

- Residual Ejection-systolic M. ± Diastolic M.( 2ry to pulmonary incompetence)

5. other :

- look for signs of right ventricular failure.

- Plot him in appropriate growth chart

- Measure BP.

Investigations :

- ECG : usually normal , but in severe stenosis (rt ventricular hypertrophy + tall

P wave) and right bundle branch block.

- C-X-RAY : usually normal " but may show oligaemic lung field in severe

stenosis ", u may see prominent pulmonary artery (post stenotic dilation) ,

prominent RT atrium and rt ventricle.

- ECHO

What is Treatment in PS? : multidisciplinary

- Pedaitician as team leader.

- Dietien for growth f/up.

- Dentist for oral hygien.

- Cardiologist for surgery :

1. What are surgical intervension?


Open heart surgery( sternotomy scar ) in : fixed subvalvular stenosis

or thickened pulmonary valve.

Ballon angioplasty by catheterization.(femoral scar)

2. What is Indication of intervention ( ballon valvoplasty)?

Pressure gradient across pulmonary valve more than 40 .

Pressure on RT ventricle more than 60.


Aortic Stenosis

1. Inspection :

- +/- Dysmorphic f. : ass with Turner' S. / William S.

- A Symptomatic : not distress , cyanosed or clubbed.

2. Pulse : either :

- weak peripheral pulses , or slow rising.

- collapsing (with AR postoperative)

3. B.P. : normal or slightly raised , narrow pulse pressure.

4. examination finding in Pre-Operative Pt.:

- palpation :

Apex : undisplaced Apex beat., forcefull.

Thrill over aortic area radiating to carotid and supra sternal area.

- Auscultation :

Ejection-systolic M. 4/6 at RT 2nd ICS radiating to neck + ejection

Click.

5. examination finding in Post-Operative Pt. :

- Median sterntomy scar or Catheter Scar .

- Residual Ejection-systolic M. ± Diastolic M. at 3rd lt ICS (A.R.).

- Collapsing Pulse(AR).

Further examination :

- Feel femoral pulses and feel for radiofemoral delay (ass e coarctation)

- Listen at the back to R/O coarctation which radiate to the back.

- Plot him in appropriate growth chart . comment on pubertal stage if

appropriate.

- Checking blood BP and narrow pulse pressure.

Discussion

What are causes of aortic stenosis :

- Congenital : ass with William and turner syndrome.

- Secondary : due to rheumatic fever .


What are the types of aortic stenosis?

- Valvular :

- Supravalvular : ass with William.

- Subvalvular :

- Subaortic stenosis: fibrous diaphragm just below the aortic valve

What are Complications of aortic stenosis?

- Exercise intolerance

- Syncope

- Left ventricular hypertrophy.

What are investigations?

- CXR : prominent left ventricle " normal heart size " , post stenotic dilatation.

- ECG :

Signs of Lt. V. Hypertrophy (tall R waves V5-6 , inverted T waves in 1 ,aVL,V5-

6)

Signs of ischemia (ST depression , T wave inversion )

- Echo.: assess gradient across the stenosis.

What is the treatment options?

- Conservative in most cases avoiding valve replacement in young patient.

- Surgical Intervention :

Indication of interventions :" valve replacement"

Severe stenosis : Pressure Gradient across the valve > 60 mmhg

Re-stenosis after ballon .

Types of interventions:

By Catheter balloon valvuloplasty " risk of regurgitation".

Open Heart valve replacement .

What Advice would you give to the parent?

Must NOT participate in strenuous sports if the pressure gradient across

the valve is more than 50 mmhg.

Need for good dental hygiene.

Antibiotic prophylactic during dental extraction.

Association of aortic stenosis:

Coarctation of aorta.

William / turner syndrome.


perated Fallot' Tetralogy

Inspection :

- Growth Retardation

- ± Clubbing./ cyanosis.

- Pulse : weak or Absent Radial in association with classical BT shunt

- Face : central cyanosis if not corrected., plethoric face and conjectival

injection.

Chest :

- Inspection :

o Lat Thoracotomy scar/s (right first if fail left ) with absent pulse in

case of BT shunt ( Gore- tex conduit b/w subclavian and pulmonary

arteries ).

o Mid-sternotomy Scar in case of definitive repair.

- Palpation :

o Apex beat not displaced.

o 2nd heart sound single and not palable.

o Left parasternal heave

o Thrill systolic palpable at ULSE.(50%).

- Auscultation :

o S2 either single ( only aortic v. heard) or soft pulm. Component.

o Ejection Systolic M. at ULSE 2nd ICS.

o Continuous murmur (BT shunt) (over scar itself or below the rt .

clavicle) in case of lateral thoracotomy.

o Aortic ejection click.

Discussion

Fallot tetralogy is one of the complex congenital heart disease .

What are Components of falot tetralogy ?

- Rt. ventricular out flow obstruction.

- VSD.

- Overriding of aorta.(25% rt aortic arch)

- Rt. Ventricular hypertrophy.


- CBC : Hb / packed cell volume if cyanosed.

- CXR : boat shape "prominent Rt ventricle" , pulmonary oligaemia


- ECG : right axis deviation , RT ventricular hypertrophy , P wave is tall

- ECHO.

What is the treatment ? MDT :





haematocrit.


- Dietien : increase







Complications tetralogy of fallot :

- FTT.


- Cerebral thrombosis/brain abscess


- Arrhythamia




100% O2.






If more sever : potent vasoconstrictor "nor adrenaline." + artificial

ventilation.


What advice you give to mother ?


1st 6 monthes after operation prophylaxsis endocarditis.

good oral hygien.

Nutritional support.


V.S.D.

Examination finding in asymptomatic VSD (small VSD – maladie de roger )

Inspection :

Normal Pt. /well

+/- Dysmorphic features (e.g: down syndrome.).

No tachypnea or tachycardia.

Hands – no clubbing or cyanosis.

Pulse and BP normal

No scar on chest

Palpation :

Apex in its place

No parasternal heave / or palable S2.

Systolic Thrill at (left sternal edge.)

Auscultation :

S1 , S2 normal.

Pan S. Murmur maxium @ Lt sternal edge (heard all over but not Radiate ),

grade more than 3/6.

Examination finding in Haemodynamically Significant V.S.D. (large VSD):

1. growth failure +/- dysmorphic features

2. tachypnea , tachycardia , no cyanosis or clubbing.

3. Inspection : bulging praecordium , harisson sulcus , Active Precordium

(thrusting apex )

4. Palpation : Displaced Apex , Loud S2 due to increase in pulmonary blood flow

5. Auscultation : Soft Pan S. ± Diastolic Murmur.(due to increase blood flow

through mitral valve).

On presentation you must Comment on :

Equipment , g.condition , Dysmorphism , cyanosis , RD, clubbing , PR.

Scar , deformity , visible pulsation Apex peat , lt p.haeve , 2nd heart sound ,

thrill

Heart sounds ,Murmur.

Heart Failure + endocarditis + Haemodynamically Significant.

To complete examination by plotting him in growth chart and checking BP.


Disscution

What is VSD ?

- commonest CHD (30%).

- defect usually in the membraneous part.

- Lt …..Rt shunt ,

- left ventricular overload and increase pulmonary blood flow.

What are Types of VSD ?

- Membraneous

- Muscular less common.

- Perimembraneous VSD -common : in membraneous part and extended in

muscular part.

What are Causes of VSD ?

- Congenital ass with down syndrome.

- Secondry after MI.

How u confirm this VSD ?

- CXR.: normal in small defect , but may show (if the defect is large):

o cardiomegaly , enlarge pulmonary artery , increase vascular marking ,

plethoric lung.

- ECG : normal in small defect , but may show (Lt. or Bi-Ventricular

Hypertrophy) .

- Echo.

What is management options ?

a. if haemodynamically not Significant : Multidisciplinary approach

Pediatrian as team leader.

Dietien for growth f/up.

Dentist for oral hygien.

Cardiologist for ECHO and F/Up (80% close spont.)

b. if haemodynamically significant :

Pediatrician : as team leader

Pedia cardiology :Medical treatment (diuretics and ACEI ) to control

heart failure and prevent pulmonary vascular disease.

Dietien : Increase calorie intake for normal growth.


Dentist .

Cardiologist surgeon for Surgical management

a. Indication of surgery in VSD :

Failure of medical treatment

If pulmonary to systemic flow ratio is greater than

2:1.

Poor quality of life

Swiss cheese defect.

b. Types of surgery in VSD :

Complete repair ( median sterntomy scar ) may be

associate with residual murmur .

Pulmonary artery banding ( lt lateral thoracotomy

scar ) for pt with pulmonary HTN and not suitable

for early surgery because of :.

- FTT.

- Swiss cheese VSDs

c. Time of surgery according to defect size :

1. Large defect : surgery before 3- 6 month of age , to

prevent pulmonary HTN, and ensure adequate weight

gain.

2. Moderate defect : diuretics + ACEI , and if not close

surgery 2- 5 years .

3. Small defect : observe ,close spontaneously.

How you follow the child?

Growth parameter

ECHO.

What advise u give to the parents?

Reassure mother can be close spontaneously (in case of small VSD).can play

sport safely.

Need more calorie intake

Good Dental hygein.

If tooth extraction need prophlaxis against endocaditis.

What are the Difference b/w small and large VSD?

Small VSD Large VSD

Murmur Loud murmur +thrill Soft murmur

Diastolic murmur No Yes


Loud S2 No Yes

Cardiomegally No Yes

Haemodynamicaly Stable Not stable , plethoric

Surgery If not close , surgery @2-5 yr

Surgery below 6month

How would u differentiate b/w VSD and innocent murmur?

Charcter VSD murmur INNOCENT murmur

Murmur .Pansystolic. .Not affected by posion .Radiate.

.Soft , short systolic

.Affected by position

.Not radiate

Symptoms May have symptoms Asymptomatic

Investigations Not normal. normal

Management observation reassurance

How differentiate b/w VSD and MR murmur

VSD MR

Maxium intensity

Radiation


Complex cynotic Congenital H. Disease

Clues in case of complex cyanotic congenital heart disease :

- Cyanosis

- Clubbing

- One or more Surgical scars ( because in complex cyanotic CHD , they are

doing in most of the cases palliative operation , which composed of many

stages like : BT shunt as life saving , then glenn at 2ys , and then fontan at

5yrs ) and still cyanosed and clubbed because they are palliative not curative.

Most common examination finding in complex CHD :

1. Mid Sternotomy scar + Cyanoses ± Clubbing

2. Rt. Thoracotomy Scar + Cyanoses ± Clubbing

3. Mid Sternotomy scar + Rt. Thoracotomy Scar (Repaired)

DISCUSSION :

In order to classify congenital heart disease into complex and simple , we will use

segmental sequential approach .

What is segmental sequential approach ? we are looking for 4 points : WE need 2

point to labell as complex congenital heart disease.

1. Assess Atrial situs : any abnormality like isomersm., relation to the abdomen

viscera

2. Ventricular lobe : connection b/w 2 venricles ,

3. Arterial relation and connection , pulmonary and aortic

4. Position of the heart as whole : is there dextrocardia.

Types of congenital heart disease :

1. Simple CHD : only one lesion .

2. Complex CHD : means anomaly at many levels , not single defect .

Dd of complex cong. Heart disease? Most of the cases are cyanotic , but could be

acynotic.

1. Tetralogy of Fallot. ( 4 lesions) , one of few

2. Complete AVSD. ( 2 lesions)

3. Pul- Atresia (Sever Stenosis) + VSD /ASD ( 2 lesions)

4. Pul- Atresia + Single Ventricle .


5. Tricusbid atresia + other lesion ( 2lesion)

6. TGA + other lesion

7. Double outlet Rt. Ventricle

8. Right Atrial Isomerism. dextrocadia

Examples of Simple Congenital H. Disease:

1. V.S.D.

2. A.S.D.

3. P.D.A.

But any simple CHD can become complex if for example develop pulmonary HTN or

reverse of shunt.

What are investigations?

- C.x.ray

- ECG

- ECHO


- Treatment of cardiac failure :

fluid restriction .

medications include: Diuretics(k-sparing and loop) and ACE I + cardiac

glycosides.

Palliative surgery (most of the case ) : shunt + glenn + fontan ( in single

ventricle defect)

Curative surgery :

Shunt + corrective surgery in TOF.

Heart – lung transplantation.

duct dependent lesions are :

1. Left sided :

- severe aortic stenosis .

- critical coarctation of aorta .

- interrupted aortic arch .

- hypoplastic left heart.

2. Right sided :

- pulmonary stenosis .


- pulmonary atresia .

- tricuspid atresia .

- ebstein anamoly.

What are different types of cardiac surgery :

a. Bypass surgery :

1. Fontan operation : in complex congenital heart disease (single ventricle ), 3

stage :

- Stage 1 : BT shunt

- Stage 2 : Glenn or hemi fontan @6-8 month: connect pulmonary artery with

superior venae cava

- Stage 3 : Fontan : at 3-5 yrs : connect inferior venae cava with pulmonary

artery.

2. Switch operation : TGA.(in 2weeks of age –if no vsd present )

3. NORWOOD : as palliative in hypoplastic left heart syndrome composed of 3

stage :

- Stage 1 : at 3-5 days : pulmonary artery attach to aorta , bt shunt , atrial

septectomy

- Stage 2 (hemi fontan) at 5-6 month

- Stage 3 (fontan) at 3-5 yrs.

4. RASTELLI : in TGA /VSD/PS

b. Non-bypass surgery :

1. Shunt operation

2. Coarctation repair

3. PDA ligation

4.


AR

Examination findings :

- Dysmorphism : Associated syndromes

- No clupping or cynosis

- Pulse :

water humer pulse

collapsing pulse in carotid artery " corrigan's pulse"

wide pulse pressure.

- Inspection : Chest deformity ass with marfan.

- Palpation :

Displaced apex beat

Thrill

- Auscultation :

Murmur :

high pitch diastolic murmur @ left sterna border 3rd ICS " 2nd aortic

area" increases with sitting up and leaning forward.

Austin flint murmur ( mid diastolic murmur cuased by the effect

reguritant volume of blood on flow across the mitral valve ).

Soft 1st heart sound., 3rd heart sound can be heared.

Causes of aortic regurgitation :

- Congenital : ass with

ehler's-danlos , marfan ,

turner syndrome

- Acquired :in

rheumatic fever

after treatment of aortic stenosis

after infective endocarditis.

Complications of aortic regurgitation :

- left ventricular volume over load and distension.

- left atrial pressures increase .

- pulmonary oedema

- reduce excrsice tolerance

- ischemia due to inability to maintain diastolic pressure.

Investigations :

- ECG : show left ventricular hypertrophy

- C-X-RAY :cardiomegaly.

- ECHO

Treatment :


- Surgery :

Valve replacement before irreversible left ventricular damage occur.

Plus anticoagulant therapy.

- Indication of surgery : excersice induce symptoms.


S.D.

Examination finding in ASD:

a. General :

Dysmorphic features : of holt oram , van-creveled

Normal Pt. well grown

Not clubbed , cyanosed or distress.

b. Palpation :

Apex beat not displaced.

May have Lt. Parasternal Heave.

No thrills.

c. Auscultation:

Wide Fixed split 2ed H.S.

+/- Systolic Murmur in Lt. 2ed I.C. Space (grade 2-3/6) due to increase flow

across the pulmonary valve without radiation.

Diastolic murmur in large defect due to increase flow across the tricuspid

valve.

Discussion

What are Types of ASD?

Ostium secundum (common ) fossa ovalis defect

Ostium primum : partial AVSD.

how u confirmed diagnosis?

CXR.

ECG :

o Ostium secundum : Rt. Aix D (Rt. Ventricular Hypertrophy/RBBB).

o Ostium primum :lt axis deviation , RBBB

Echo.

How u manage the pt with ASD?

Asymptomatic ASD → F/Up .(not close spontaneously like VSD)

Time of surgery : Surgery 4—5yr.to prevent arrhythmias.

Types of surgery :

Trans catheter closure device (angel wings or cardio seal device) after 5

year of age. Or

bypass surgery.


What indication for bypass surgery?

Larger defect.

Unusually shaped ASD not suitable for device closure.

What are complications of ASD if left untreated?

Atrial arrhythmias

Pulmonary HTN.

Heart failure.

Esemenger syndrome.

What are associated syndromes with ASD ?

Holt oram-AD ( + absent radii ).

Van crevelled syndrome -AR ( + polydyctly + dysplastic nail and teeth + short

ribs )


Dextrocardia

Important definitions :

- Situs solitus : normal arrangement of organ.

- Situs inversus : reversed arrangement of organ.

- Levocardia : normal position of the heart.

- Dextrocardia : reverse of heart."right sided heart "

- Situs inversus totalis ( = situs inversus + dextrocadia ): complete transposition

of abdominal organ + dextrocardia.

- Situs inversus incompletes = situs inversus with levocardia.

- Situs ambigus : cannot idenitified organ.e.g liver in the midline , spleen

absent.

Examination finding in dextrocardia:

- Not dysmorphic .

- May be distress.

- Not cyanosed.

- May be clubbed (in case of kartegner syndrome)

- Pulse normal

- Apex beat more prominent in the RT. 4th ICS. Midclavicular line.( all other site

for pulmonary and aortic are reversed also ).

- Heart sounds normal

- No murmur.

- I want to complete examination :

Examine abdomen for situs inversus.(liver on left side and spleen in

the rt.side).

ENT recurrent ear infection

Ask about hx. Of frequent chest infection to support diagnosis of

kartagener's syndrome.

Discussion

What are cause of dextrocardia ?

- AR , x-linked.

What are association of dextrocardia ?


- Isomerism ….polysplenia , asplenia

- 25% having 1ry ciliary dyskinesia.( kartegener syndrome = situs inversus

+bronchetasis + 1ry ciliary dyskinesia )

Why these children having frequent chest infections?

- Dextrocardia associated with 1ry ciliary dyskinesia and nasal polyps "

kartegner syndrome " and as result of these they get frequent chest

infections and sinusitis.

How would you diagnose 1ry ciliary dyskinesia ?

- Saccharin test : to assess muco ciliary clearance which delay for more than 1h.

in case of 1ry ciliary dyskinesia.

- Nasociliary brushing : to look for function of cilia looking for :

Ultrastructure under electron microscopy.

Absent dynnein arms on the cilia. by photometry.

In case of situs inversus either :

1. normal heart in case of :

- Dextrocardia + Situs Inversus ( totalis .)

- Dextrocardia + 10 Ciliary Dyskinasia .

2. heart defect incase of :

- isolated dextrocardia Without Situs Inversus.

- Dextrocardia With atrial Isomerism.

- in Levocardia with Situs Inversus ( 95%Heart defect)

Dd of dextrocardia :

- Chest problem ---- pushing or pulling defect.

- Isolated dextrocardia

- As part of kartegner syndrome ( dextrocardia + 1ry ciliary dyskinesia)

- As part of situs inversus totalis .


Eisenmenger's syndrome

Examination findings:

- Old child above 10 years (usually).

- Not distress .

- Cyanosis , Clubbing

- Pulse : normal

- Chest :

Inspection :

Palpation :

Apex displaced.

Palpable S2 (high pulmonary pressure).

Left para - sternal heave.

Auscultation :

Loud pulmonary component of 2nd heart sound.

Short ejection systolic murmur @ left USE(ejection of blood into

dilated pulmonary artery) + ejection click.

Diastolic murmur @ left sternal edge.

Soft pan systolic murmur @ lower left sterna edge ( VSD cause of

esmenger).

Discussion

What is eisenmenger's syndrome ?

Is the condition in which longstanding left —right shunt due to congenital heart disease

causing pulmonary hypertension lead to reversed of shunt (rt – lt shunt) or bidirectional

shunt at ventricular or atrial level or aorto pulmonary.

What is cyanosis ?

is bluish discoulration of skin or mucus membranes , easily detectable when there is more

than 5 g/dl of deoxygenated blood in the skin capillaries. It can be central or peripheral .

what are causes of cyanosis ?

- Central cyanosis due to : decrease O2 saturation of arterial blood less than 75%.(if

hb b/w 12 ---16 g/dl).

- Peripheral cyanosis due to : poor perfusion of the vessels.

- Presence of abnormal pigments sulphaemoglobin or methaemoglobin in the blood

stream.( confirm by spectroscopic examination).

N.b : in polycythaemia cyanosis may present inspite of normal spo2 , or cyanosis

can't appear in concomitant

What are complications of essmenger syndrome ?

- Fainting (also known as syncope)

- Heart failure


- Abnormal heart rhythms

- Bleeding disorders / Coughing up blood due to increase pulmonary pressure.

- Iron deficiency due to destruction of rbcs.

- Infections (endocarditis and pneumonia)

- Kidney problems

- Stroke due to hyperviscosity .

- Gout (rarely) due to increased uric acid resorption and production with impaired

excretion

- Gallstones

What are causes of essmenger syndrome ?

- ASD , VSD , PDA


- CBC and HCT : High blood cell count ( due to increase erythropiotien production

due to prolong hypoxia )./ anaemia.

- C-x-ray : right ventricular prominence

- ECG :

peaked P wave (Rt atrial hypertrophy ) .

Rt axis deviation .

Rt ventricular hypertrophy (tall R waves in V4R and V1).

What is the Treatment?

- Medical treatment involves of pulmonary vasodilators

- Heart lung transplant.


Prostatic valve

What are types of valve ?

- Mechanical ( synathetic material): last more than 20 yrs , need anticoagulant

, click

- Tissue ( animal tissue) : last 8-10 yrs , no anticoagulation , no click.

- Donor valve

Pacemaker in children:

- Permanent pacing in children or adolescents is generally indicated in :

1. symptomatic sinus bradycardia,

2. recurrent brady cardia-tachycardia syndromes : is complication of post

surgery

3. congenital AV block, and

4. advanced second- or third-degree surgically induced or acquired AV

block.


Operated Fallot' Tetralogy

Inspection :

- Growth Retardation

- ± Clubbing./ cyanosis.

- Pulse : weak or Absent Radial in association with classical BT shunt

- Face : central cyanosis if not corrected., plethoric face and conjectival

injection.

Chest :

- Inspection :

o Lat Thoracotomy scar/s (right first if fail left ) with absent pulse in

case of BT shunt ( Gore- tex conduit b/w subclavian and pulmonary

arteries ).

o Mid-sternotomy Scar in case of definitive repair.

- Palpation :

o Apex beat not displaced.

o 2nd heart sound single and not palable.

o Left parasternal heave

o Thrill systolic palpable at ULSE.(50%).

- Auscultation :

o S2 either single or soft pulm. Component.

o Ejection Systolic M. at ULSE 2nd ICS.

o Continuous murmur (BT shunt) (over scar itself or below the rt .

clavicle) in case of lateral thoracotomy.

o Aortic ejection click.

Discussion

Fallot tetralogy is one of the complex congenital heart disease .

What are Components of falot tetralogy ?

- Rt. ventricular out flow obstruction.

- VSD.

- Overriding of aorta.(25% rt aortic arch)

- Rt. Ventricular hypertrophy.


- CBC : Hb / packed cell volume if cyanosed.

- CXR : boat shape "prominent Rt ventricle" , pulmonary oligaemia


- ECG : right axis deviation , RT ventricular hypertrophy , P wave is tall

- Echo.

What is the treatment ? MDT :





haematocrit.


- Dietien : increase







Complications tetralogy of fallot :

- FTT.


- Cerebral thrombosis/brain abscess


- Arrhythamia




100% O2.






If more sever : potent vasoconstrictor "nor adrenaline." + artificial

ventilation.


What advice you give to mother ?


1st 6 monthes after operation prophylaxsis endocarditis.

good oral hygien.

Nutritional support.


Rheumatic heart disease

Present as :

- Double mitral valve (pansystolic murmur radiate to axilla and diastolic murmur)

- Mitral valve reguiregetation + aortic valve lesion.

- Prostatic valve .

Presentation : rheumatic heart disease , signs of infective

Discussion

- Rheumatic fever follow group A streptococcal b-haemolytic disease.

What are cardiac problem in rheumatic heart disease ?

- Pancarditis with valve in suffiency .

- Valve lesion :

Mitral regugetation ( common valve ) due to pancarditis

mitral stenosis. … chronic rheumatic

Aortic regurge / stenosis.

- Heart failure

- Atrial Arrhythmia.

- Pulmonary oedema and emboli.

- Infective endocarditis.

What are causes of heart disease in rheumatic fever ?

- Autoimmune response

What are Investigations of rheumatic heart disease ?

- CBC .

- ASO TITRE .

- ESR / CRP .

- Tropomyocin (heart reactive antibodies).

- Throat swab for c/s.

- C X RAY .

- ECG .:

sinus tachycardia/bradycardia.

Prolongation of PR interval.

2nd and 3rd degree heart block.

ST segment elvation

Atrial flutter / atrial fibrillation.

- ECHO .

- Histological antibodies : Aschoff bodies (perivascular foci of eosinophilic collagen

surrounded by lymphocytes, plasma cells, and macrophages) are found in the

pericardium .


Management : MDT

- Pediatric cardiologist for :

1ry prevention : oral antibiotic pencillin V for 10 days against group A

streptococcus .

2ry prevention to avoid recurrent rheumatic fever by monthly pencillin G

benzathine for :

Rheumatic without carditis 5yr or 21 yr of age whichever longer.

RH with carditis but without residual heart defect 10yrs or 21yrs

of age

Rh + carditis +valve lesion 10yr or 40 yrs

Aspirin

Treat Carditis and heart failure : Prednsolone .

Treat heart failure :

Admission . Cardiac bed

Restrict fluid.

DIURETICS and ACEI in case of heart failure.

Treat Sydenham chorea : haloperidol

- Pediatric cardiac surgery. For :

replace the damage valve by prostatic one.

Prophalaxis antibiotic.

Anticoagulant for prostatic valve.

- Dentist.

- Dietien.

What are criteria to diagnose rheumatic fever : (jones criteria) we need either :

- 1 required criteria + 2 major criteria. or

- 1 required criteria + I major + 2 minor

- Sydenham chorea can diagnose.

1. Required criteria : evidence of streptococcal infection :

ASO , strept group A antibodies , recent scalet fever , strept group A throat

culture.

2. Major criteria :

Carditis

Polyartheritis

Chorea

Erythema marginatum

Subcutaneous nodules.

3. Minor criteria :

Fever

Artherlagia

Acute phase reaction ESR/ CRP/leukocytosis.

Prolong PR interval in ECG.

Previous rheumatic fever.


WILLIAM SYNDROME

Features of wiliam syndrome :

Face :

- Short palperal fissure

- Blue eyes , Stellate calcification of irises

- Medial eyebrow flare

- Prominent lip, open mouth "chaty"

- Small chin and small teeth.

CVS :

- Supravalvular aortic stenosis.

- Less commonly : AS, PS .

CNS:

- Mild microcephaly

- Learning difficulties.

Skeletal :

- Mild IUGR.

- Hypoplastic nail.

Others :

- Bladder diverticula

- Renal artery stenosis.

Association of William :

- Aortic stenosis .

- Renal artery stenosis.( middle aorta syndrome).

- Hypercalcaemia

- Learning difficulty.

What questions you will ask for parents ?

- Did he have during neonatal period hypercalcaemia?

- Did he receive additional help at school ?

How you confirm the diagnosis ?

- FISH study for microdeletion of chromosome 7.

- ECHO for aortic stenosis.


Obesity

Causes of obesity:

o Chromosomal

- Down syndrome

- Kleinfelter (tall)

- Prader willi (P W)

- Laurance moon biedl – mental retared.

- (bardet – biedl( B-B) no mental retardation)

o Endocrine

- Growth h. def.

- Hypothyroidism/pseudohypoparathyroidism(PHPT)

- Cushing's syndrome

- Poly Cystic Ovary Syndrome.

o Oncological

- Pituitary tumour.

o Simple obesity (tall)

o Pickwickian syndrome :( gross obesity , somnolence , hypoventilation during

sleep , 2ry polycythaemia , right ventricular failure.)

Approach to child with obesity:

introduction:

- Introduce ur self

- Intellectual impairement (PW ,B-B ,Down , hypothyroidism)

- Sleepy (pickwickian)

General inspection:

- Dysmorphic features : pader – willi (PW)/laurance moon biedl.(B-B)

- Growth parameters :

Height:

Tall (simple obesity , klinefelter )

Short (endocrine or syndromal causes)

Head circumference : enlarge (hydrocephalus in spina pifida )

BMI /WT

- Resp. rate : hypoventilation (pickwickian syndrome)

Hands:

- Small (PW)

- Short 4th metacarpal (PHPT).

- Polydactyly / scars from removal of additional digits (B-B)

- Pulse: slow (hypothyroidism) ,bounding (pickwickian)


BP :HTN in cushing's /complication of obesity.

Head :

- Chubby face or moon face.

- Eyes : squint ,Wearing glasses – laurance moon.

- looking for dysmorphic features ( p 161 w.haris)

Neck :

- goiter in hypothyroidism

- acanthosis nigracans (insulin resistant)

Cardiorespiratory :

- for evidence of cor pulmonale (loud 2nd heart sound , RT. Ventricular

hypertrophy).

- Gynecomastia

-

Abdomen:

- Inspection :

Striae (in cushing's)

Scars :

hernia repair and

Peritoneal dialysis scar.

Renal scar : ass with laurance moon

- Palpation :

Hepatomegaly(RT heart failure in pickwickian).

Adrenal mass (in cushing's)

- Genitalia : hypogonadism (pw . b-b , kallaman , klineflter)

Back :

- buffalo hump (cushing)

- kyphosis by asking to touch his feet (in cushing's).

- scoliosis by asking pt to touch his feet (in cushing's or in spina pifida).

- Midline scar (repaired myelomeningocele).

To complete examinations:

- Lower limbs :

Gait : Ask him to walk looking for limb (trendelenberg's +ve in

SCFE).

Ask child to stand from sitting position (proximal myopathy in

cushing's)

Inspect for Small feet (PW).

Inspect Limb shorting /external rotated (slipped capital femoral

epiphysis)

Palpate for ankle oedema (R.heart F. in pickwickian)

Hip examination

Reflex delay relaxation of ankle jerks (hypothyroidism).


- Skin for : acanathosis nigracans , striae ,

- Hearing : impaired in (alstrom's , kallmann's)

- Development and puberty staging .

Discussion :

Def of obesity :

- it is BMI above 98th centile for age and sex.

- Waist circumference for measure of fat distribution. In normal people

waist is less than 1/2 of height.

- Caliper pinch skin and subcutaneous adipose fat

How you catagorise BMI?

-

What are problems of obesity?

- Hypertension

- Non- alcoholic steathepatitis

- Hypercholesterolaemia – IHD , STROKE.

- Insulin resistance (acanthosis nigricans)

- Type 2 DM.

- Obstructive sleep apnea.

- PCOS

What Investigation of obesity ?

- Thyroid function

- Fasting glucose

- Lipid profile

- Insulin levels

What is Management of functional obesity ?

- Prevention : health school dinners , free fruits

- Weight reduction programmes: healthy eating , exercise , limiting time

watching TV.

Indications of drug ( orlistat ) treatment in adolescent :

- Severe orthopedic problems

- Sleep apnea


- Psychological comorbidities.

Acanathosis nigrcans :

- Def.: occur in neck , axilla and

- Stages : 3 stages :

Mild : to the skin of neck

Moderate : deep in the skin

Severe : on the part other than neck.


Prader-Willi Syndrome

1. growth parameter : Short / Over-Wt.

2. fair hair , narrow forehead

3. dysmorphic features :

- Eyes : Almond , blue eyes e strabismus, epicanthic fold , small and upward-

sloping palperal fissures.

- Nose : Flat nasal bridge. , Upturned nose.

- Ears : Railroad track ear.

- Mouth : Smooth phlitrum , thin upper lip./ micrognathia.

4. hands : small hands e clinodactyly of 5th finger bilaterally.

5. Cvs :

6. gentilia : hypogonadism with micropenis.


- plot in growth chart.


Discussion

What are charcters of P W?

- Floppy & poor feeding early.(and then become overeating).

- Developmental delayed.

- LOW IQ.

What questions you would like to ask parents?

- Is pt. quite floppy when he was baby?

Yes.


- Is he having any feeding problem when he was baby?

Yes.

- Is pt need educational support ?

yes needed b/c have low IQ.

Explain the inheritance pattern of this syndrome ?

- Genetic Imprinting : CH 15

Paternal Uniparental : which means two gene come from

mother.(confirm by DNA anylasis).

Denovo deletion of father gene (only mother gene expressed).


- Behavioural problem

- Cardiac and resparitory complications arise 2ry to obesity. Reduce life

expectancy.

Table 2: Consensus diagnostic criteria for Prader-Willi syndrome


Laurence-Moon-Biedl Syndrome

1. growth parameters: Tall + V. Over Wt. +No striae.

2. hands : for Poly dactyly .

3. eyes : Blind (with Eye Glass ) ⤍ Retinitis P.

4. cardio respiratory : loud p2

5. abdomen :hepatomegaly ( RVF in pickwickian )

6. genitalia Crypt-orchidism + Micropenis

7. Developmental Delay.

Discussion

What is pathogenesis of this condition?

- AR conditions. Metabolic error, Failure of normal embryologic development.

What is prognosis ?

- Handicapping due to Mental retardation.(bardiet – biedel ….no mental

retardation

- Progressive Vision loss

- Progressive Spastic diplegia.

Investigations :

- Thyroid function

- Fasting glucose

- Lipid profile

- Insulin levels

- Genetic test.

Management plan:

MDT

- Pediatrician.

- Psychologist.

- Ophthalmologist.

- Gentist.






watching TV.



- Sleep apnea


-


Short stature approach

The Examiner will ask you " This is A Yr old Child please examine him (

This means you should Examine for Stature.

∆ ∆ of short stature:

A. Dysmorphism:-

1. Turner's S. / Noonan's S. (A.D. / Ch.—12.)

2. skeletal dysplasia : A Chondroplasia., spondyloepiphyseal dysplasia ,

chondrodysplasia punctata , osteogenesis imperfect.

3. Muco-poly-sacchardoses .

4. Russel Silver S.(uniparental D./ Ch.—12)

5. Prader – willi.

6. Sanjet-sakatti- syndrome.

7. Rubenstein –taybi.

B. Over /Normal Wt. (may be Endocrinopathy)

1. Familial .

2. Constitutional .

3. Hypothyroidism.

4. Hypopituitarism.(growth h. def.) C/F of ↑↑Intra Cranial Pressure (

Visual Field / Fund).

5. Cushing S.

6. precocious puberty.

C. Under Wt.:(ch disease) Celiac D , Cystic Fibrosis., I.B D. Social Neglect

OR

Dd of short stature :

a. Dysmorphic : russle silver , noonan's , turner , down , prader willi ,pseudo-

hypo-parathyroidism.

b. Not dysmorphic :

1. Proportionate: ( involve both trunk and lower extremities)

constitutional , familiar/genetic ,

IUGR , ch. Malnutrition ,

celiac disease ,

chronic disease (CRF , CLD).,

GH def. , hypogonadism , acquired hypothyroidism

2. Disproportionate : ( involve one more than others).

Short limbs :


Achondroplasia , hypochondroplasia

Deformities due to : Oesteogensis imperfect and rickets

Short trunk : Congenital hypothyroidism , Metabolic and storage

disorders ( mucopolysachardosis , ).

Short Stature-approach

It comprises four parts:

- General observation

- Measurements

- Manvours

- Systemic relevant examination.

1. General measures :

- Introduce yourself , wash your hand , take permission.

2. Observation :

Equipments : ……

Dysmorphic Features : direct examination accordingly: turner ,

noonan syndrome., russel – silver ,…..

Growth : (short-obese/short-thin) My Pt. look short and I would like to

Plot the Wt. & Ht. hc in appropriate Chart.

3. Measursement (growth parameter) : postponding at the end , mention only.

Check the height : ask the child to stand against wall and take height.

Check the lower segment from symphsis pubis to the ground

Upper segment = total height – lower segment

Then Upper segment / lower segment ratio.

Check Arm span and compare with the height .

Check Weight and head circumference .

4. maneuvers :

a. Inspect from the front :

Screen for asymmetry (maneuvers1) Put the palms together with

the arms out straight , and stand with legs together ……..russell-

silver syndrome.

Screen for carrying angle (maneuvers2):ask the child to hold the

arms by the side , with the palms forward. Increase carrying

……turner /noonan syndromes.

Restrict elbow extension …..hypochondroplasia.


Screen for short lims (maneuvers3) ask to touch his shoulder with

tips of his thumbs :

If overshoot it's proximal segment "humerus" shortening

(rhizomelic)……….. achondroplasia.

If thumb does not reach shoulder it's either :

Middle segment "radius /ulnar" shortening (mesomelic )

……..ellis van crevel syndrome.

Distal segment shortening(acromelic)…. acromesomelic

dysplasia.

Non-rhizomelic/mesomelic (short arms and trunk)

hypochondroplasia ,mucopolysaccharidoses , GM1.

Screen the hands :

ask child hold the palms up(maneuvers4) look for :

o siaman crease …….down

o clinodactly ……….russell-silver .

o short fingers ……hypochondroplasia.

o Polydyctly …….ellis-van creveled/laurance moon.

o Syndactly ……..apert syndrome

o Joint contracture and scars.

turn the hands over (maneovur 5) look for :

broad short /trident deformity ……achondroplasia.

Hypoplastic /Hyperconvex nails …….turners syndrome.

Ask the child to make a fist (manoevurs6) : look for short

4th metacarpal …….pseudohypo parathyroidism/ turner.

b. Inspect from the side : ask the child to stand by his arms on his side

:(maneovur 7)

Head : Prominent forehead ……achondroplsia , Flat occiput

……down

Eyes : Proptosis ……..craniosynostosis.

Mandible : Micrognathia ……pierre robin sequences , Prognathism

……. Achondroplasia

Fingers reach the proximal thigh …..short limb , Fingers reach knee

…..short trunk only "spinal irradiation".

Back : lordosis/thoracolumbar kyphosis …..achondroplasia

c. Inspect from the back (manoevur 8) : for

Neck : Short neck …..klippel feil , noonan. Neck webbing …..

turner/noonan. Low hair line ……turner/noonan/ klippel feil.

Scolosis : ask the patient bend forward to differniate b/w postural

and positional scolosis


5. Systemic examination : according to case

- Chest examination :

Inspect for : wide-space nipple "turner" , tanner staging in girls.

Palpation : precordium

Percussion : hyper ressonace chest.

Auscultation : pre-cordium for murmur

- Abdomen examination :

6. systemic examinations ( To complete my Examination):

a. Look at the Parents ( M. Parental Ht.).

b. Plot Pt. in Growth Chart (Wt. / Ht. / Head Circum / Growth Velocity)

c. Pubertal assessment .

d. Developmental assessment.

e. Genitalia .

Investigation :-

1. looking for chronic disease (sweat test ,coelic screen , urine dip ,etc)

2. C.T. Head. / X.R. for Bone Age.

3. looking for endocrinopathy :

- Hormonal Assay ( T.F.T. / G.H. )

- Insulin –like growth factor 1

- Urinary free cortisol excretion.

4. Chromosomal analyses./ white cell enzyme

5. looking for ass anomalies in syndromes: renal

us/audiology/echo/ophthalmology.

Management :-

1. Reassurance if Familial / Constitutional.

2. Growth H. ± Oxandrolone. If turner.

3. If hypothyroidism (Auto immune Thyroiditis)⤍ Thyroxin.

4. Growth H. (S/C inj.) indicated in :

- Turner S.

- Chronic Renal Failure.

- Prader W.S.

- Growth Hormone Def.

- Small for gestational age (if no catch up growth before 4years).


Side effect of G.H. :-

- Tissue Damage at inj. Site.

- Headache .

- Oedema in pt with turner ./water retention lead to HTN.

- Hypothyroidism.

- Scoliosis .

- Insulin Resistance ./GTT.

- Cancer.

- Slipped upper femoral displasia

Interpretation of Measurement :

1. Upper segment / lower segment ratio

- Upper segment = height – lower segment "symphsis pubis to foot"

Age Normal us/ls ratio

Birth 1.7 : 1

3yrs 1.3:1

8 yrs 1:1

18 yrs 0.9 : 1

Interpretation of upper segment/lower segment ratio :

Slow growth with normal ratio (propatinate )

Increase ratio us> Ls (suggest short limbs to trunk).

Decrease ratio us<ls (suggest short trunk to limb)

- Delay puberty - Hpopitutarism - Constutional - Nutritional

- skeletal dysplasia -achondroplasia

- hypothyroidism - turner syndr. - ellis-van creveled.

- scoliosis. - osteogensis imperfect. - mucopolysacharidosis - klippel-feil sequence.

2. Arm span : Normal arm span – total height :

- Birth-7yr …….( -3 cm.)

- 8-12yrs ………( 0 cm.)

- 14 yrs ……… +4(boys)/ +1 (girls).

Interpretation of arm span :

- Short arm span can occur with skeletal dysplasia , appearent long arm span

with short neck , trunk and legs.


- Arm span is less than the height with high US:LS indicate : short limb and

normal trunk , or normal limb and long trunk.

- Arm span is less than height with low or normal US:LS ratio , indicate short

trunk and limb.

- Arm span is greater than height with low US:LS , indicate short trunk and

normal limbs.

Familial Short Stature Constitutional Short Stature Pathological Short Stature

↓3rd Centile ↓3rd Centile ↓3rd Centile

↔ MPH ↓ MPH ↓ MPH

BA = CA Normal BA = Height Age < CA BA < HA<CA


Turner's Syndrome approach


- Equipments.

- Dysmorphism

- Growth parameter and measurements :

look Short Girl (plot her in turner growth chart).

Measure for height /lower height , weight and head

circumference.

2. Arms: maneovurs and systemic examination

- Ask pt. to turn palms up (maneovurs1):

- Ask child to turn hand over look for :

Hypoplastic and hyper concave toenails , and finger nails.

Oedema of hands and feet in neonate.

Increase body hair on extensor surface of lower arm.

- Ask child make fist ( maneovurs2) :

Short 4th and 5th metacarpals. and metatarsal.

- Examine peripheral pulses and BP.(systemic examination)

- ask the child to hold the arms by the side , with the palms forward

(maneover 3) looking for Widened carring angle (cubitus valgus).

3. Head and neck : maneovurs

- Look from front for :

Down slanting eyes.

High arched palate. (Gothic Palate .).

Thyroid swelling in the neck

Ears : Prominent dysplastic ears , look in ears for glue ears.

- Look from side for :( maneover)

Ears : Prominent dysplastic ears , look in ears for glue ears.

- Look from the back for : ( maneover) Low posterior hairline , Neck short

and webbing.

4. Chest: systemic examination

- Inspection for :

Shield chest., Widely spaced nipples ,

Scars from cardiac surgery , Excessive naevi ,

Breast development. , Axillary hair

- Auscultate for murmur of coractation.

5. To complete examination by looking for:

- Pubertal staging (failure puberty)

- Plot him in growth chart of turner's

- 4 limbs BP- coarctation of aorta. and checking for radiofemoral delay.


- Abd (horseshoe kidney)

- Assessment of hearing.

- Assess Thyroid status (autoimmune hypo thyroidism)

Discussion

What is mode of inheritance of turner?

- 45 XO…..50%.

- 45XO/46 XX ….15%

How you diagnose turner syndrome?

- Karyotyping.

- U/S antenataly …..increase nuchal thickness.

- Consider in any girl short and delay puberty.

What are Clinical features?

Oedema of hands and feets in infants

CVS:

- Coarctation with bicuspid aortic valve.

- Aortic stenosis and aortic aneurysms.

- total anomalous pulmonary venous drainage

Renal :

- Horseshoe kidney

- Pelvic kidney /pelvi uretric j. obstruction.

Ear:

- Glue ears

- Sensoneural hearing deficit.

- nasal quality voice

Delay puberty:

- Streak ovaries- ovarien dysgenesis.

- Increase gonadotrophins – hyper gonadotrophic hypogonadism.

What are the assossciatons of turner ?

- Autoimmune thyroiditis

- IBD./ coelic.

- Oesteoprosis and spont. Fractures.


What are investigations for turner ?

- CBC

- TFT : hypothyroidism

- FSH / LH are high.

- ABD U/S : horseshoe kidney.

- ECHO

What are complications ?

- Endocrine complications :

Growth and pubertal development

Insulin resistance

Hypothyroidism

- Infertility

- CVS : Hypertension

- Hearing loss

- Amblyopia.

- MSK : Scoliosis.

- Neurodevelopmental difficulties.

What is the management ? MDT include : pediatrician , endocrinologist , obstrician ,

, cardiologist and nephrologist . opthalomolgist. audiologist , orthopedic surgeon

1. Pediatrician is team leader.:

- montoring of complications

- screening for congenital anomlies " cardiac and renal".

2. Endocrinologist for :

- ttt of Growth Failure by :

Growth H.(start as early as possible) high doses needed.

Steroids – oxandrolone

- ttt of Pubertal delay By : Estrogen replacement at 12 years.

- Hypothyroidism

- Insulin resistance.

3. Obstrician for ttt of Infertility By : with advance In vitro fertilization " IVF".

4. Cardiologist for coarctation and hypertension.

5. nephrologist for horse shoe kidney.

6. Audiologist for hearing loss.

7. Ophthalmologist for amblyopia.

8. Spinal surgeon for scolosis.


Compare b/w turner and noonan

NOONAN TURNER

- - Normal Karyotype - AD-Ch 12. - male and female.

- XO. - Female only affected

CF CF: short stature. - Face: Hyper telorism , anti mongoloid slant , epicanthic folds, ptosis . low set ears . micrognathia , high arch palate , short webbed neck. - chest : widely spaced nipples , pectus excavatum. - arms: cubitus valgus - at birth : normal length at birth , feeding difficulties.

CF: - SAME AS NOONAN. - At birth : short , feeding difficulties

, oedema of hands and feet.

Cardiac lesion .Vavular PS /branch PS. .HOCM/cardiomyopathy. .ASD.

.Bicuspid aortic valve

.Coarctation of aorta

.AS

IQ 25% Mental retarded Mental retardation rare.

Fertility .Female: fertile /delay puberty .Male: infertile /cryptorchadism/ /micrpens.

Female: infertile /streak ovaries No male

COMPLICATIONS .30% Coagulation defects (VWD, Thrombocytopenia , clotting factor defect) .Hernia ,kyphoscolosis

.Renal abnormalties , (Horseshoe Kideny).

.Thyroid disorders.


Achondroplasia approach

1. General observations:

- Equipements and clues

- Dysmorphic features (see below)

- Growth and measurements: Short (plot in special achondroplasic chart).

measure height and lower segment , arm span , weight and head

circumference.

2. Arms and legs: (maneuvers + systemic exa)

- Manoevuer 1 : ask child to touch shoulder with tip of thumb Rhizomelic

shortening (Short humerus/femur).

- Maneovur 2 : ask pt. to hold palms up

- Maneuver 3 : ask pt. to turn hand over short & broad with trident

appearance .

- Laxity of Joints .

- Legs look for : Bow legs or knock knee.

3. Head and neck / back :

- Inspect from front for :

Large –hydrocephalus can be early complication.

Midfacial hypoplasia with flat nasal bridge . snoring

Maloculsion of teeth.

- Maneouver 4 : inspect from side for :

F. Bossing.

Flat nasal bridge.

Prognathism " protruded mandible".

Ears for chronic serious

Kyphosis " gibus in infant and disappear later " and lordosis.

Short hand not reach proximal thigh.

- Back examination (Maneovur 5 ): Inspect back for : scolosis in adolescence

4. Chest : systemic examination

- Heart : Pul. HTN (Obstructive sleep apnea) .

5. to complete examination by:

- Check the Mother (similar C/F)

- Offer to plot growth parameters in chondroplasia charts HC / sitting height.


Discussion

What is mode of inheritance?

- AD –ch 4P (50% new mutation).

What are distinct features of achondroplasia ?

- Short vertbera with intervertbral distance increase.

- Gibuss in infancy.

What are complications? Expected normal life span.

- Sudden death due to cervical cord compression b/c of small foramen magnum

(which lead also to vertical nystagmus)

- Hydrocephalus

- Ch. Otitis media (due to mal structure of ear bones)

- Reduce lung capcity

- Obstructive sleep apnea lead to pulm. HTN.

Investigations :-

1. Gene Sudy (FGFR3 mutation)

2. Skeletal survey : radiological finding:

- skull x-ray : large head with small formen magnum and spinal canal.

- spine : short vertebra bodies with increase intervertebral distances

(distinguishing from hypochondrodysplasia.)

- Limbs :

shorting femur and humerus "rhizomlic shortening" .

trident hand deformity " sepration of 3rd and 4th finger with all figers

same length".

3. C.T. Scan to measure foramen magnum/ spinal canal ( narrowed)

4. A sleep study (if suggest airway obstruction)

5. spirometry for reduce lung capcity.

Management (Multidisciplinary) :-

1. Pediatrician : as team leader. Screening for complications.

2. Dentist : for maloculsion teeth.

3. Pulmonologist : for restrictive lung disease.

4. Orthopedic surgery for scolosis.

5. Neurosurgeon for hydrocephalus.

6. ENT specialist for chronic otitis media.

7. Speech therapist .

8. Geneticist .


Difference between achondroplasia and hypochondroplasia

Achondroplasia Hypochondroplasia

Inheritance - AD , Ch 4 - New mutation.

- AD , CH4 - New mutation

Clinical features - Short arm and leg - Frontal bossing - Flat nasal bridge - Large mandible - Scolosis/lordosis.

- Short arm and leg - Same features but milder

forms.

Radiological features - Increase intervertbral distance .

- Normal

Complications - Sudden death. - Hydrocephalus - Obstructive sleep apnea. - Chronic otitis media.

- Same but with less frequently.

Intelligence and life span - Not affected. - Mentality mild affected


Russell-Silver Syndrome

1. General observation:

- Equipments

- Dysmorphism

- Growth parameter and measurements : I.U.G.R./LBW + Short stature.

Head circumference normal for age.

2. Limbs:

- Maneovur 1 : ask child to put palms together for Hemihypertrophy or

limb asymmetry.

- Maneovur 2 : ask child to put palms up for : Clinodactyly (curving of 5th

finger) , Camptodactyly(fixed flexion of the fingers) , Syndactyly of toes.

3. Head and neck:

- Inspect from front :

Small ,triangular face with high forehead

Normal head circumference with short stature (give appearance of

large head)

Late closure of AF.

Eyes : Blue sclera and café aula spots.(rare)

Mouth :

downturned corners of mouth and thin lips.

crowding of teeth , high pitch voice.

high arch palate (rare)

Ears :

Prominent ears /low set.

Chronic glue ear (rare).

- Inspect from side (maneovur) :

Scaphocephaly (long narrow head ) at birth.

Nose : Prominent nasal bridge .

Small mandible.

- inspect back for (maneovur ) : Sprengel neck deformity.(unilateral

shorting and webbing to trunk)

4. To complete examination:

- Genitilia : for hypospadius or undesnded testes.

- CNS : weak muscle tone.

- Plot his head , weight and height in growth chart.

What is the common characterstics?

- Feeding difficulties (GERD)


- Delay growth motor.

- Sweaty infant

- Hypoglycaemia

- Normal intelligence/main stream school.(some have learing difficulties).

- Phenotype Improve with time / Normal Life .

- Rare features : Cardiac / renal abnormalities , Growth h. def. vertebral

anomalies , scolosis , migraine , reflux , precocious puberty , ADHD , reflex

anoxic syncope., hydrocephalus.

How you diagnose clinically?

o Short stature and Characteristic facial features

o IUGR/LBW

o Clinodactyly of 5th finger.

o Asymmetrical somatic growth.

o Head : Apparent neonatal large head. and scaphocephaly (long narrow head).

o Poor post natal feeding and growth.

What further test ?

o Genetic testing: sporadic (most of the case)/uniparental disomy of ch 7

(10%)/AD and x-link.

o Bone age will be delay

o Screen for cardiac , renal , and wilms tumor

o X-ray changes:

- Ivory epiphysis of distal phalanges

- Small middle phalanx of little finger

- Pseudoepiphysis at the base of the 2nd metacarpal.

How you manage ?

Multidisciplinary Team.

- Geneticist. To confirm diagnosis.

- Endocrinologist : may prescribe growth hormone to increase final height.

- Community paediatrician


- Dietitian : to avoid hypoglycaemia. Increase calorie intake may required

gastrostomy tube.

- Physiotherapist


- Orthopaedic surgeon.: limb lengthening surgery.

- Speech therapy.

- Grommet insertion

What is long term prognosis ?

- Improve with time : phenotype become less

- Improve tone and motor coordination.

- Apetite increase and speech improves.

- Only thing persistent is short stature.

- Live normal life.


MPS- Hurler's and hunter Syndromes

1. General observations

Rapport to check for mentality.

Equipments : (wheel chairs) Developmental problems.

Position

Growth : short stature

Dysmorphic features: see below

2. Arms :

Large Broad Hands

Scar of carpal tunnel surgery correction at dorsum of the wrist.

Joint stiffness and contractures

3. Head

- Coarse facial features-thick skin.

- Large head with frontal bossing/ Prominent sutures, prominent orbital

ridge.

- Short neck.

- Flat mid face (mid facial hypoplasia).

- Nose :Broad flat nose/ Comment on nasal discharge.

- Eyes: thick eye brow , Corneal clouding (appear after 1 year and not

present in hunter)./Cherry red spot –present in GM1

- Mouth: Thick lips/large tongue/small jaw.

- Listen for stridor due to upper airway obstruction./noisy breathing.

4. CVS

- Cardiomyopathy

- Congestive heart failure.

5. Abdomen

- Umbilical hernia./inguinal hernias.

- Hepatosplenomegaly.

6. To complete examinations

- Spine for :Kyphosis / gibbus/scoilosis/ Lordosis.

- Skin nodules in scapula …..hunter.

- Developmental assessment including hearing (developmental regression).

- Look for hernia orifice and genitalia.


Difference b/w hunter and hurler syndromes

Hunter-type2 Hurler-type1

Inheritance x-linked AD

Corneal clouding No Yes

Severity Less More

………. Hypertrichosis

Scapular Nodules Yes No

Mentality affected Affected

Atlantoaxial instability Yes Yes

Investigations - idruonidase def. - Screening:Increase dermatan/hepran sulphate in urine. -alfa-L-idruonidase def. (confirmatory)

What is dd?

1. Other mucopolysaccharidosis

- Morquio: normal intelligence /severe physical features/laxative joints.

- Sanfilippo (type 3):severe mental retardation /less physical features

- Maroteaux-lamy syndrome : normal mentally.

2. Multiple sulfatase def

3. GM1 gangliosidosis

4. Mannosidosis

5. Fucosidosis

6. Mucolipidoses.

Complications of MPS 1:

- Atlantoaxial instability.

- High pressure hydrocephalus .

- Intracranial tumor.

Diagnosis:

- Diagnosis often can be made through clinical examination and urine tests

(excess mucopolysaccharides are excreted in the urine).

- Enzyme assays are also used to provide definitive diagnosis of one of the

mucopolysaccharidoses.


- Prenatal diagnosis: using amniocentesis and chorionic villus sampling can

verify if a fetus either carries a copy of the defective gene or is affected

with the disorder.

- Genetic counseling can help parents who have a family history of the

mucopolysaccharidoses determine if they are carrying the mutated gene

that causes the disorders.

Treatment MDT

- Currently there is no cure for these disorders. Medical care is directed at

treating systemic conditions and improving the person's quality of life.

- PHYSIOTHERAPY : Physical therapy and daily exercise may delay joint

problems and improve the ability to move.

- DIETEIN : Changes to the diet will not prevent disease progression, but

limiting milk, sugar, and dairy products has helped some individuals

experiencing excessive mucus.

- SURGEON :

Surgery to remove tonsils and adenoids may improve breathing

among affected individuals with obstructive airway disorders

and sleep apnea.

Sleep studies can assess airway status and the possible need for

nighttime oxygen. Some patients may require surgical insertion of

an endotrachial tube to aid breathing.

Surgery can also correct hernias,

- Neurosurgeon : help drain excessive cerebrospinal fluid from the brain,

and free nerves and nerve roots compressed by skeletal and other

abnormalities.

- Ophthalmologist : Corneal transplants may improve vision among

patients with significant corneal clouding.

- Enzyme replacement therapy (ERT)

- Bone marrow transplantation (BMT)

- The only curable type is HULER syndrome with bone marrow

transplantation.

What is the cause of death?

- Cardiorespiratory

What is the life expectancy?

- 2nd decade.

https://en.wikipedia.org/wiki/Mucus

https://en.wikipedia.org/wiki/Sleep_apnea

https://en.wikipedia.org/wiki/Bone_marrow_transplantation


Sanjed –sakati syndrome

CLINICAL APPROACH : as acase of short stature

General look :

- Status :

- Dysmorphism : look down.

- Growth :(measurements of short stature ) .look small and short , I want to

plot him in appropriate centile chart

Short stature … IUGR.

Hand : maneouvers of short stature.

- Small hand and foot.

- short 4th and 5th metacarpal bone.

Face : look to dysmorphism :

Microcephaly.(+/-)

Eyes : Deep set eyes / enophthamosis/ wearing glasses.

Nose :

Beaked nose

Depressed nasal bridge

Mouth :

Long philitrum

Micrognathesia

Dental hypoplasia

Ears : Thick and large ear

DISSCUSSION :

- It is "AR "composed of triad of : ( HRD )

Hypoparathyroidism

Retardation mentally ( developmentally delay and impaire IQ).

Dymorphism .

- What is the DD :

Russel silver

Diageorge syndrome.

- Pathophysiology :

- Investigation :

- Management : palliative

Ca + vit D3.

Low phosphorus formula


Growth hormone tried but not success.(they think may be related to

growth hormone)

Antibiotics prophlaxis pneumonia + vaccine.

Couselling + aminocentasis

- Complications :

Nephrocalcinosis

Nephroliasis

Renal insufficiency

Recurrent infection


Approach For Syndromic Pt. :-

1. Growth.

2. Head (Shape / Size / Sutures / Scars / Shunt )

3. Face (Shape / Symmetry / Bones)

4. Eyes (Epicanthic Fold / Palpepral Fissures / Ball / Lids)

5. Ears ("low" Set / Shape / Size / Auricles )

6. Nose ( bridge / pheltrum)

7. Mouth (Lips "cleft" / Palate / Gum / Tongue / Teeth)

8. Hands( Dactyly "Syn—brachy—clino—poly—arachno—absent")

9. Skin (Pigmentation /Neurocutaneous )

10. Back ( Scoliosis / Kyphosis )

11. I would like to complete my examination :-

Genitalia.

Other Relevant Systems.


Microtia

Dd of malformed ear :

- Goldenhar syndrome

- Treacher colin

- Charge association

DD of coloboma of the eyes :

- Charge syndrome

- Treacher colin.

Dd vertebral anomaly :

- VACTREL

- Goldenhar


Down Syndrome

1. General observations: see down

- Short for his age and sex

- Dysmorphic clear

- Equipment

2. HAND:

Small and broad hands

Transverse palmar crease.

Clinodactyly

Hyperextensibilty

Dermatoglyphics : Increase in unlar loops , Single flexion crease of his

5th finger. ,Distal axial triradius.

3. HEAD AND NECK:

Flat occiput

Round face

Hair: fine and sparse

Eyes : epicanthic folds /upslanting /brush field spots.

Nose :flat nasal bridge

Ears : small and low set ears

Mouth : protruding tongue (due relatively small mouth)

4. then to complete examination:

C.V.S. :

- Surgical scar.

- Murmur :AVSD / VSD

Abdomen :

- Scars : hirschsprung s disease./duodenal atresia/pyloric stenosis

- Anal atresia / biliary atresia

CNS : hypotonia

Lower limb :

- Wide sandal gap.

- Deep planter crease

Plot him in growth chart

Discussion

What are Eye problems in down ?

- visual impairment

- Cataract


- squints

what are E.N.T. problems ?

- hearing impairment

- secrtery Otitis media.

Developmental

Genetics of down syndrome :

- Non disjunction (95%) usually from maternal side

- Translocation 4% :

- Mosaicism 1%.

What are association with down syndrome?

- Intestinal atresia , duodenal atresia

- Developmental delay

- Learning difficulties

- Puberty delay with male infertility and female normal fertility.

- Hypothyroidism

- Leukaemia – AML …ALL.

- dementia

WHAT ARE INVESTIGATIONS:

- CBC : AML

- ECHO

- ABDOMINAL U/S

- X-RAY ABDOMEN

-

What are management plan? MDT

- Pediatrician

- Community pediatrician.

- Speech therapthist

- Education therapist.

- Physiotherapist

- Endocrinologist.

- Integration school better than special need school.


Fragile X. Syndrome

1. head and neck : Prominent :

large Head e large forhead.

long Nose .

long prominent Ears.

prominent Chin

2. hand : soft skin and hypermobility.

3. Genitalia : large Testes .


Plot him in appropriate growth chart.

Pubertal assessment.

IQ moderately reduce

Discussion

- Fragile x syndrome :

2nd common cause of learning difficulties . x-linked

recessive.

- How diagnosed fragile X syndrome?

Chromosomal analysis ---fragile long arm of chromosome X.

- Female can present with mild developmental delay.


Rubinstein-Taybi Syndrome

1. HANDS :

Polydactyl / Broad Thumbs / webbing of fingers.

Toes also broad webbed , short .

2. HEAD AND NECK :

Small Head.

Peaked Nose : Prominent columella


Plot him in growth chart.

Learning difficulties …play and speech delay.

DD of broad thumb :

- Apert

- Carpenter

- larsen

How diagnose ?

- FISH study microdeletion of chromosome 16

Treatment : MDT


Clinical characteristics.

Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial

features, broad and often angulated thumbs and great toes, short

stature, and moderate to severe intellectual disability. The characteristic

craniofacial features are downslanted palpebral fissures, low hanging

columella, high palate, grimacing smile, and talon cusps. Prenatal

growth is often normal; however, height, weight, and head

circumference percentiles rapidly drop in the first few months of life.

Obesity may occur in childhood or adolescence. IQ scores range from 25

to 79; average IQ is between 36 and 51.

Other variable findings are :

- coloboma, cataract, congenital heart defects, renal abnormalities,

and cryptorchidism.

Diagnosis/testing.

The diagnosis of RSTS is primarily based on clinical features.

Chromosome abnormalities are occasionally observed on routine

cytogenetic testing. CREBBP and EP300 are the only genes currently

known to be associated with RSTS. FISH analysis of CREBBP detects

microdeletions in approximately 10% of individuals with RSTS. Sequence

analysis detects CREBBP pathogenic variants in another 40%-50% of

affected individuals. Pathogenic variants in EP300 are identified in

approximately 3%-8% of individuals with RSTS.

Management.

Treatment of manifestations: Early intervention programs, special

education, vocational training to address developmental disabilities, and

referral to behavioral specialists/psychologists and support

groups/resources for family members; standard treatment for eye

abnormalities, hearing loss, cardiac defects, cryptorchidism, and sleep

apnea; surgical repair of significantly angulated thumbs or duplicated


halluces; aggressive management of gastroesophageal reflux and

constipation.

Surveillance: Monitoring of growth and feeding, especially in the first

year of life; annual eye and hearing evaluations; and routine monitoring

for cardiac, dental, and renal anomalies.

Genetic counseling.

RSTS is inherited in an autosomal dominant manner. RSTS typically

occurs as the result of a de novo pathogenic variant in the family; most

individuals represent simplex cases (i.e., the only affected member in a

family). In most instances, the parents of an individual with RSTS are not

affected. When the parents are clinically unaffected, the empiric

recurrence risk for sibs is less than 1%. Individuals with RSTS rarely

reproduce. The risk to offspring is 50%. Prenatal testing for pregnancies

at increased risk is possible if the pathogenic variant or deletion in the

family is known.


Diageorge syndrome


Angelman Syndrome

- Happy (hand flapping & laughter )

- Jerky-Broad based Gait.(like step of marionette)

- fair hair , microcephaly , maxillary hypoplasia with Large Mouth

and prominent chin.

Discussion

What you want to ask the mother ?

- Is pt suffer from eplipsy ?

yes

- Is pt need educational supports?

Yes , mental retardation., impairement of speech.

How condition inheritance ?

Genetic Imprinting :

- (Maternal Uniparental) Ch—15.(20%).

- Deletion of maternal copy of gene.(60%)


Apert / cruzon Syndrome

Causes of craynocentosis :

- Apert : with syndactly.

- Cruzon

- Carpenter

Comprasion b/w apert and cruzon:

Features Apert Cruzon

Syndactly Yes no Prominent eyes Less More

Management plan : MDT

1. Neurosurgeon for crynosntosis when there is compression on

brain.

2. Plastic surgeon for syndactly.

3. Ophthalmology

4. ENT for hearing


Fetal alcohol syndrome

General :

- Mild dysmorphic features

- Small for his age

Hand :

- Fingers : bent , fused , webbed or missing fingers., limited

movement

Head and neck :

- Small head.

- Eyes : small eye opening , epicanthic fold , drooping eyelids ,

nearsightedness.

- Ears : low set or poorly formed.

- Nose : Saddle shaped nose , short upturned nose.

- Maxillary hypoplasia, small jaw.

- Mouth : cleft palate , Absent philtrum ,Short and thin upper lip.

Chest :

- Deformed ribs and sternum

- Heart murmur .

Ureogenital system :

- kidney and urinary defect.

Back :

- Curved spine

To complete examination by:

- Plot growth parameters on appropriate growth chart.

- Gait : antalgic due to dislocation of hip.

- Developmentally delay in speech and play


What is fetal alcohol syndrome?

It is physical , mental , and neurobehavioural birth defect ass with

alcohol consumption during pregnancy.

What are features of FAS ?

1. Growth deficiencies : small body , failure to catch up.

2. Skeletal deformities : deformied ribs , curved spine , hip dislocation

, fused-webbed or missing fingers , small head.

3. Facial abnormalities : small eye opening , drooping eyelids ,

sunken nasal bridge. , small jaw

4. Organ deformities : heart defect , kidney and urinary tract defect.

5. CNS : small brain , learning disabilities


Gaucher's Disease(A.R.)

- Café-au-lait.

- Liver & Spleen.

- Erlenmeyer Flask Deformity in Femors.

- Three types :

Chronic –commonest. /

Acute /

Subacute)


POLAND SYNDROME : CHaracterise by :

- underdevelopment or absence of the chest muscle pectolaris on the side of the body

- also webbing of the fingers ( cutaneous syndactyly).


Obesity

Causes of obesity:

o Chromosomal

- Down syndrome

- Kleinfelter (tall)

- Prader willi (P W)

- Laurance moon biedl – mental retared.

- (bardet – biedl( B-B) no mental retardation)

o Endocrine

- Growth h. def.

- Hypothyroidism/pseudohypoparathyroidism(PHPT)

- Cushing's syndrome

- Poly Cystic Ovary Syndrome.

o Oncological

- Pituitary tumour.

o Simple obesity (tall)

o Pickwickian syndrome :( gross obesity , somnolence , hypoventilation during

sleep , 2ry polycythaemia , right ventricular failure.)

Approach to child with obesity:

introduction:

- Introduce ur self

- Intellectual impairement (PW ,B-B ,Down , hypothyroidism)

- Sleepy (pickwickian)

General inspection:

- Dysmorphic features : pader – willi (PW)/laurance moon biedl.(B-B)

- Growth parameters :

Height:

Tall (simple obesity , klinefelter )

Short (endocrine or syndromal causes)

Head circumference : enlarge (hydrocephalus in spina pifida )

BMI /WT

- Resp. rate : hypoventilation (pickwickian syndrome)

Hands:

- Small (PW)

- Short 4th metacarpal (PHPT).

- Polydactyly / scars from removal of additional digits (B-B)

- Pulse: slow (hypothyroidism) ,bounding (pickwickian)


BP :HTN in cushing's /complication of obesity.

Head :

- Chubby face or moon face.

- Eyes : squint ,Wearing glasses – laurance moon.

- looking for dysmorphic features ( p 161 w.haris)

Neck :

- goiter in hypothyroidism

- acanthosis nigracans (insulin resistant)

Cardiorespiratory :

- for evidence of cor pulmonale (loud 2nd heart sound , RT. Ventricular

hypertrophy).

- Gynecomastia

-

Abdomen:

- Inspection :

Striae (in cushing's)

Scars :

hernia repair and

Peritoneal dialysis scar.

Renal scar : ass with laurance moon

- Palpation :

Hepatomegaly(RT heart failure in pickwickian).

Adrenal mass (in cushing's)

- Genitalia : hypogonadism (pw . b-b , kallaman , klineflter)

Back :

- buffalo hump (cushing)

- kyphosis by asking to touch his feet (in cushing's).

- scoliosis by asking pt to touch his feet (in cushing's or in spina pifida).

- Midline scar (repaired myelomeningocele).

To complete examinations:

- Lower limbs :

Gait : Ask him to walk looking for limb (trendelenberg's +ve in

SCFE).

Ask child to stand from sitting position (proximal myopathy in

cushing's)

Inspect for Small feet (PW).

Inspect Limb shorting /external rotated (slipped capital femoral

epiphysis)

Palpate for ankle oedema (R.heart F. in pickwickian)

Hip examination

Reflex delay relaxation of ankle jerks (hypothyroidism).


- Skin for : acanathosis nigracans , striae ,

- Hearing : impaired in (alstrom's , kallmann's)

- Development and puberty staging .

Discussion :

Def of obesity :

- it is BMI above 98th centile for age and sex.

- Waist circumference for measure of fat distribution. In normal people

waist is less than 1/2 of height.

- Caliper pinch skin and subcutaneous adipose fat

How you catagorise BMI?

-

What are problems of obesity?

- Hypertension

- Non- alcoholic steathepatitis

- Hypercholesterolaemia – IHD , STROKE.

- Insulin resistance (acanthosis nigricans)

- Type 2 DM.


- PCOS


- Thyroid function

- Fasting glucose

- Lipid profile

- Insulin levels




watching TV.



- Sleep apnea



Acanathosis nigrcans :

- Def.: occur in neck , axilla and

- Stages : 3 stages :

Mild : to the skin of neck

Moderate : deep in the skin

Severe : on the part other than neck.


Prader-Willi Syndrome

8. growth parameter : Short / Over-Wt.

9. fair hair , narrow forehead

10. dysmorphic features :

- Eyes : Almond , blue eyes e strabismus, epicanthic fold , small and upward-

sloping palperal fissures.

- Nose : Flat nasal bridge. , Upturned nose.

- Ears : Railroad track ear.

- Mouth : Smooth phlitrum , thin upper lip./ micrognathia.

11. hands : small hands e clinodactyly of 5th finger bilaterally.

12. Cvs :

13. gentilia : hypogonadism with micropenis.


- plot in growth chart.


Discussion

What are charcters of P W?

- Floppy & poor feeding early.(and then become overeating).

- Developmental delayed.

- LOW IQ.

What questions you would like to ask parents?

- Is pt. quite floppy when he was baby?

Yes.


- Is he having any feeding problem when he was baby?

Yes.

- Is pt need educational support ?

yes needed b/c have low IQ.

Explain the inheritance pattern of this syndrome ?

- Genetic Imprinting : CH 15

Paternal Uniparental : which means two gene come from

mother.(confirm by DNA anylasis).

Denovo deletion of father gene (only mother gene expressed).


- Behavioural problem

- Cardiac and resparitory complications arise 2ry to obesity. Reduce life

expectancy.

Table 2: Consensus diagnostic criteria for Prader-Willi syndrome


Laurence-Moon-Biedl Syndrome

8. growth parameters: Tall + V. Over Wt. +No striae.

9. hands : for Poly dactyly .

10. eyes : Blind (with Eye Glass ) ⤍ Retinitis P.

11. cardio respiratory : loud p2

12. abdomen :hepatomegaly ( RVF in pickwickian )

13. genitalia Crypt-orchidism + Micropenis

14. Developmental Delay.

Discussion

What is pathogenesis of this condition?

- AR conditions. Metabolic error, Failure of normal embryologic development.

What is prognosis ?

- Handicapping due to Mental retardation.(bardiet – biedel ….no mental

retardation

- Progressive Vision loss

- Progressive Spastic diplegia.

Investigations :

- Thyroid function

- Fasting glucose

- Lipid profile

- Insulin levels

- Genetic test.

Management plan:

MDT

- Pediatrician.

- Psychologist.

- Ophthalmologist.

- Gentist.






watching TV.



- Sleep apnea



TALL STATURE

Causes of tall stature:

o Familial.

o Obesity.

o Syndromes:

Marfan

Homocystinuria

Sotos

Kleinfelter

Beckwith-wiedemann (normal final height)

o Endocrine:

Hyperthyroidism

Precocious puberty (final height decreased)

General approach to tall stature

- Observations.

- Measurements.

- Manoevures.

- Systemic releavent examination.

Task: look at the child and tell me what you observe


Talk to the patient : impair of intellectual with beckwith – wiedmann

,sotos and homocystinuria.

Well/ill., wearing glasses (myopia in marfan /homocystinuria)

Growth parameters: height –weight-head circumference

Dysmorphic features / abnormal features :

marfanoid features(direct your examination toward marfan

syndrome , homocystinuria)

eunuchoid habitus : klinefelter / kalman

asymmetry …NF1 , sotos

Thyroid signs (direct your examination)

2. Measurements : mention but do it at the end

Measure height .

Measure lower segment " distance from symphsis pubis to floor " ,

then calculate the upper segment , and upper segment / lower

segment ratio.

Measure arm span and compare to the total height.

Measure the head circumference and weight.


3. Manoevures :

Upper limbs maneovur:

a. Put the palms together with the arms straight , and stand with

the legs together to detect :

Asymmetry (hemihypertrophy) in beckwith-wiedeman

syndrome , McCune-albright , NF-1.

Asymmetry (unilateral growth arrest) in homocystinuria

with CVA.

b. Tests to detect hypermobility " marfan" / limitation of

extension "homocystinuria " in upper limbs (beighton score):

Opposing the Thumbs to forearm with wrist flexed

(2points)

Hyperextension of the fifth fingers over 90 "gorling's

sign"(2points)

Hyperextension of elbow (2points).

c. Test to detect arachnodactly "marfan" :

Steinberg (thumb sign) extention of distal phalanx of

thumb beyond the unlar border of the hand when

opposed across the palm.

Walker-murdoch (wrist sign) : over labbing of the

thumb and little finger when encircle the opposite wrist

d. Ask child to hold arms out straight in front with the fingers

spread apart check for Tremor to detect hyperthyroidism.

Lower limbs and back maneovurs:

e. Look from front : Put legs together while standing to detect :

Genu valgum (homocystinuria) , genu recurvatum

(marfan syndrome).

Pes planus (marfan).

f. Look from side to detect :

Kyphosis (ass with scolosis and in gigantism).

g. Look from behind to detect :

scolosis ( marfan , homocystinuria , sotos , NF1). Then

Ask the child bend forward and touch the toes

h. Tests to detect hypermobility in lower limbs (beighton score)

Ask the child to put their palms flat on the floor without

bending of knee (1point)

Hyper extended knees more than 10"genu recurvatum"

(2points)

4. Systemic examinations :

Upper limbs for Brachial pulses / BP :


Hyperthyroid (increase Rate/rhythm )

Marfan (high volume pulse –aortic root

dilatation)

Head and neck:

Mouth : high arched palate ,dental crowding

(marfan)

Thyroid eye signs (lid lag , eye protrusion)

Neck: Look for Goiter or scar from surgery

,Palpate for goiter , Auscultate for thyroid bruit.

Chest:

In Marfan look for : Café –au-lait spots ,

pectus excavatum , scars from surgery , CVS

examination

Precocious puberty: Signs of puberty (breast

develop and axillary hair ) , Neurocutanous

marking

Breast development in boys

(obesity/kleinfelter).

5. Complete examination by:

- Need to plot MPC.

- CVS/fundoscopy/arm span Vs height……marfan.

- Proximal myopathy /Reflexes …….thyroid.

- Development /fundoscopy ……homocystinuria

- Genitalia/pubertal staging ……klinfelter.

- Skin …. Hyperpigmentation , café – au-spot

Discussion

What investigation?

Bone age

Karyotype

Thyroid function

Then according to examination finding.

Interpretation of measurement :

- Upper segment/lower segment ratio :

Normal values :

In normal person (upper segment / lower segment) ratio


Birth ………………1.7

3years …………….1.3

8yr or more ……… 1

Decrease ( i.e lower limbs disproportionately long)

:marfanoid or eunuchoid body habitus.

Normal ratio : familial or pituitary gigantism.

- Arm span :

Normal values :

in normal person (arm span minus height)

o birth – 7years ( -3)

o 8 – 12 years (0)

o 14 years (+1)

Long arm span either :

marfonoid or eunuchoid ( arm span/height more

than 1.05)

short trunk as complications of kyphosis or scolosis.


Marfan syndrome

Task: look at this child and tell me what you observe.


Dysmorphic features : marfanoid feature

- Long thin face ,high arched palate , dental crowding.

Growth parameters " measurements" :(height , weight , head

circumference)

- Tall for family size

- Lower segment is longer than upper segment :


o Birth ………………1.7

o 3years …………….1.3

o 8yr or more ……… 1

- arm span is greater than height.:



o 8 – 12 years (0)

o 14 years (+1)

2. Arms :" maneouvers

Arachnodactyly : long slender fingers. It confirm by :

Sternberg sign : thumb adducts through palm. (If exceed this

+ve.).

Wrist sign : ask pt to encircle wrist with thumb and little

finger.( If overlap this +ve sign.).

Ligamentous laxity :

Opposition of the thumb onto flexor surface of

forearm.(2points)


sign"(2points)


can place palms on the floor when the legs are

straight.(1points).

Hyperextension of knee (2points).

Pulse: collapsing pulse.

BP: increase .


3. Head and neck:

Mouth: high arched palate , dental crowding

Eyes: lens dislocation up and out./ myopia / heterochromia iridis with

blue sclera.

4. Chest:

Pectus exacavatum/carinatum

Surgical scar as result cardiac repair or chest tube scar "

pneumothorax ".

Aortic root dilation : heave/thrill , apex beat character ,diastolic

murmur.

Mitral valve prolapsed : late systolic murmur.

5. Back:

Scoliosis .

Kyphosis.

Ligamentous laxity.(see above)

6. Lower limb:

Pes planus

Ligamentous laxity (see above).


- Plot his height in growth chart appropriate for her age and sex.

- And plot his mid-parental height on a centile chart.

- Perform CVS if not done.

N.B: And if a person has the Sternberg sign + Walker-Murdoch

sign(wrist) + hypermobility, the chances are close to 90% that the

person has Marfan syndrome.

Differentiating between homocystinuria and marfan

Marfan Homocystinuria

Inheritance Autosomal dominant- ch 15 Autosomal recessive

Marfanoid features Appears since birth. Appears later.

Joints Hyperextensible Contractures

Lens dislocation Up and out Down and in

Facies Long Ruddy

Intelligence Normal Below average

Cardiac Aortic root dilatation Mitral valve prolapsed.

Normal

Haematology Platelate dysfunction Thromboembolic disease

Bones Normal Osteoporosis

Urine Normal Excessive homocystine

Lower limb Pes planus -Pes cavum.


Genu recuvartum. -Genu valgum.

Complications -Aortic dissection / regurgitation. -kyphoscoliosis , hernia -pnumothorax - pulmonary embolism.

-FTT. -developmental delay. -scolosis , hernia. -Mental retardation -psychiatric disease -seizure/optic atrophy/ HTN/Cor pulmonale.

What is the cardiac problem in marfan ?

- Aortic incompetence .

- aortic aneurysm.

- Mitral valve prolapsed and regurgitation.

What are Causes of sudden chest pain for pt. with marfan ?

- Rupture or dissection of aortic aneurysm.

- Pneumothorax.

- Pulmonary embolism.

What are eye problem in marfan?

- Lens subluxation.

- Myopia.


- Glaucoma , cataract.

How you follow pt with marfan syndrome?

- Yearly echocardiograms to compare their aortic root dimensions

against centile chart.

- Regular ophthalmologic assessment.(for retinal detachment ,

glaucoma , cataract ).

- Monitor BP.

CRITERIA TO DIAGNOSE MARFAN :

1. Major :

- Skeletal :

Pectus craniutum

Reduce upper to lower ratio or arm span greater than

height.

Wrist sign

Elbow extension less than 170.

Scolosis.


Pes planus

- Eye : Ectopia lentis.

- Cardiac :

Aortic dilation.

Aortic Disection

2. Minor :

- Pectus exacavatum

- Joint hpermobilty

- High arch palate

- Over crowded teeth.

- Cardiac : mitral valve prolapsed

- Pneumothorax .

Management plan:

Multidisplenary:

- Pediatrician as team leader.

- opthalmologist

- cardiologist

- dentist.

- Orthopedic surgeon .


Marfan syndrome

Task: look at this child and tell me what you observe.


Dysmorphic features : marfanoid feature

- Long thin face ,high arched palate , dental crowding.

Growth parameters " measurements" :(height , weight , head

circumference)

- Tall for family size

- Lower segment is longer than upper segment :


o Birth ………………1.7

o 3years …………….1.3

o 8yr or more ……… 1

- arm span is greater than height.:



o 8 – 12 years (0)

o 14 years (+1)

9. Arms :" maneouvers

Arachnodactyly : long slender fingers. It confirm by :

Sternberg sign : thumb adducts through palm. (If exceed this

+ve.).

Wrist sign : ask pt to encircle wrist with thumb and little

finger.( If overlap this +ve sign.).

Ligamentous laxity :

Opposition of the thumb onto flexor surface of

forearm.(2points)


sign"(2points)


can place palms on the floor when the legs are

straight.(1points).

Hyperextension of knee (2points).

Pulse: collapsing pulse.

BP: increase .


10. Head and neck:

Mouth: high arched palate , dental crowding

Eyes: lens dislocation up and out./ myopia / heterochromia iridis with

blue sclera.

11. Chest:

Pectus exacavatum/carinatum

Surgical scar as result cardiac repair or chest tube scar "

pneumothorax ".

Aortic root dilation : heave/thrill , apex beat character ,diastolic

murmur.

Mitral valve prolapsed : late systolic murmur.

12. Back:

Scoliosis .

Kyphosis.

Ligamentous laxity.(see above)

13. Lower limb:

Pes planus

Ligamentous laxity (see above).


- Plot his height in growth chart appropriate for her age and sex.

- And plot his mid-parental height on a centile chart.

- Perform CVS if not done.

N.B: And if a person has the Sternberg sign + Walker-Murdoch

sign(wrist) + hypermobility, the chances are close to 90% that the

person has Marfan syndrome.

Differentiating between homocystinuria and marfan

Marfan Homocystinuria

Inheritance Autosomal dominant- ch 15 Autosomal recessive

Marfanoid features Appears since birth. Appears later.

Joints Hyperextensible Contractures

Lens dislocation Up and out Down and in

Facies Long Ruddy

Intelligence Normal Below average

Cardiac Aortic root dilatation Mitral valve prolapsed.

Normal

Haematology Platelate dysfunction Thromboembolic disease

Bones Normal Osteoporosis

Urine Normal Excessive homocystine

Lower limb Pes planus -Pes cavum.


Genu recuvartum. -Genu valgum.

Complications -Aortic dissection / regurgitation. -kyphoscoliosis , hernia -pnumothorax - pulmonary embolism.

-FTT. -developmental delay. -scolosis , hernia. -Mental retardation -psychiatric disease -seizure/optic atrophy/ HTN/Cor pulmonale.

What is the cardiac problem in marfan ?

- Aortic incompetence .

- aortic aneurysm.

- Mitral valve prolapsed and regurgitation.

What are Causes of sudden chest pain for pt. with marfan ?

- Rupture or dissection of aortic aneurysm.

- Pneumothorax.

- Pulmonary embolism.

What are eye problem in marfan?

- Lens subluxation.

- Myopia.


- Glaucoma , cataract.

How you follow pt with marfan syndrome?

- Yearly echocardiograms to compare their aortic root dimensions

against centile chart.

- Regular ophthalmologic assessment.(for retinal detachment ,

glaucoma , cataract ).

- Monitor BP.

CRITERIA TO DIAGNOSE MARFAN :

3. Major :

- Skeletal :

Pectus craniutum

Reduce upper to lower ratio or arm span greater than

height.

Wrist sign

Elbow extension less than 170.

Scolosis.


Pes planus

- Eye : Ectopia lentis.

- Cardiac :

Aortic dilation.

Aortic Disection

4. Minor :

- Pectus exacavatum

- Joint hpermobilty

- High arch palate

- Over crowded teeth.

- Cardiac : mitral valve prolapsed

- Pneumothorax .

Management plan:

Multidisplenary:

- Pediatrician as team leader.

- opthalmologist

- cardiologist

- dentist.

- Orthopedic surgeon .


abdominal examination

A. General Approach:

1. wash ur hand.

2. introduce ur self to examiner and hello him and give him the exam paper.

3. introduce ur self both to the parents and child and take permission


B. General Inspection:

1. Equipments : e.g N-G /gastrostomy tubes , iv canula .

2. Status : ill or well/race

3. Growth parameter & Nutrition status.

4. Abnormal features:

- Syndromic ……allagile syndrome.

- Frontal bossing ,Maxillary Hyper-plasia ….b-thalathaemia.

- Doll like (full cheecks) ……glycogen storage disease.

- Coarse features ……..mucopolysachradosis.

C. Hand (3 things):

- Clubbing of fingers.(signs of IBD , CF , cirrhosis , ch malabsorption)

- Stigmata of chronic liver disease :( Palmer Erythema /

leuconychia/clubbing)

- Signs of iron def. anaemia (Nails ): (pallor , koilonychia.)

D. Head and neck :

eyes for:

- Pallor .

- Jaundice .

mouth : (5 things)

- Tongue : stomatitis , macroglossia.

- Teeth : dental caries at the back ……GERD.

- Oral (lips)Hyper-pigmentation ……. peutz – jeghers.

- Ulcer ……………………………………………crohn's disease.

- Gum hypertrophy

neck : palpate for lymph nodes (virchow's node …GI malignancy)

E. Chest 2 ( stigmata of chronic liver diseases):

- Gynaecomastia .

- Spider Naevi (following distribution of aorta).

F. ABDOMINAL EXAMINATION:

1. Inspection ( 5 things )

i. Contour for asymmetry and distension (5 fs).

ii. Dilated Veins : caput medusa.


iii. Visible peristalsis.

iv. Hernial orifices: umbilical hernia

v. Scars ( measure , describe shape and position):

1. Kocher incision ( right subcostal incision):

Biliary surgery : Cholecystectomy /gallstone removal

Extended rt subcostal incision / Mercedes scar :for Hepatic

surgery ( Liver transplantation )

2. Upper midline incision :

Nissens fundoplication for GERD (ass with gastrostomy).

Lower long midline laporatomy(major abd surgery)

3. Transeverse Lt. upper abd. Incision:

Repair of diaphragmtic hernia

Splenic surgery (left subcostal incision).

4. RT upper transverse (Ramstedt's pyloromytomy ): treatment of

pyloric stenosis

5. RT iliac fossa scar (Grid-iron incision) : appendicectomy.

6. Umbilical / subumbilical scars.

Hernia repair

Gastroschisis / exomphalus

Desferoxamine marks @ umbilicus.

7. Point incision scars:

Laproscopic scar(small and multiple)

Drain scar

VP shunt wound.

8. Inguinal incision scars (Hernia repair ,Vascular acess)

9. Lateral Thoracolumbar scar : Renal surgery (nephrectomy).

10. Hockey – stick scar

N.b: laparotomy scar:

- in cystic fibrosis:

meconium ileus repair / Meconium ileus equivalent …..RT iliac fossa

scar.

Stricture of colon ( as side effect of pancreatic enzymes).

Appendsctomy scar.

- in down syndrome:

Duodenal atresia : laparotomy scar only.

Hirschsprung's disease : laparotomy + colostomy scar.

2. Palpation :

- ask about pain before start.

- start palpation away from painful area./start from RIF.


- lean down

- Looking to face of pt during palpation.

a. Superficial Palpation for ( Tenderness / Calming the Pt.).

b. Deep Palpation for : mass e.g Rt. iliac fossa mass.

c. organ palpation for : (Liver / Spleen / kidneys )

if hepatomegaly or splenomegaly Check for :

- Dull on percussion and You Can't get above it

- size ( by measuring with tape)

- Tenderness,

- Edge : regular /irregular.

- Surface : smooth / nodular.

- Consistency : firm / hard.

3. Percussion : unless there is abdominal distension

- Liver span

- If Ascites :

Fluid thrills

Shifting dullness : ideally need 1min waiting , but in exam you can do it

for 1/2 mint. Only.

4. Auscultation :

- Bowel sounds

- Renal Bruits for renal artery stenosis. ( 2-5 cm lateral to umbilicus)

- Liver / spleen bruit.

G. Inorder to continue examine :

- Back : for nephroectomy scar.

- Lower limb: for oedema.

H. To complete examination say I would like to Examine (but don't do it)

- Plot height and weight on growth chart appropriate for age and sex.

- Genitalia .

- PR / Anus : anal tag and fistula (grohn's disease )

- Lymph-Nodes .

- Tanner staging … Full pubertal assessment

- ask pt to stand :

and ask him to cough looking for hernia orifice.

looking to the buttocks (wasted suggested malabsorption).

How you can differentiate between liver/spleen and kidney:

Liver Spleen Kidney

Right hypochondrum Left hypochondrium Lt/rt lion area

Cannot go above it Cannot go above it Can go above it


Move e respiration Move e respiration Not Move e respiration

Dull on percussion Dull on percussion resonant

Has left lobe Has notch Ballotable

Assessment of nutritional status

General :

- NGT or gastrostomy tube /central line for TPN.

- Bruises on shins , arms and trunk.

- Small for his age / loss of subcutaneous fat.

Hands:

- Pallor / Koilonychias

Hair :

- Thining /Alopecia.

Mouth :

- Ulcers ./Cheilitis./ teeth

To complete examination by :

- Plot height , weight , and HC

- Triceps and sub scapular skin fold thickness for s/c fat mass.

- Mid upper arm circumference for muscle bulk.

How would you assess nutritional status ?

1. Dietary assessment

2. Anthropometry :

Height

Weight

Triceps skin fold thickness indicator for s/c fat stores.

Mid upper arm circumference for muscle bulk.

3. Laboratory investigations :

S.electrolytes , low S.albumin , low vitamins and minerals.

immunodeficiency ( low lymphocytes count and impaire cell

mediated immunity).


Causes Hepatomegaly Splenomegaly Hepatosplenomegaly

1. Infection :

- Malaria - CMV – EBV - Hepatitis B - Glandular fever

2. Tumors :

- 1ry liver - 2ry:lymphoma,leukaemia, neuroblastoma - Myeloprorflative disease

3. Storage disease

- Cystic fibrosis - Glycogen storage

- Nieman pick - Gaucher's disease. - TPN - Mucopolysacriodosis

4. Obstructive

- Biliary atresia - Heart failure - Hepatic vein thrombosis - Portal HTN

5. Others /metabolic

- Wilson - Alfa antitrypsin def.

- Tyrosnaemia - Cong.hepatic fibrosis - Hereditary fructose intolerance

6. Chronic haemolytic anaemia

- Thalassaemia

- Sickle cell anaemia - Spheriocytosis

7. ITP

8. Autoimmune disease

- JIA - SLE


Sickel Cell Anaemia(A.R—Ch-11)

1. introduction and clues:

- Afro-carabian origin

2. general inspections :

- status : well.

- Growth : Small for age.

- Dysmorphism : No dysmorphic features.

3. Hands :

- multiple canullation scars , no signs liver disease. No signs of dactilitis

4. Eyes : Pallor /jaundice.

5. Chest : no stigmata of ch. Liver disease , RD.

6. Abdominal exam.:

- Inspection : scars (cholecystectomy)

- Palpation :

splenomegally (if > 5years)/no spleen if older than 5 yrs.

+/- hepatomegaly .

7. Inorder to continue :

- MSK : leg ulcer , a vascular necrosis of femoral

8. I want to complete examination by :

- Plot in appropriate growth chart.

- Pubertal assessment

- CNS : stroke / cranial nerves.

- Chest : for chest infection , signs of heart failure

- Eye : retinopathy.

Discussion

Dd of pallor + jaundice : chronic haemolytic anaemia

- Sickle cell anaemia

- B-thalathaemia major.

- Sickle-thalathaemia

- spherocytosis

What is sickle cell anaemia?

- It is chronic haemolytic anaemia caused by point mutation in position 6 of the

beta- globin chain ( substituate of valine for glutamine ).


- In deoxygenated state leading to distort red cell membrane forming

irreversible sickle shape which trapped in microcirculation and causes

ischemia. This excacerbated by cold , dehydration , and hypoxia.

- It present after 6 month of age when Hb switch from HbF to HbA

- Protection against malaria.

What are problems of sickle cell disease?

1. chronic haemolysis :

o Chronic anaemia

o Jaundice

2. Acute haemolytic crisis :

o Aplastic crises1 : 2ry to parvovirus 19 infection causing marrow failure.

o Splenic sequestration crisis2:

Blood pools in the spleen causing circulatory collapse ass with

haemolysis

Need life saving transfusion

3. vaso – oculsion (sickle crisis ): involve the following 5 :

o Recurrent acute pain (painfull crisis3)

Abdominal pain / bone pain

Dactylitis ( hand/foot syndrome)

Triggers include :infection , dehydration , exposure to cold

Treatment: warmth , hydration , oxygen , analgesia and antibiotics.

o Functional asplenia :

If have splenomegaly or autosplenectomy

At 1 year of age.

At risk of overwhelming infections from encapsulated organism

(pneumococus and haemophilus influnzae) , and salmonella

osteomyelitis.

Treatment : full immunization , prophylactic pencillin

o Acute chest syndrome : (life threatening).

Lung infarction +/- infection lead to circulatory compromise and chest

pain

Treat : oxygen , pain relief , warmth , hydration , iv antibiotic

,physiotherapy and transfusion

o Stroke :

Present with hemiplegia and cranial nerve involvement.

Need urgent exchange transfusion.

o Others :

Priapism

Avascular necrosis of femoral head.


What are long terms complications?

o Delayed growth and sexual maturation.

o Leg ulcers

o Retinopathy lead to blindness.

o Cardiomegaly…….heart failure.

o Cholelithiasis : cholecystectomy required

o renal impairment…….Papillary necrosis.

o Stroke

What are causes of abdominal pain in sickle cell disease?

o Gall stone

o Vasoculsive crises.

o Sequestration crises

o Lower lobe pneumonia.

o Sickle hepatopathy.

Diagnosis:

- Antenatally via chorionic villus biobsy.

- CBC : low Hb.

- PBP : sickled cells - target cells – poikilocytes .

- Electrophoresis : shows more than 80% HbS.

Manegment:- MDT

1. Warm

2. Hydration

3. Anagelsia.

4. Iv antibiotic for infection , prophlaxisis penicillin.

5. Blood transfusion indicated in :

Aplastic crises

Sequestration crises.

6. Exchange transfusion in :

Strock

Acute chest syndrome

Pripism.

7. Folic acid .

8. Hydroxyurea:-

Hb-A ⤍ Hb-F. + ⬆RBC hydration+⬆Nitric Oxide.

9. B.M.T ….. curable

10. genetic counseling.

11. Immunization .


12. management of autosplenectomy (functional asplenia)- prophylaxis:

Warming , hydration

iv antibiotic if acute infection , Penicillin prophylaxis

Folic Acid daily.

Immunization ( Peneumococcal: Cong /Un cong + H. influenzae-B.

+ Meningecoccal)

13. management of vasoclusive crises (acute crisis )

Admit , warmth , oxygen ,Hydration ,

iv analgesia , iv antibiotic.

Blood transfusion. (in haemolytic crises).

exchange transfusion is indicated in :

acute chest syndrome

stroke

priapism

Nb: HbSC (sickle cell –thalassaemia ) milder variant and can present with

- splenomegaly after 5 years of age

- moderately anaemia

- vaso – occlusive (less frequent).

- aspectic necrosis of femoral head.(common)

Causes of splenomegally

1. Infection (Malaria /kalazar / C.M.V. / Typhoid F./septicaemia)

2. tumour : Lymphoma / Leukemia.

3. storage :Gaucher's D., nieman-pick , mucopolysacchardosis

4. obstructive:( Portal H.T.N.,Cirrhosis ,Cardiac failure.)

5. Ch. Hemolytic Anemia (H. Spherocytoses , earlySickle Cell Disease

,thalassaemia.)

6. autoimmune disease (JIA /SLE).

7. others: (Chronic I.T.P./ Myeloproliferative Disease)


B.Thalassaemia (A.R—Ch-11)

1. Introduction and clues:

- H/O recurrent Blood Transfusion.

- Asian origin .

2.General inspection:

- Position , comfortable or not (may be heart failure)

- Small for age / Pallor.

- Rodent Face( maxillary overgrowth- frontal Bossing-big wide space teeth) .

3/hands:

- Canullation scars

- Pallor

- Signs of Chronic liver disease

4/eyes :

- jaundice / pallor.

5/ face:

- frontal bossing.

- malar hyperplasia.

6/chest :

- port – a- cath

- CVS : for anaemic heart failure.

7/Abdomen:

- distended abdomen.

- Desferoxamine marks : Peri-umbilical- patches of depigmentations

- Scar of Splenectomy ., laproscopic scar for cholesesctomy or splenoectomy.

- Hepato-splenomegally ,(or splenomegaly) or

- hepatomegaly with splenectomy scar

- Ascites.

- Back : for scar and oedema.

8/ to complete examination :

- plot growth chart.


- examine for gentilia.

- Tanner staging.

- Looking for complication of the disease : neck (thyroid) , DM injection site of

insulin , bone for long bone fractures.

- Lower limb for oedema.

Discussion

Causes of Hepato-splenomegally(as general):

1. Myeloproliferative Disease.

2. Muco-Poly-Saccharidoses.

3. α Anti Trypsin deficiency.

4. chronic haemolytic causes : Thalassaemia , sickle cell anaemia , G6PD ,

SPHEROCYTOSIS.

5. Cystic Fibrosis.

6. Infection (Malaria / C.M.V. / Typhoid F.)

7. storage disease.

8. Portal H.T.N.(Congenital Liver Fibrosis-- A.R.).

DD OF CHRONIC HAEMOLYTIC ANAEMIA:

- B-thalassaemia.

- Sickle cell thalassaemia .

- Early Sickle cell disease.

- Spherocytosis.

- G6PD.

What are causes of hepatomegaly in b-thalathaemia?

- Extra-medullary haemoposis.

- Anaemic heart failure.

- Infection from frequent transfusion (hepatitis B /C).

What is mode of inheritance and problem b.thalamia?

- AR / CH 11

- Deficient synthesis of either alpha or beta chain of haemoglobin.

- Present with progressive haemolytic anaemia during the 2nd 6 months of life.

What investigation ?

- can be diagnosed antenatally or on neonatal screening.

- CBC showing : microcytic hypochromic


- PBP showing : Poikilocytes , Target cells ,Nucleated red cells

- Electrophoresis : Increase in Hb F 90%. , No Hb A. ,normal Hb A2.

- Genetic test.

- Ferretin level.

- Thyroid function test. TFT.(as baseline)./ rbs

- Bilirubin level .

- Urinanylsis.

- Skull x-ray showing hair on end appearance due to widening of diploic space.

What is management plan?

1. hyper-transfusion regime : regular transfusion using leukocyte – depletion

blood (monthly ) to maintain Hb above 10 g/dl. we will transfused :

if Hb less than 6 - 7 g/dl.

Cardiac compromise related to anaemia.

2. chelating therapy (with vit. C 200mg daily to enhance effect) : increase

urinary excretion of iron. 20mg/kg/day. commence when :

ferritin reached 800 – 1000 micrgram/l .

or after 12-15 transfusion.

3. folic acid supplementation 5mg daily.

4. splenectomy : reduce transfusion requirement.

5. bone – marrow transplantation : curative.

6. gene therapy had limited success to date.

7. Genetic counseling.

Types and Side effects of chelation agents :

1. Desferroxamine " desferal" : ( 5 nights/week – central line /S.C. infusion

over 8-12h ):

- Acute side effects : local : Pain , Induration , Fever , Flushing , Tachycardia ,

hypotention

- Chronic side effects :

Predisposition to Yersinia Infection.

Night Blindness , cataract , blurred vision.(slit lamb before use)

Deafness : sensorineural (audiometery before use)

Acute respiratory distress syndrome

Oesteoprosis.(skeletal survey before use)

Leucopenia and thrombocytopenia (cbc before use)

Contra indications of desforexamine agents : renal impairement

because it's secretion by kidney (check renal function before use)

2. Deferiprone "ferriprox " (tab –daily) : effective in cardiac sidrosis.


S.E. :

- GIT upset.

- Neutropenia , thrombocytopenia.

- Arthropathy

- Teratogenicity.

3. deferasirox (tab daily) effective in liver and heart sidorosis.

How u montoring iron chelating agent?

- Serum iron and ferritin level every 3-6month

- Liver function 6monthly.

What are the complications of B-thalasthemia?

a. Complication of the disease:

- Hepato splenmegaly

- Expansion of skull and face causing characteristic facies.

- Pathological fractures

- Impaired growth and delay puberty.

b. Complication of treatment :

i. Complication of frequent transfusion :

Antibody formation , either red cell or HLA antibodies.

Transmission of hepatitis B , C and HIV.

Iron over load.:

Cardiac failure , arrythamia

Diabetes mellitus

Liver cirrhosis.

Hypothyroidism , hypoparathyroidism , hypopituitarism.

Skin hyperpigmentation. (bronze skin)

Testicular deposition

Joint causing artheritis

ii. Complications of chelating agents :

Yersenia infection

Night blindness

Hearing effect

Arthropathy

Leucopenia and thrombocytopenia

iii. Complication of splenectomy:

Recurrent infection.(bacterial sepsis).


Indication of splenectomy as general :

- ITP

- hypersplensim

- Trauma e massive bleeding.

- Following spont. Rupture.

- For long treatment of cong. Erythropiotic porpheria , pyurvate kinase def.

- Diagnosis of certain lymphoma.

- Wandering spleen (pelvic spleen).

Indication of Splenectomy (in b-thalathaemia):-

1. Hypersplenism with pancytopenia.

2. Blood T. > 240 ml /Kg / year.

3. Splenomegaly to degree that cause respiratory distress.

4. Growth Failure .

5. Haematocrit > 75%

What are risks of splenectomy ?

- Influenza , pneumococus , menigococus

What is the precausion for splenectomy ?

- Pencilline long life

- Vaccinations against : pneumococus / Hib/ Meningococcus.

What is land mark to measure liver size from costal margin?

- Is midclavicular line.

WHY When surgeon do cholecystectomy in thalathamic pt. , he will do prophylaxis

appendicectomy at the same time?

- because one of complication of desferoxamine is yersina infection which is

common organism causing appendicitis.

Indication for more frequent transfusion :

- Hypersplenism

- RBC-Antibody formation

- Concurrent blood loss.

Dd of hepatosplenomegaly :


1. infections : Hepatitis B ,C , EBV ,CMV, rubella , HIV, TB, malaria ,

schistosomiasis , leishmania.

2. no jaundice and with neurological problem :

storage disease .

gaucher disease.

Gangliocydosis

Niman pick

3. no jaundice and with skeletal problem , coarse facial features: MPS

4. with joint pain and skin rash : JIA ,SLE ,leukaemia , lymphoma.

5. With recuurent infection: chronic granulomatous disease , chediack hegashi

syndrome.


Glycogen Storage Disease type 1

1. General inspections:

- Equipments : bruises ± N.G.T.

- growth : Small for Age/ FTT.

- Conscious level / abnormal movement.

- Doll like Face. /well looking (no dysmorphic features).

2. Hands : no clubbing or stigmata of liver disease.

3. Eyes : no jaundice or pallor.

4. Chest :

no stigmata of chronic liver disease.

Porta cath if taking enzyme replacement.

5. Abdominal examinations :

- Inspection :

Protuberant abdomen.

Small scar (for liver biobsy).

- Palpation :

Hepatomegally.(smooth – huge ).

Nephromegally.

6. In order to continue :

Back examination .

Lower limb for oedema.


- Plot pt. on growth chart.

- Genitalia.

- Skin : for brusis (due to platelet dysfunction) , xanthomata (hyperchostrelmia

).

- Resp. system (for distress due to hypotonia).

- CVS for cardiomyopathy.

- CNS for hypotonia.

- Vital signs : fever (infection- neutropenia).BP (due to renal complication)

Discussion

What question you want to ask to parents ?

- HX of Problems with low blood sugar .

- Hx of Recurrent Infection.

What is the Bedside test ?


- check R.B.S.

What is von Gierk disease?

- Glycogen storage disease type 1A.

- Glucagon activate liver to convert stored glycogen to glucose.(no action of

it in GSD) so not effective in hypoglycaemia.

What is the mode of inheritance?

- AR

- G-6- phosphatase dehydrogenase def. prevent converting of glycogen to

glucose.

What is main problems and complications?

- Hypoglycaemia : Presents within 6 months with hypoglycaemia( + lactic

acidosis) or asymptomatic hepatomegaly. (Fasting hypoglycaemia with no

response to glucagon.)

- Renal calculi.

- hepatoma.

- Platelet dysfunction.

- Reduced intellectual development.

What is Investigation?

- CBC : platelet dysfunction . neutropenia and leukocyte defect (in type 1b )

- Fall in Blood lactate : from high fasting level to normal during GTT.

- High urate and triglyceride .

- Abdominal U/S looking for renal stone and hepatoma.

- Liver biopsy (definitive diagnosis )⤍ defect in G.6.Phosphatase activity.

- Genotyping.

What is the Management of type 1?

1. Prevent Hypoglycemia by provide corn starch , overnight N-G tube or IV

dextrose , And frequent feeds when unwell.

2. inform parents about easily bruising and nose bleed.(platelet dysfunction).

3. treatment of recurrent infection because of Leucocytes defect in type B.

4. F/Up : for complications

- Renal complications :

Hyperuricaemia (urate stone) , prevent by allopurinol.

Focal glomerulosclerosis.


- Hyperlipidemia lead to CVS disease in later life.

- Malignancy (heptoma)

What others types of glycogen storage disease?

- Type 1B (type 1A + Neutropenia ) :

glucose 6 phosphate translocase.

Impaired phagocytosis + neutropenia

Recurrent infections – poorer prognosis.

- Type 2 (pomp's disease): hypoglycaemia , hypotonia , hepatomegaly ,

cardiomyopathy.(poor prognosis ).

- Type 3 (cori's): involve both liver and muscle lead to:

o Massive hepatomegaly

o Myopathy

o Developmental delay

o cardiomyopathy

o liver cirrhosis.

- Type 4 : involve both liver and muscle :

o Hepatomegaly , ascites , and portal HTN , cirhosis

- Type 5 (Mc ardel's) affect muscle only , poor prognosis.

Types affect both liver and muscles : 3 , 4.

Types only affect muscle 5

Causes of Hepatomegally

1. Infection : (Malaria /C.M.V./ Hepatitis B.)

2. tumour : (very large liver)

1ry liver tumour

2ry tumours : lymphoma , leukaemia , neuroplastoma

3. storage disorder ( v.large liver)


Cystic Fibrosis. ( + jaundice ).

Gaucher's

Glycogen storage disorder (1,3,4,6).

Nieman –pick

TPN (+ jaundice).

Malnutrition/obesity.

4. obstructive

Heart Failure.( v. large liver)

Hepatic vein thrombosis.

Biliary atresia

5. others : (W-A-T-C-H)

Wilson's Disease

α 1 Antitrypsin Deficiency.( + jaundice).

Tyrosnemia

Congenital hepatic fibrosis. ( + jaundice)

Hereditry fructose intolerance


Extra –hepatic biliary atresia can present with :

1. kasai operation scars , or liver transplantation scar.

2. can present with portal HTN + splenomegaly.

3. can present with liver cirrhosis (shrunked liver) or hepatomegaly.

approach to extra-hepatic biliary atresia

1. general:

- equipments

- status : well..unwell, scratch mark .

- growth : small for age .

- dysmorphic feature

2. hands :

- +/-stigmata of chronic liver disease ( palmar erythema).

- Clubbing.

3. eyes :

- jaundice , pallor.

4. chest: +/- stigmata of liver disease

- spider naevi .

- gyncomastia.

5. abdomen:

- inspection:

scars:

o Of kasai procedure (hepato porto – enterostomy).

o Of liver transplantation scar

Dilaited veins "Caput medusa".

Abd. Distension (ascites , spleen)

- Palpation

Liver may be palpable./or shrunk

splenomegaly

- Percussion: To confirm ascites

- Auscultations : for bowel

Inorder to continue examination :

- Examining the back for sacral oedema /

To complete examination :

- Plot her in appropriate centile chart

- Hernia orifices.

- Examining genitalia and do PR examination.


- Assessment of nutritional status.

- Check urine and stool " for bilirubin"

Discussion

What investigation for extrahepatic biliary atresia?

- LFT /CBC/S.E

- U/S abd…for ascites and organomegally.

- Hida scan (hepatobiliary imino diacetic acid scan) HIDA scan uses a

radioactive chemical or tracer that helps highlight certain organs on the scan.

….dignostic test

- Liver biobsy.

What is treatment EHBA ?

- Early " within first 8 wks of life" Kasai operation (hepato porto –

enterostomy).

- Late : Liver transplantation.

What is the outcome of kasai operation?

- 1/3 go to chronic liver disease.

- 1/3 failure "require liver transplantation".

- 1/3 curable.

What is the management of cirrhosis?

MDT headed by paediatric hepatologist

- treat the cause

- dietien :adequate protein , and fatty acids ,high carbohydrate diet ,vitamins

and minerals , feed may be provided with nasogastric or parental feeds.

- Restricting salt intake and/or diuretics to prevent ascites.

- Treatment of complications ( emergencies):

1. GIT bleeding :

Admit (even if small)., iv line , cross match.

IV vasopressin / octerotide.

Sclerotherapy / Variceal ligation

Portosystemic shunts.

2. bacterial peritonitis : Education, Antibiotic.

3. hepatic encephalopathy:

Aim : Prevent accumulation of ammonia

Reduce protein intake

Oral antibiotic (neomycin)


Lactulose to remove waste product through stool

IVF dextrose.

4. Hepato renal failure : require liver transplantation.

What indications of liver transplantation?

- Extra hepatic biliry atresia (common cause)

- End stage liver disease

- Recurrent serious or life threatening complication of liver disease (bleeding

varices , gross encephalopathy , persistant severe ascites.)

- Hepatoma

- Metabolic disorder : Alfa 1 antitrypsin , Galactoceamia , Wilson disease.

What are Complications of transplantation?

- Acute rejection 50% - 60%

- Sepsis

- Biliary leaks 20%

- Complication of immunosuppresion .

What is Prognosis of transplantation ?

- 1 year survival ……90%

- 5 year survival ……..75%

Causes of liver cirrhosis as general : (cirrhotic liver is usually small except in cystic

fibrosis )

1. BILIARY TRACT DISORDERS :

Biliary atresia.

o Intrahepatic biliary atresia (syndromic and non syndromic)

Allagille's syndrome (charecterstic faces ,pulmonary stenosis ,

cholestasic jaundice , vertebral arch defects , hypoglycaemia).

Byler syndrome

o Extrahepatic biliary atresia

Choledocal cyst

Cong. Hepatic fibrosis

Cystic fibrosis

Sclerosing cholangitis

2. metabolic causes :

Wilson's disease

Alfa 1 antitrypsin def.( cholestasis , cirrhosis ,chronic obstructive pulmonary

disease)


Galactosemia.

Tyrosenmia.

Cystic disease

Hereditary fructose intolerance

Glycogen storage

3. infection

Hepatitis B /C.

CMV

4. others :

Alcohol.

TPN.

Autoimmune.

complications of cirrhosis:

GIT :

- portal HTN.

- ascites with 2ry bacterial peritonitis

- hepatoma

- gall stone formation

- hepatic encephalopathy

- bleeding diathesis

RS : pulmonary htn

RENAL : renal failure

ENDOCRINE CHANGES

GENERAL :

- increase susceptility to infection

- malnutrition

- impaired neurodevelopment


Interpretation of caput medasae flow :

- In case of portal hypertension (liver cirrhosis)

Above umbilicus : away from umbilicus

Below umbilicus : away from umbilicus

- In case superior venae caval obstruction: downward :

Above umbilicus : toward umbilicus


- In inferior venae caval obstruction : upward

Above umbilicus : away from umbilicus.

Below umbilicus : toward umbilicus


ALAGILE SYNDROME

General :

- Dysmorphic : prominent forehead , deep set eyes , upward sloping

palpebral fissures , prominent nasal bridge , and pointed chin.

- Abdomen :

Scar of liver biopsy.

Hepatomegaly

- Other :

Growth chart

Cvs : murmur of pulm. Stenosis.

Eyes for posterior embryotoxin in lens.

How confirm the diagnosis

- HIDA scan uptake of the isotope by liver but no excretion into the

bowel at 24 hours.

- Liver biopsy show paucity of bile ducts.

- Chromosomal analysis – AD

What is alagille syndrome ? Syndrome of

- intrahepatic bile duct hypoplasia lead to obstructive jaundice.

- Pulmonary stenosis / TOF.

- Vertebral : butterfly vertebral

TREATMENT: liver transplantation

CAUSES OF HEPATOMEGALY WITH JAUNDICE

- Biliary atresia:

Intrahepatic cholestasis :

o Syndromic : allagile syndrome


o Non- syndromic : Familiar intrahepatic cholestesis

(byler's syndrome).

Extrabiliary cholestesis.

- Choledocal cyst

- Alfa 1 antitrypsin deficiency

- Cystic fibrosis

- TPN

- Congenital hepatic fibrosis.


appraoch of portal hypertension

- general : FTT , reduce muscle bulk

- hands : +/- stigmata of liver disease (palmar erythema , )

- Eyes : Pallor , Jaundice.

- Chest : +/- stigmata of liver disease (gyncomysteia , spider naevi )

abdominal examination :

- Inspection :

Distended abdomen

Caput medusa (flow from umbilicus )

Liver transplantation scars./ kasai scar

- Palpation :

Splenomegaly(cardinal feature)

Liver small , normal or enlarge .

- Percussion :

Ascites (+ ve shifting dullness / fluid thrills).

- auscultaions

discussion

CAUSES OF PORTAL HYPERTENSION:

o Pre hepatic:

Portal vein obstruction/ thrombosis.

(normal size liver + no stigmata of liver disease)

Causes : developmental defect , cong anomalies , sepsis

o Intrahepatic

neoplasia , schistosomiasis , hepatic cyst.

cong hepatic fibrosis :(AR) : well , large hard liver , no stigmata

of liver disease (LFT preserved) , Splenomegaly , Polycytic

kidneys.

cirrhosis (small liver) , biliary atresia ,neonatal hepatitis , alpha

1 antitrypsin def.

veno – occlusive disease.


o Post hepatic

Budd-chiari syndrome (hepatic vein obstruction) (liver enlarge)

Rt ventricular failure

Constrictive pericarditis.

What are main problems of portal HTN ?

- Portosystemic shunts ( oesophageal varices , internal haemorrhoids /

encephalopathy).

- Hypersplensim lead to pancytopenia.

What is cause of ascites ?

Combination of hypoalbuminaemia , sodium retention , and impaired renal function.

What are investigations of portal htn?

How can we manage ascites ?

- Salt and water restriction + diuretics for mild ascites.

- Albumin infusion + diuretics

- Paracentesis may be required if compromising ventilation.

- Peritoneovenous shunts may be used for refractory ascites.

Interpretation of caput medasae flow :

- In case of portal hypertension (liver cirrhosis)

Above umbilicus : away from umbilicus


- In case superior venae caval obstruction: downward :

Above umbilicus : toward umbilicus


- In inferior venae caval obstruction : upward

Above umbilicus : away from umbilicus.

Below umbilicus : toward umbilicus


PGALS EXAMINATION

Approach to PGALS examinations:

A. General Approach:

1. wash ur hand.

2. introduce ur self to examiner and hello him and give him the

exam paper and listen to your task.

3. introduce ur self both to the parents and child and take

permission


B. Screening Question in PGALS.:

1. do you have any pain or stiffness in your back ,muscle , or

joints any where?

2. do you have any difficulty in Dressing/Up or down

stairs/Writing?

C. General Observation.( inspection): after good exposure

- Equipments : wheel chair , traction , plaster cast

- Growth parameters : thriving.


- Look for : muscle bulk , Abnormal Posture , Limb

deformity/joint swelling , rashes and scars and nails .( before

any examination)

D. upper limb : sitting position

- hold your hands out straight in front of you :

test flexion of the shoulders

test extension of elbows , wrist and fingers.

- Turn your hands over and make afist :

Test supination of elbow and wrist

Test flexion of fingers.

- Pinch your index finger and thumb together and touch tips of

your fingers:


Test dexterity , coordination and function.

- Squeeze gently the metacarpopharngeal joints :

Feel for tenderness

- Put your hand together palm to palm :

Test extension of fingers

Test extension " dorsiflexion " of wrist.

- Put your hand together back to back :

test palmar flexion of wrist.

- Reach up and touch the sky

Test shoulder abduction and elbow extension.

- Put your hand behind your neck :

Test shoulder abduction and external rotation

- Put your hand behind your back :

E. Head and neck

- look up at the ceiling : test neck extension

- put your chin in your chest : neck flexion.

- look over your shoulder : lateral rotation.

- put your ear on your shoulder : lateral flexion

- Tempro mandibular joint :

Look : asymmetry of the face

Feel : creptius in the joint.

Move : open your mouth wide and insert your 2nd , 3rd

and 4th fingers .

F. gait examination : give general look from front , side and back ,

before ask walking :

- Ask him to Walk , then

- Walk on heels , then

- Walk on tiptoe.

- Looking at foot posture , and arch of foot (pes cavus/planus/or

normal) , excessive pronation" hypermobility"

G. Back (spine ) examination :


- Ask pt to Bending forward and touch your toes : ( look from the

side and the back) for Forward flexion of thoraco lumbar spine

and scoliosis.

- Ask pt to rotate through 90.

- Ask pt. to Lateral flexion.

H. Lower limb : lying down

- look : muscle bulk , knee deformity/ contractures , skin , scar ,….

- feel : for knee effusion : patellar tap .

- move :

bend and straighten your knee (feel for creptius): for

extension and flexion of knee.

hip flexion with internal and external rotation.

PGALS SUMMARY :

- Observe the patient walking.

- ‘Walk on your heels.’

- ‘Walk on your tip-toes.’

- ‘Put your hands out in front of you.’

- ‘Turn your hand over and make a fist.’

- ‘Touch the tips of your fingers.’

- Squeeze MCPJs.

- ‘Put your hands and wrists together.’

- ‘Put your hands back to back.’

- ‘Reach up as far as you can.’

- ‘Look at the ceiling.’

- ‘Put your hands behind your neck.’

- ‘Place your ear on your shoulder.’

- ‘Open your mouth wide and place 3 fingers inside.’

- Feel for effusion at the knee.

- ‘Bring your ankle up to your bottom.’


- Passive movement of hip and knee including rotation of hip.

- Observe curvature of spine from the side and behind.

- ‘Bend forwards.’

DISCUSSION

What we mean by PGALS? It's screening passive movement test .

- PGALS : is Pediatric Gait , Arm , Legs and Spine

is a quick screening examination of the musculoskeletal system

and applicable to the school-aged child. A normal screening

examination suggests there is no significant abnormality of the

child’s musculoskeletal system. If the screening examination is

abnormal this will help you to focus your more detailed

regional examination.

When to do P.G.A.L.S.?

1. When asked to do General MSS Examination.(this child came with

Limping / Joint pain-stiffness Examine him).

2. This Pt came with (Clumsiness/difficulty to dress/climbing

stair)Examine him.

3. When asked (Examine this child Legs/Arms.)

4. When you want to complete your exam- in other system?

5. After finishing Examination of Joint and you want to check other

Joints


Rickets

Task: examine lower limb and proceed/ examine this baby e abnormal gait examine .

o General observation:

Position of child and status : well/ill. RD or not.

Equipments: wheel chairs , walking support.

growth : short for his age , FTT. , large head.

Dysmorphic features

Clues : bossing of skull , alopecia (vit d def. type 2 dependant) o Screening Qs.:

Pain anywhere ?

Ability to go upstair

Dress/undress himself. o Standing : ask pt. stand and look for :

Anteriorly for bowing of leg, any deformity or scar.

Side for bowing also may be anterior bowing

Back o Gait (if he can walk ) : ask pt. walk , then tip toe and heal walk.

waddling gait " proximal myopathy " . o Back : for kypho-scolosis , and do pending test o LL examination : Ask pt. lie down for :

Look : joint deformity , bowing of leg , skin pigmentation, scar.

feel : knee effusion

Move: knee flexion/extension-hip flexion internal and external rotation.

measure : leg discripency , upper/lower segment ratio. o In order to continue examination : looking for other signs of ricket

Hands : widening of wrist joint. Pallor due to iron def. anaemia signs of chronic liver disease.

Skull : Inspect for : Macrocephaly./ frontal bossing /alopecia./fair

hair "cystonosis" Palpate for : wide AF and suture., craniotabes .

Eye for : palor , jaundice., eye brow loss

Mouth: Dental Caries/Delay Dention.

Chest : inspect for Chest deformity : ricketic Rossary /Harrison sulcus / pigeon

chest /pectus exacavatum "Harrison groove". Porta cath for biphosphonate in case of hypophosphatmic

ricket , and for ca infusion in case of ca dependent rickets . central line in case of CRF.

Abdomen :


Inspect for distended due to hypotonia , (Scar For Pertonial Dilyasis (may be ricket as complications of CRF)

Palpate for liver and kidney

CNS : hypotonia (due myopathy). Due to hypophsophataemia . o To complete examination :

Plot his weight " small" , height " short" and HC "large" in appropriate growth chart

Upper to lower segment ratios (decrease in presence of scoliosis).

Check v/s because high BP in CRF

Development delay and pupertal assessment

R.S : due to chest infection due to hypotonia .

CVS : assess due to pulmonary HTN due to scoliosis.

Skin : hyperpigmentation

Signs of chronic liver disease , signs of malabsorption

Discussion

What is diagnosis ? case of ricket

What is rickets ?

Rickets is defective of mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D , phosphorus or calcium, potentially leading to fractures and deformity.

DD of bow leg and knock knee :

- Rickets - Physiological bow leg (resolved by 3yrs). Physiological knock knee (resolve by

7 yrs). - Physical injury : trauma , infection , tumor. - Blount's disease - Cong. Pseudoarthrosis – NF1. - Metabolic : rickets , hypophosphatasia. - Skeletal dysplasia : osteogensis imperfect. , achondroplasia metaphysea

dysplasia , endrochondromatosis ,. - Neuromuscular disorder : CP.

What are causes of ricket?

1. Vitamin D-related:- main effect of( vit D.) is increase in both phosphate and Ca. (mainly affect upper limb.)

Vitamin D deficiency.


o nutritional ricket : decrease intake / malabsorption/ lack of sun light.

o Chronic liver disease -Anticonvulsant drugs.

Vitamin D-dependent I - AR (def of Renal 1-hydroxylase deficiency)

Vitamin D- dependent II -AR (1.25 OH vit D Receptor mutation ) e alopecia.

Congenital vit. D def.

2. Hypocalcemia-related : causes are

VITAMINE D def.(see above).

Malabsorption and dietry.

Chronic renal failure.

Hypoparathyroidism.(autoimmne) o PTH low. o Increase in urinary cyclic AMP in response to IV PTH.

Pseudohypoparathyroidism (end organ resistance to PTH): o PTH levels are v.high. o Phenotype : short stature , moon face , short 4th metacarpal

bone , mental retardation. o No response to IV PTH.

N.B : Pseudo pseudo hypoparathyroidism : (Normal investigation , Same phenol typical features.).

Others : acute pancreatitis , prematurity , hypo magenseamia. 3. Hypophosphatemia-related :( clues are involve lower limb., Other sibling may

have same condition).

X. Linked Vitamin D-resistant rickets (phsophotomic ricket): o High phosophate in urine , low s.phosophate o Low 1.25 vit d. o Treat by high phosphate + 1.25 vit d + iv bisphosonate .

AD- hypophsophomatic ricket due decrease absorption.

Congenital (maternal shortage of vitamin D )

Secondary Hypophosphatemia (malabsorption)

Fanconi's syndrome(RTA—II) 4. Secondary to other disease

(McCune-Albright syndrome)

Tumor induce.

What are clinical features of ricket?

1. general : - Growth disturbance . - myopathy

2. hands : - Widening of wrist (metaphyseal cartilage hyperplasia).

3. Skull: Cranial deformity


- Skull bossing - delay closure of AF - craniotabes

4. mouth : - delay dentition and dental caries.

5. chest : - Costochondral swelling (rachitic rosary) - Harrison's groove

6. Back : Spinal deformity (kyphoscoliosis / lumbar lordosis)

7. Abdomen : Pelvic deformity/ pathological fracture

8. lower limb: - double malleoli ( metaphyseal hyperplasia ). - Toddlers: Bowed legs (genu varum)/curving of long bones. - Older children: Knock-knees (genu valgum )/ windswept knees

What are Investigations for ricket ?

o vit D : 1 and 1.25 OH cholicalciferol concentration. o Bone profile : Ca /phosphate/ALP o parathyroid hormones levels o LFT/RFT. o urinary Ca , phosphate and c Amp. o Ca : Creatinine Ratio. o X-ray of affected joint.: oesteopenia , widening and cupping of

metaphyseal region , fraying.(irregular edge of bone ). o Dexa scan for bone density.

Type of ricket Ca phos Alk PTH Vit d 25 oh 1.25 vit d

x-linked resistant Normal v.low High Normal low

Vit d def. Low/n Normal High Low low

Dependant type 1 normal normal High High Normal v.Low

Dependant type 2 Low High normal v.High

hypoparathyrodism low high Normal/low low

pusedohypoparathyrodism low high variable Elevated

http://en.wikipedia.org/wiki/Skull_bossing

http://en.wikipedia.org/wiki/Costochondral_joint

http://en.wikipedia.org/wiki/Rachitic_rosary

http://en.wikipedia.org/wiki/Harrison%27s_groove

http://en.wikipedia.org/wiki/Kyphoscoliosis

http://en.wikipedia.org/wiki/Lordosis

http://en.wikipedia.org/wiki/Genu_varum

http://en.wikipedia.org/wiki/Genu_valgum


What is management and prevention for ricket ? MDT (Endocrinologist , dietien ,

physiotherapist , orthopedic surgeon , and psychological support).

1. Non-drug treatment :

- Increasing dietary intake of calcium & phosphates .

- Exposure to ultraviolet light (when the sun is highest in the sky)

- Cod liver oil

2. Drug treatment :

- vitamin D3. 400 IU/day. For all children .(as prophlaxis ).

- Vit D and Ca .

- Phosphorus and ca for hypophostamic ricket.

- Iv bisphosphante for dependant rickets

3. pt. at more risk need higher doses of vit d3 :

- those in anticonvulsant , steroids and anti – HIV

- Breast fed infant.

- Lactating mothers.

What are complications of rickets ?

- Short stature

- Skeletal deformity

- Fractures

- Dental malocuulsion.

DD of craniotabes :

- Osteogensis imperfect

- Ricket

- Massive hydrocephalus

- Syphilis

What are types of vit D ?

- Vit D2 ( ergocalciferol)

- Vit D3 (cholicalferol)

- 25 hydroxy cholicalciferol (calcidiol )

- 1-25 hydroxycholicalciferol (calicitrol)


Rickets

Task: examine lower limb and proceed/ examine this baby e abnormal gait examine .

o General observation:

Position of child and status : well/ill. RD or not.

Equipments: wheel chairs , walking support.

growth : short for his age , FTT. , large head.

Dysmorphic features

Clues : bossing of skull , alopecia (vit d def. type 2 dependant) o Screening Qs.:

Pain anywhere ?

Ability to go upstair

Dress/undress himself. o Standing : ask pt. stand and look for :

Anteriorly for bowing of leg, any deformity or scar.

Side for bowing also may be anterior bowing

Back o Gait (if he can walk ) : ask pt. walk , then tip toe and heal walk.

waddling gait " proximal myopathy " . o Back : for kypho-scolosis , and do pending test o LL examination : Ask pt. lie down for :

Look : joint deformity , bowing of leg , skin pigmentation, scar.

feel : knee effusion

Move: knee flexion/extension-hip flexion internal and external rotation.

measure : leg discripency , upper/lower segment ratio. o In order to continue examination : looking for other signs of ricket

Hands : widening of wrist joint. Pallor due to iron def. anaemia signs of chronic liver disease.

Skull : Inspect for : Macrocephaly./ frontal bossing /alopecia./fair

hair "cystonosis" Palpate for : wide AF and suture., craniotabes .

Eye for : palor , jaundice., eye brow loss

Mouth: Dental Caries/Delay Dention.

Chest : inspect for Chest deformity : ricketic Rossary /Harrison sulcus / pigeon

chest /pectus exacavatum "Harrison groove". Porta cath for biphosphonate in case of hypophosphatmic

ricket , and for ca infusion in case of ca dependent rickets . central line in case of CRF.

Abdomen :


Inspect for distended due to hypotonia , (Scar For Pertonial Dilyasis (may be ricket as complications of CRF)

Palpate for liver and kidney

CNS : hypotonia (due myopathy). Due to hypophsophataemia . o To complete examination :

Plot his weight " small" , height " short" and HC "large" in appropriate growth chart

Upper to lower segment ratios (decrease in presence of scoliosis).

Check v/s because high BP in CRF

Development delay and pupertal assessment

R.S : due to chest infection due to hypotonia .

CVS : assess due to pulmonary HTN due to scoliosis.

Skin : hyperpigmentation

Signs of chronic liver disease , signs of malabsorption

Discussion

What is diagnosis ? case of ricket

What is rickets ?

Rickets is defective of mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D , phosphorus or calcium, potentially leading to fractures and deformity.

DD of bow leg and knock knee :

- Rickets - Physiological bow leg (resolved by 3yrs). Physiological knock knee (resolve by

7 yrs). - Physical injury : trauma , infection , tumor. - Blount's disease - Cong. Pseudoarthrosis – NF1. - Metabolic : rickets , hypophosphatasia. - Skeletal dysplasia : osteogensis imperfect. , achondroplasia metaphysea

dysplasia , endrochondromatosis ,. - Neuromuscular disorder : CP.

What are causes of ricket?

5. Vitamin D-related:- main effect of( vit D.) is increase in both phosphate and Ca. (mainly affect upper limb.)

Vitamin D deficiency.


o nutritional ricket : decrease intake / malabsorption/ lack of sun light.

o Chronic liver disease -Anticonvulsant drugs.

Vitamin D-dependent I - AR (def of Renal 1-hydroxylase deficiency)

Vitamin D- dependent II -AR (1.25 OH vit D Receptor mutation ) e alopecia.

Congenital vit. D def.

6. Hypocalcemia-related : causes are

VITAMINE D def.(see above).

Malabsorption and dietry.

Chronic renal failure.

Hypoparathyroidism.(autoimmne) o PTH low. o Increase in urinary cyclic AMP in response to IV PTH.

Pseudohypoparathyroidism (end organ resistance to PTH): o PTH levels are v.high. o Phenotype : short stature , moon face , short 4th metacarpal

bone , mental retardation. o No response to IV PTH.

N.B : Pseudo pseudo hypoparathyroidism : (Normal investigation , Same phenol typical features.).

Others : acute pancreatitis , prematurity , hypo magenseamia. 7. Hypophosphatemia-related :( clues are involve lower limb., Other sibling may

have same condition).

X. Linked Vitamin D-resistant rickets (phsophotomic ricket): o High phosophate in urine , low s.phosophate o Low 1.25 vit d. o Treat by high phosphate + 1.25 vit d + iv bisphosonate .

AD- hypophsophomatic ricket due decrease absorption.

Congenital (maternal shortage of vitamin D )

Secondary Hypophosphatemia (malabsorption)

Fanconi's syndrome(RTA—II) 8. Secondary to other disease

(McCune-Albright syndrome)

Tumor induce.

What are clinical features of ricket?

9. general : - Growth disturbance . - myopathy

10. hands : - Widening of wrist (metaphyseal cartilage hyperplasia).

11. Skull: Cranial deformity


- Skull bossing - delay closure of AF - craniotabes

12. mouth : - delay dentition and dental caries.

13. chest : - Costochondral swelling (rachitic rosary) - Harrison's groove

14. Back : Spinal deformity (kyphoscoliosis / lumbar lordosis)

15. Abdomen : Pelvic deformity/ pathological fracture

16. lower limb: - double malleoli ( metaphyseal hyperplasia ). - Toddlers: Bowed legs (genu varum)/curving of long bones. - Older children: Knock-knees (genu valgum )/ windswept knees

What are Investigations for ricket ?

o vit D : 1 and 1.25 OH cholicalciferol concentration. o Bone profile : Ca /phosphate/ALP o parathyroid hormones levels o LFT/RFT. o urinary Ca , phosphate and c Amp. o Ca : Creatinine Ratio. o X-ray of affected joint.: oesteopenia , widening and cupping of

metaphyseal region , fraying.(irregular edge of bone ). o Dexa scan for bone density.

Type of ricket Ca phos Alk PTH Vit d 25 oh 1.25 vit d

x-linked resistant Normal v.low High Normal low

Vit d def. Low/n Normal High Low low

Dependant type 1 normal normal High High Normal v.Low

Dependant type 2 Low High normal v.High

hypoparathyrodism low high Normal/low low

pusedohypoparathyrodism low high variable Elevated

http://en.wikipedia.org/wiki/Skull_bossing

http://en.wikipedia.org/wiki/Costochondral_joint

http://en.wikipedia.org/wiki/Rachitic_rosary

http://en.wikipedia.org/wiki/Harrison%27s_groove

http://en.wikipedia.org/wiki/Kyphoscoliosis

http://en.wikipedia.org/wiki/Lordosis

http://en.wikipedia.org/wiki/Genu_varum

http://en.wikipedia.org/wiki/Genu_valgum


What is management and prevention for ricket ? MDT (Endocrinologist , dietien ,

physiotherapist , orthopedic surgeon , and psychological support).

4. Non-drug treatment :

- Increasing dietary intake of calcium & phosphates .

- Exposure to ultraviolet light (when the sun is highest in the sky)

- Cod liver oil

5. Drug treatment :

- vitamin D3. 400 IU/day. For all children .(as prophlaxis ).

- Vit D and Ca .

- Phosphorus and ca for hypophostamic ricket.

- Iv bisphosphante for dependant rickets

6. pt. at more risk need higher doses of vit d3 :

- those in anticonvulsant , steroids and anti – HIV

- Breast fed infant.

- Lactating mothers.

What are complications of rickets ?

- Short stature

- Skeletal deformity

- Fractures

- Dental malocuulsion.

DD of craniotabes :

- Osteogensis imperfect

- Ricket

- Massive hydrocephalus

- Syphilis

What are types of vit D ?

- Vit D2 ( ergocalciferol)

- Vit D3 (cholicalferol)

- 25 hydroxy cholicalciferol (calcidiol )

- 1-25 hydroxycholicalciferol (calicitrol)


Specific Joint Examination

1. General Comment

- ill /in pain

- Growth

- dysmorphic f.

- Equipments(accessories): orthosis ,plaster cast., wheel chair .

- posture

2. Screening Questions.

3. GAIT EXAMINATION:

viii. Trendelenburg gait (non-painfull limp): the affected hip is lower than

unaffected hip (stay more on affected side).

Signify :

Congenital hip dislocation

Muscular dystrophy

Slipped capital femoral epiphysis.

(Trendelenburg +Ve / —Ve "Antalgic" ) .

ix. Antalgic gait ( painful limb): the affected hip is higher than un

affected hip (stay less on affected side).

signify

Infection

Trauma

Perthes disease

JIA.

If + ve antalgic ….do musculoskeltal examination.

4. Look / Feel / Move/Measure :

a. Look (inspection) -- with compare Expose the Affected Joint for :(Scar

/Skin/erythema/deformity /Symmetry/Posture/M. Wasting)

b. Feel(palpate) – while doing (look to the face)

- Tenderness ( look to the face)

- Hotness : by back of hand and compare

- Effusion :

by squeezing from above, and then do patellar tap. Or

bulging sign.

c. Move:

1. Active before Passive Movements.

2. Normal before abnormal Joint first.

3. Affected Joint (examine joint above &below).


4. Use the Goniometer (angle measurement): For measurement of

movement limitation.

d. Measure:

1. Thigh Circumference for muscle wasting (from Tibial Tuberosity 5cm

below/10cm above)

2. True Leg Length (Anterior Superior Iliac Spine → Medial Malleolus)

3. Apparent leg length (Symphsis. Pubis → Medial Malleollus)

5. Ass the Function of the Joint:-

1)Upper L.(drinking/Eating /combing /holding objects /buttoning /writing )

2) Lower L. (Gait-if not done / up stair..)

3)Spines (dressing / undressing / taking off-putting on shoes..)

6. To complete my Examination:

a) Assess other joints (PGALS)

b) Assess for systemic manifestations: (+ complication of treatment)

- in case of inflammatory artheritis (Eye / Skin /Nails / Heart / Abd / Vital signs)

- in case of scoliosis (skin /CNS/pubertal staging/RS/marfan syndrome if tall)

presentation : ( page 370 MB.)Describe the pathology

(Appearance / Range of movement / Impaction on Function)

discussion

Investigation:- three main investigations :

1. Imaging of bones and joints :

- x-ray changes : narrow space , soft tissue swelling

- MRI , CT scan .

- U/S to detect early joint inflammation.

- Dexa scan : for oesteoporosis.

2. Blood test anylasis :

- Inflammatory Markers :ESR , CRP

- Serum uric acid.

- RF , anti –CCP antibody test.

- Blood c/s in mono arthropathy even if no fever.

3. Synovial fluid anylasis : to r/o infection for

- Culture and gram stain.

- Gout crystal


Treatment:

1/Medical

2/ Non Medical (physiotherapy / occupational therapy / Orthopedic /Orthotics)


osteogenesis Imperfecta

Task : examine the eye and proceed/lower limb and proceed "MSK":

The clue may be mother or sibling in wheel chair., multiple bone deformity , or

multiple bone fractures in history..

- General observation

Equipments and surrounding : wheel chair/aid walker , one of the

family have same problem.

Growth : Small for his age (weight and height ).upper segment/lower

segment ratio decrease due to scolosis.

Dysmorphic features

Big head .

- Screening questions .

- Stand with good exposure and give look from all directions.

- Gait : if he can walk

limping gait – trend berg gait (due to bowing of leg or leg discripency)

- Back for kyphoscolosis.

- Look , feel , move

Look : multiple scars ,multiple angulation and deformity in upper and

lower limb., may be bruises.

Feel : no need b/c no swelling

Move : joint laxity. Hyper mobile (but difficult to examine hyper

mobile joint due to risk of fracture) – at least do active movement ).

Measure : leg discrepancy. Upper/lower segment ratio decrease due

to scoliosis.

Functional assessment .

- In order to continue my examination by looking for:

Head examination :

o big head.(hydrocephalus).

o Eyes : blue sclera

o Teeth : hypoplastic , brown ,blue translucent.

o Ears :Hearing loss.(e hearing aids).

Chest :

o for porta cath for management (bisphosphonate).

o Deformities

o R.S : restrictive lung disease due to scolosis.

o CVS :aortic valve dilatation , cor pulmonale.

Skin for easy brusing , increase laxity of the skin " skin stretch test".

Plot him in growth chart for height " short ", head circumference " big

head ".


Examine the mother for clue.(may be in wheel chair) , or having one of

sibling with same condition.(multiple fracture and scolosis).

Neurological assessment : examine cranial nerves (skull deformities

cause nerve compression).

Discussion

What is Osteogenesis Imperfecta ?

- A disorder of connective T. characterized by bony fragility.

- Abnormality in the genes encode for type 1 collagen , affect bone , sclera and

ligaments.

What are the types and what is their inheritance?

- 4Types:

1. Type-I (60%) most common type.

- (A.D.) (mother can come with wheel chair)

C/F:-

- Osteo prosis .

- Short stature /fragility of bone/ Excessive Bone fracture.

- Limping /leg discrepancy

- Skin hyper laxity.

- Blue Sclerae .

- Hearing loss (conductive hearing loss) due to autosclerosis.

- Spontaneous Improvement with Puberty.

- Abnormality in the teeth :

hypoplastic enamel ,

brown-yellow translucent

- Aortic valve dilatation.

- X.Rays →

G.Osteopenia .

Old fractures

Wormian Skull Bone….neonatal period

2. Type-II (AD/A.R.)- lethal form.

- Lethal / Low Birth Wt / Neonatal Death.

- X.Ray → accordion like long bones.

3. Type-III (A.R.):severe non lethal form.

C/F:- Osteoprosis & Bone fracture & Early Blue Sclera & Hearing loss. Easy

brusing.

4. Type-IV (A.D.)- mild form

- Only short stature may be.


- less features than Type –I

- NO Blue Sclera.

- No hearing loss.

What is the d/d?

- Non accidental injury

- Metabolic bone disease.

- Severe vit D resistant Ricket.(CONG.)

- Mucopolysacridosis.

- Skeletal dysplasia.

What investigations ?

- Skeletal survey : fractures , wormian bone , oesteopenia

- Skin biobsy : for collagen abnormality.

- Hearing test

- Genetic test : confirmatory.

What is Management ?

Multidiscplenary approach: pediatrian as team leader

1. Careful Nursing care

2. Obs/gyn : elective C/S. (if Ante-Natal U/S in severe cases found fracture

intrauterine).

3. Orthopedic surgeon : Aggressive Orthopedic ttt (splinting)

4. Occupational therapist.

5. Social worker.

6. Psychotherapist.

7. physiotherapy.

8. Genetic Counseling

9. ENT / ophthalmologist : for hearing defect

10. Pulmonologist and cardiologist : for resp. and cardiac complications.

11. Neurosurgeon : for neurological manifestation.

12. Others :

Vit D3.

IV bisphosphanate.

Home learning/ someone helping him in school.

Computer base job.

Spinal surgery if early discover.

What advices for parents?

- Elective C/S if antenatal fracture.


- Care full manipulation

- Avoid contact exercise.

- Genetic counselling.


JIA

TASK: either examiner ask you to examine lower limb or upper limb

a) If lower limb examination:

i. General comment

ii. Screening questions . good exposure.

iii. Gait

iv. Back

v. Lying down for :Look , feel , move , measure.

b) If upper limb or hands:

i. General comment

ii. Screening questions

iii. Sitting for : Look , feel , move , measure

In order to continue :

Eyes : uvitis , iridocycylitis.

Chest for porta cath .

Abdomen for hepatosplenomegaly.

Examine for lymph node.

Check skin for rash.

Then complete your examination by:

Doing measurement.

Examine other joints

Growth review

Functional assessment and how he manage at school.

Signs of Steroid toxicity

PRESENTATION:

DISCUSSION

What is JIA ?

- is swelling of one or more joints for more than 6weeks/ 6moths in the absence

of underlying pathology.


What Criteria for classification ?

1. Age < 16yr.

2. Duration ≥ 6 weeks./3 month/6month

3. Arthritis define as :

- Joint Swelling/effusion , or

- Presence of 2 or more of the following : ( movement

/Tenderness/Hotness/Painful move )

- N.B: Artherlagia means painfull joint.

4. no of joints :

poly articular : (5 or more joint ) , 2 types : RF – ve , RF + ve.

oligoarticulal : (4 or less joint ) , 2types :

Persistant oligo : 4 joints involve from the start.

Extended oligo : 2 joint involve and then after 6 month involve

more than 4 joint.

5. systemic manifestations : systemic arthritis ( arthritis with intermittent

fever.)

6. inflammation of tendons ( enthtitis related arthritis.).

7. changes of nails ( psoartic arthritis.)

what are the Types of JIA ?

1. Systemic J.I.A. :

Epidemiology:

o 20% of JIA.

o Onset usually begins > 5years

o Incidence :Male = female (> 5years) / F < M (< 5YEARS).

Clinical Features:-

a/ systemic symptoms:

o Fever (> 38.5OC.) for at least 6 weeks.

o Skin Rash (salmon-pink): macular , non - pruritic with fever or heat and fades

if temp is normal.

b/Polyarticular A.

c/Others:

o Wt loss /Anorexia .

o Lymphadenopathy / hepato-splenomegaly .

o Percarditis , pleuritis.


o Anaemia/ W.B.C. & PLT .

o RF and ANA are (-ve).

o No uveitis /sacroilitis

o Myalgia /artheralgia

D/D:

o Malignancy

o SLE

o Kawasaki disease

o Rheumatic fever

o Infection /sepsis (TB , malaria ,endocarditis )

o Reactive artheritis

2. Oligo Articular A. (35 – 40% of JIA.)

Clinical Features:-

1. Age2---5Yr. Girls (80%) .

2. Large Joints (Knee / Ankle / Wrist )

3. Joints : NO ≤ 4 / Swelling without pain / Hot / Tenderness without erythema.

4. Ch. Uveitis(by Slit Lamp): ANA +Ve / 30%.

5. Leg Length discrepancy (affected limb is longer)

Prognosis:- Most resolved (by 6 month ) .20% Relapse .,20% → Extended Oligo J.I.A.

3. Enthesitis – related arthritis : refered to inflammation of tendon insertions

e.g: Achilles tendon and planter fascia.

- 10-15% of jia , 90% boys

- Few large joint involved esp. hip girdle ,spine, sacroilitis is common.

- Acute uveivitis 10 – 20% of cases.

- ANA , RF( -VE )

- HLA B27 +ve in 75% .

- Many develop ankylosing spondylitis.

4. Poly Articular

1/ Rh. F. —Ve.

- 20 – 25% of JIA.

- Symmetrical Artheritis ( large &small) NO Sacro-iliitis.

- T.Mandibular joint affected…….lead to limited mouth opening.

- Uveitis Rare.

- RF –ve /ANA +ve in 25%.


- 10—15% erosive Artheritis.

2/Rh F. +Ve.

- 5-10% of JIA./80% Girls

- Affecting upper and lower limbs.(hands and feet).

- Rh.F +Ve 100% / ANA +Ve 75% /HLADR4 (aggressive course).

- NO uveitis , sacroiliitis rare.

- Poor prognosis : 50% erosive A. + Joint destruction + contraction.

Investigations:

- CBC .: anaemia , increase platelets and WBCs.

- CRP (Acute Phase Reactant) reflect Activity Of The Disease , ESR.

- Serum amyloid

- Immunological : DSDNA , RF , ANA.

- HLA typing.

- Radiology x-ray finding in JIA:

Soft Tissue Swelling

Joint Space Narrowing

Erosion of the joint later on.

- Eye examination

Management of J.I.A.

Multidisciplenary approach:

- Paediatricion

- Physiotherapist


- Social workers

- Orthotics.

- Psychologist .

- Hand and foot specialist."chiropodists".

1. Non DRUG ttt :- By physiotherapy and occupational therapy.

a. Hydrotherapy .

b. Splints.

c. Gentle exercises.

d. passive movement.

2. DRGU ttt :- by pediatrician

a. N.S.A.I. drugs (profen, naproxen).

b. Steroids :


intra articular triamcinolone : Useful in oligoarticular.

Oral Steroids (prednesolone) .

injection methylprednisolone.

c. immunosuppressant (Disease modifying drugs)

(Methotrexate /ciclosporin)

sulfasalazine – enthesitis

anti – TNF ( Infliximab )

Side effect :- Hepatotoxicity /ulcerative stomatitis, / low white

blood cell / Abdominal pain / acute Pneumonitis / pulmonary

fibrosis / kidney failure

d. immunomodulator (New drugs treatment )

ANAKINRA (IL 1 inhibitor ).

Actemra ( IL 6 receptor antagonist ).

Survival guide page 273

SYSTEMIC JIA OLIGOARTICULAR JIA-persistant

POLYARTICULAR JIA

EPIDEMOLOGY 10%> 5y /M = F 60% /1-5y. / F < M 30% / F <M

Types ………. Type 1-persistant Type 2-extended

Type 1-RF -ve Type 2- RF +ve

C F

COMPLICATIONS

PRGNOSIS

INVESTIGATION

TREATMENT

http://en.wikipedia.org/wiki/Ulcerative_stomatitis

http://en.wikipedia.org/wiki/Pulmonary_fibrosis

http://en.wikipedia.org/wiki/Pulmonary_fibrosis

http://en.wikipedia.org/wiki/Kidney_failure


Examine the Legs

1. general comment (posture/equipments/ill or well/dysmorphic

f/growth/)

2. screening qs.

3. Gait: Walking on heels., Walking on tiptoe. , Consider gower sign to

look for myopathy. 2 types of gait :antalgic and trendberg gait.

4. Spines: The side of scoliosis is the convex side(with elevated scapula)

2 Types of scoliosis: Postural , Structural .

5. L. Limbs.:

- If there is obvious pathology do : Look , feel , move

- if no obvious pointers to pathology , Do "legs" section of

PGALS:

Look

Feel: knee effusion

Move :knee flexion and extension , hip flexion with

internal /external rotation .

- If PGALS normal proceed to CNS examination of legs.

EXAMINATION OF THE SPINE (specific)

1. Look

- Look initially from behind the patient for any obvious muscle

wasting, asymmetry or scoliosis of the spine.

- Look from the side for normal: cervical lordosis thoracic

kyphosis and lumbar lordosis.

2. Feel

- Tenderness : Feel down the spinal processes, over the sacroiliac

joints and palpate the paraspinal muscles for any obvious

tenderness.

3. Move

- Flexion and extension should be assessed. Two or three fingers

placed over the lumbar spine will move apart and then together

during flexion and extension.


- Lateral flexion is assessed by asking the patient to run each

hand down the outside of the adjacent leg in turn.

- Cervical movements include lateral flexion, rotation and full

flexion and extension.

- Thoracic rotation :With the patient sitting on the couch to fix

their pelvis, and their arms crossed in front of them, thoracic

rotation is assessed.

- With the patient lying as flat as possible on the couch, straight

leg raising is performed. Dorsiflexion of the foot may

exacerbate the pain caused by nerve root entrapment or

irritation such as a prolapsed inter vertebral disc.

- A brief neurovascular examination including the assessment of

limb reflexes, dorsi flexion of the big toe, and assessment of

peripheral pulses should be made. If there has been any

indication of abnormality from the history, a full neurological

and vascular examination including sensation, tone and power

should also be performed.

EXAMINATION OF HIP JOINT:

1. Look

- Gluteal muscle wasting : when patient standing.

- Scar : over hip joint.

- flexion deformity of the hip may be seen

- Asymmetry : With the patient lying as flat as possible look from

the end of the bed comparing for symmetry.

- leg length discrepancy if obvious may be seen and can be

checked for using a tape measure.

- Measurement : a measurement can be taken from a fixed

point such as the anterior superior iliac crest to the medial

malleolus of the ankle. Both sides are compared. A difference

suggests a real leg length discrepancy.

2. Feel

- Tenderness : greater trochanter should be palpated.

3. Move

- Full flexion of the hip .


- internal and external rotation with the hip and knee flexed to

90°. Both sides can be compared.

Thomas’ test: Thomas’ test assesses for a fixed flexion deformity of the

contralateral hip. The examiner’s hand is placed under the patient’s back

to check that lumbar lordosis is removed during full flexion of the hip.

The contralateral hip should then be observed. If there is a fixed flexion

deformity this leg will be forced off the couch.

Trendelenberg’s test: Trendelenberg’s test involves the patient standing

alternately on each leg alone. It assesses the hip and gluteal muscle

strength of the side they are standing on.:

In a negative test the pelvis remains level or even rises.

In a positive test the pelvis will dip on the contralateral side.

4. Function is assessed by:

- asking the patient to walk. Looking for :

antalgic " painfull hip " or

trenderburg "proximal muscle weakness."

EXAMINATIONS OF KNEE JOINT

1. Look

- Asymmetry : Look initially from the end of the bed for loss of

symmetry

- Abnormal posture : and loss of normal leg alignment such as:

varus deformity – where distal to the knee is deviated

medially leading to a bow-legged appearance – or

valgus deformity – where distal to the knee is deviated

laterally leading to a knock-kneed appearance.

- Fixed flexed deformity of knee.

- Look for rashes, scars, swellings, and muscle wasting

2. Feel

- Temperature : is assessed by starting at the mid-thigh and

moving down, and comparing both knees to each other.

- Tenderness : Feel around the border of the patella for

tenderness and behind the knee for popliteal cysts or swellings.

- knee effusion assess by :


a patellar tap : while pushing vertically down on the

supra patellar pouch two or three fingers of the other

hand attempt to bounce the patella.

cross-fluctuation or the bulge sign for smaller effusions

is performed by emptying the medial gutter of any fluid.

When the hand is swept over the suprapatellar pouch

and down the lateral gutter the medial side may refill –

producing a bulge of fluid.

- With the knee flexed to 90° the joint line is opened and can be

palpated along with the patellar tendon insertion for

tenderness.

3. Move

- full flexion and extension are performed both actively and

passively.

- Excessive extension is a sign of hypermobility. Both sides

should be compared.

4. Function

- Functional assessment includes asking the patient to walk.

EXAMINATION OF FOOT AND ANKLE

1. Look :

With the patient on a couch and their feet overhanging the

end of it,

- Symmetry : look at the feet, comparing for symmetry.

- Nail changes and skin rashes.

- Look for the alignment of the toes and any evidence of hallux

valgus of the big toe.

- Look for clawing of the toes, joint swelling and callus

formation.

- Look at the underside or plantar surface for callus formation.

- Look at the patient’s shoes for asymmetrical wearing of the

sole, the presence of insoles or other signs of poor fit.

With patient weight bearing :

- Mid foot for arch position


- Achills tendon thickening or swelling : from behind.

- Varus , valgus deformity from behind.

2. Feel

- Temperature : Assess the temperature of the ankle and

forefoot and

- Pulse :check for the presence of a peripheral pulse.

- Tenderness : Gently squeeze across the metatarsophalangeal

joints while watching the patient’s face. The tarsal joints, ankle

joint line and subtalar joints should all be palpated for

tenderness.

3. Move Range of movement in the foot and ankle includes :

- inversion and eversion at the subtalar joint,

- dorsiflexion and plantar flexion at the big toe, and at the ankle

joint. These should all be done both actively and passively.

- Mid-tarsal and subtalar movements can also be assessed

passively.

4. Function

- Gait should be assessed looking for the normal cycle of heel-

strike and toe-off.


HAEMOPHILIA

TASK: either examiner ask you to examine lower limb or upper limb

Clues :baby came with epistaxis , brusis ,haemoarthosis ,male baby.

c) If lower limb examination (USUALLY KNEE JOINT )

vi. General comment :

equipments ( accessories)

status : ill/well .

growth .

abnormal features.

Screening questions

vii. Gait : only ask him to go and come (Pt may show antalgic gait.)

viii. Back

ix. Lying down for :

Look : wasting , brusis , joint swelling

feel : tenderness , hotness ,effusion.

move : normal before abnormal , passive before active .

measure : for leg discripency .

d) If upper limb or hands:

iv. General comment :

v. Screening questions

vi. Sitting for :

Look : deformity , wasting , site of swelling .

feel: tenderness , hotness , effusion.

move : passive before active

measure : for limb discrepancy.

Then complete your examination by:

- Doing measurement

- Examining other joint :

hip and ankle joints.(if knee joint affection) + PGAL of upper limb.

wrist and shoulder (if elbow affection) + PGAL of lower limb.

- Functional assessment.

- Plot him in growth chart.

- SKIN :bruises

- Chest for Porta cath (v.imp).


- Abdominal examination : for hepatomegally (due to hepatitis as complication

of transfusion ) , tenderness due to retroperitoneal bleeding.

- Neurological assessment stroke due haemorrhage .

Presentation :

What is diagnosis ?

it is haemoarthrosis due to haemophilia

What is dd of monoartheritis ?

- Trauma

- Tumor : leukaemia , lymphoma.

- JIA

- Infection : meningococcal , TB , viral , fungal .

- Haematological disease : sickle cell disease , haemophilia.

What types of haemophilia ?

1. Haemophilia A …..factor 8 def. ( both ativity and protein )(8o% - x-linked recessive)

2. Haemophilia B ……factor 9 def.

3. Haemophilia C ……factor 11 def.

4. Haemophilia ……factor 7 def.

What are causes of haemophilia?

1. Congenital : haemophilia 8 , 9 , 11.

2. Acquired : is autoimmune antibodies attack mainly factor 8 ---no fhx. Of bleeding.

Ass with other autoimmune disease like lupus , IBS , rehuamatoid arthritis , multiple

sclerosis.

How to categorize the haemophilia ?

According to level of factor 8 activity in the plasma

1. Severe case ………..> 1%

2. Moderate case …….1% -5%

3. Mild case ……………...6%-30%.

What is clinical presentation?

- Bruising at birth or after immunization.

- Haemoarthroses (knees ,ankles ,and elbows) .

- Degenerative changes with osteoporosis , muscle atrophy and immobile joint .

How does arthropathy reflect the seriousness of haemophilia?

- Arthropathy can lead to irreversible joint deformity .


What investigations?

- CBC for anaemia.

- Prolong APTT

- Normal BT , platelets , and PT.

- Prenatal diagnosis possible.

- Factor assay 8,9

- X-ray of joint affected.

What is management plan?

MULTIDISCIPLINARY APPROACH: peadtric haematologist , physiotherapist , Occupational

therapy / dietien / orthopedic surgeon / dentist /orotist.:

o Admission/rest the joint /elevate limb.

o Analgesia : paracetamol (Avoid IM inj. ,aspirin ,and NSAIDS).

o Physiotherapy to prevent muscle from atrophy , physiotherapy after recovery from

joint bleeds (after 72 hours).

o Factor 8 concentrate (for severe haemophilia A) either :

Prophylaxis against haemorrhage ( aiming to get over 2% activity)

Intracranial haemorrhage and major operation (aiming 100% activity)

o For mild –moderate haemophilia :

Vasopressin (DDAVP) which releases endogenous factor 8 from stores

Tranexamic acid tablets for minor mouth bleeds.

o Steroid for synovitis ,

o while surgery (synovectomy) for referactory cases of synovitis.

o Inform GP and dentist.

o Educate parents.

o Genetic counseling.

o If antenatal diagnosis ,no forceps/ventouse delivery.

o Hepatitis A/B vaccines S/C.

What are problems of factor 8 transfusion?

1. Blood –borne diseases e.g: HIV ,hepatitis b and c (this is has been helped by

development of recombinant factor 8 concentrate )

2. Development of factor 8 inhibitors which manage by :

Higher dose of factor 8 to neutralize antibodies.

If not success , use of factor 7.

What is dose of factor 8?

40 iu/kg ( loading dose)

Then 20 iu/kg (on day 2 - 5).

Then from day 5 every other day for 10days.

Then weekly lifelong in severe case as prophlaxisis.


What is factor VII deficiency?

Factor VII deficiency is an inherited AR ,bleeding disorder that is caused by a problem with

factor VII. Because the body produces less factor VII than it should, or because the factor VII

is not working properly.

What are cuses of Factor VII deficiency ?

- inherited : with other factor deficiencies (see Combined deficiency of vitamin K-

dependent clotting factors).

- Acquired : It can also be acquired later in life as a result of liver disease, vitamin K

deficiency, or certain medications such as the blood-thinning drug Coumadin®.

Symptoms :

nosebleeds (epistaxis)

easy bruising

heavy or prolonged menstrual bleeding (menorrhagia)

bleeding in the mouth, particularly after dental surgery or tooth extraction

IVH ( newborns)

heavy bleeding at circumcision

Diagnosis

Factor VII deficiency is diagnosed by a variety of blood tests that should be performed by a

specialist at a hemophilia/bleeding disorders treatment centre.

Treatment

There are several treatments available for factor VII deficiency.

Recombinant VII a concentrate (rFVIIa)

Factor VII concentrate

Prothrombin complex concentrate (PCC) containing factor VII

Fresh frozen plasma (FFP)

http://www.wfh.org/en/page.aspx?pid=663




Regional musculoskeletal examination

Regional examination of the musculoskeletal system (REMS) refers to the

more detailed examination that would be expected once an abnormality

has been detected through either the history or screening examination.

The following general principles should be followed during the

examination process:

1. Introduction

- Firstly, introduce yourself to the patient.

- Explain what you are going to do to the patient.

- Gain verbal consent to examine.

- Ask the patient to let you know if you cause them pain or

discomfort during the examination.

2. Look

- You should look for skin changes, muscle bulk and swellings in

and around the joint. And look for deformity in terms of

alignment and posture of the joint.

3. Feel

- Feel for skin temperature across the joint and compare with

other joint.

- Assess swellings for fluctuance and mobility. Vascular and

neurological assessment should also be made.

4. Move

- The full range of movement of the joint should be assessed

both actively and passively. By doing this a loss of movement or

degree of extra movement known as hypermobility may be

detected.

5. Function

- A functional assessment should be made particularly relating to

how the patient uses that particular joint.


Regional joints examination:

EXAMINATION OF HAND AND WRIST :

1. Look It is most comfortable for the patient to have their hands

positioned on a pillow. Dorsum of the hand face up . In this

position look for :

Dorsum of the hand :

- obvious swellings, deformity , muscle wasting and scars.

- Skin : for rashes or signs of long-term steroid use such as

thinning or bruising.

- nails for psoriatic changes of pitting and onycholysis, and also

nail fold vasculitis.

- Joints and its posture : Which joints are mainly affected? The

distal/proximal interphalangeal joints, the

metacarpophalangeal joints or the wrists? And it's posture. ? is

it symmetrical or asymmetrical.

Palm of the hand : ( ask the patient to turn their hands

over)

- Muscle wasting of thenyar and hypothenar.

- finger pulp , signs of palmar erythema , scars from carpal

tunnel release.

2. Feel : ( temperature , tenderness and effusion , pulses. Sensation ):

With the palms face up :

- Pulse : Feel for peripheral pulses,

- muscle bulk of thenar and hpothenar and tendon thickening.


- Sensation : Assess median and ulnar nerve sensation by

touching gently either over the thenar and hyperthenar

eminences or index and little fingers respectively.

With the palm face down:

- Temperature can be assessed by comparing the forearm to the

wrist and metacarpophalangeal joints.

- Tenderness Gently squeeze across the metacarpophalangeal

joints while watching the patient’s face.

- Effusion of fingers : Bimanually palpate any

metacarpophalangeal joints , proximal and distal

interphalangeal joints which appear tender or swollen – this

should be done by having your thumbs above and index fingers

below the joint , for rubbery feel or fluctuant ( synovitis).

- Effusion of wrist : Both wrists should be bimanually palpated in

a similar manner.

- Sensation : Radial nerve sensation is most reliably tested over

the thumb and index finger web space.

- Runs your hand along the unlar border of arm up to wrist feel

and look for evidence of psoriasis and rheumatoid nodules on

extensor surface.

3. Move : passive and active

- Wrist flexion : back to back of hand.( actively ).

- Wrist extension : palm to palm (actively).

- Wrist flexion and extension assess passively by prayer's sign

- Fingers extension and abduction " making star" : Ask the

patient to extend their fingers fully against gravity and spread

out assess radial and unlar nerves.

- Abduction of the thumb assesses the median nerve.

- Fingers flexion " making fist" : The patient should be asked to

make finger fist , Assess median and ulnar nerve.

- Make a circle (opposing thumb and index finger) Assess Median

N.


- Touch fingers with thumb.

4. Function

- Ask the patient to grip your two fingers to assess Power grip .

- Ask the patient to pinch your finger to assess pincer grip .

- Other functional tests may be made such as picking up a small

object from your hand , doing up a button or holding a pen or

cup.

Phalen’s test for carpal tunnel syndrome: In patients whose history

suggests a carpal tunnel syndrome Phalen’s test can be performed. This

includes forced flexion of the wrist for 60 seconds reproducing the

patient’s symptoms. This may be done in one of two ways [as

demonstrated in the video ].

EXAMINATION OF ELBOW :

1. Look: for

- Carrying angle : by looking at the patient from the front .

- Flexion deformity and fullness b/w lateral epicondyl and

olecranon : by looking from the side .

- scars, swellings, rashes or signs of olecranon bursitis, or

rheumatoid nodules or psoriatic plaques : by looking from

behind.

- medial aspect should also be inspected.

2. Feel

- Temperature : is assessed by comparing joint with adjacent

sites.

- Tenderness : The olecranon process, lateral and medial

epicondyles should be palpated


- Effusion : hold forearm with one hand and with elbow flexed at

90 , palpate for head of radius and joint line with your thumb ,

for fullness and fluctant " sings of synovitis"

3. Move : active and passive

- Full extension and full flexion should be assessed actively along

with pronation and supination.

- These should also be assessed passively while holding the joint

and feeling for crepitus.

- Here, excessive extension, i.e. hypermobility, may easily be

detected.

4. Function

- Assess by allow the hand reach the mouth.

EXAMINATION OF SHOULDER

1. Look

- With both shoulders fully exposed, look from the front, the side

and behind the patient for obvious loss of symmetry, muscle

wasting or scars.

2. Feel

- The temperature over the joint line should be assessed;

- Tenderness : palpate bony landmarks, joint line and

surrounding muscles .

3. Move Shoulder movement and function can be assessed by :

- External rotation (actively): Ask the patient to put their hands

behind head.

- Internal rotation : (active) ask the patient to put their hands

behind their back. Describe how far up the back the hands

can go – lumbar , lower or mid-thoracic level.

- Full extension, flexion (active) : ask the patient to raise hands

behind and front


- abduction ( active) : ask the patient to abduct the arm to assess

for pain full arc ( between 10 and 120).

- External rotation (passively) with elbow flexed to 90° and

tucked into the patient’s side . loss of external rotation indicate

frozen shoulder

- Abduction ( passive) : Passive movements should be performed

while feeling for crepitus. Passive movement may be

particularly helpful in abduction when assessing a patient with

a painful arc where pain may be experienced between 10 and

120 degrees.

- Assessment of scapular movement during full abduction should

be assessed by both feeling and observing the scapula from

behind the patient.

4. Function

- Function has already been assessed by asking the patient to

place their hands behind their head and behind their back.


Scolosis / Kyphosclosis (mb 288)

Task : this child c/o chronic back pain ass his MSK , examine lower limb of this pt.

1. Generally : introduce yourself and make rapport

2. Screening questions :


Growth : well , tall upper limb/short trunk .

Dysmorphism / abnormal features.

Equipments : walking aids , wheel chair

4. Ask pt to stand and expose him : give look :

From front for : deformity , posture , skin , erythema , scar , asymmetry.,

muscle wasting.

From side for : kyphosis and lordosis

From back for : scolosis

5. Gait examinations : either normal or limbing

- Ask him to walk

- Then tip toe

- Then heal walk.

6. Back examinations: look form behind as the child standing for scolosis

/kyphoscolosis

- Describe the side of scolosis ( to which the spine is convex) , the shoulder on the

convex side is elevated

- Ask pt. bending forward to see if :

scoliosis disappears is postural eg: physiological

scoliosis fixed is pathological.

- Look by side for ass kyphosis.

- Palpate vertebral column for sure .

7. Lower limb examinations: ask pt. to lie in bed

- Look for : wasting , swelling , scar , cut. Mark

- Feel : if any swelling./for knee effusion

- Move : flexion /extension of knee – internal and external rotation of hip.

- Measure for : leg discrepancy ( appearant limb shorting).

8. Complete your examinations by :

- Upper limb PGALS

- RS

- Peak flow meter for restrictive lung disease.

- CVS


Discussion

Definition: lateral curvature of spine

Types:

- Postural.

- Structural .

Causes :

- Postural :

Idiopathic "physiological" most common.

o Early onset before 5 yrs

o Late onset puberty in girls.

Unequal leg length.

Unilateral muscle spasm secondry to pain

- Structural "pathological " :

Idiopathic

Neurological : CP., NF.

Muscular : Muscular dystrophies i.e DMD.

infection "osteomylitis" due to tuberculosis , staph , streptcocus , salmonella

( sickle cell disease "case in Jeddah " ) .

Bone disease e.g osteogenesis imperfecta.,

Metabolic i.e rickets.

Trauma.

Tumor .

Syndromes : Marfan syndrome , alagile syndrome , Bone vater syndrome.

What are conditions associated with scolosis ?

- Sprengel's shoulder : high scapula +/- cervical rib +/- brachial nerve problem.

- Klippel feil syndrome : fusion of cervical spine , short neck , cleft palate , hearing and

visual problem , lung problem.

Investigations :

- Bone profile.

- CPK high in case of DMD.

- X-ray spine

- MRI spine

Treatment : MDT

- Pediatriction

- Physiotherapist

- Occupational therapist.


- Orthopedic and spinal surgeon.

- According to cobs angle :

Less than 20 …..observe

20 – 40 ……spine bracing or plaster jacket.

More than 40 …..surgery.

Red flags of scolosis :

- Bowel/bladder dysfunction(neurological impairement).

- Severe pain in the back

- Systemic symptoms : fever or weight loss (i.e tumor as cause).

Complications :


- Left Ventricular Failure … cor pulmonale .

- Respiratory failure.

- Severe back pain

- Psychological impact .


Ehler-Danlos Syndrome

Dd of hypermobile joint :

- Familia

- Marfan

- Ehler-danlos

- Osteogenesis imperfect .

General look :

- Status : well.

- Growth : appropriate for his age.

- Dysmorphic features : ptosis " due to hypermobility".

Hands and upper limbs :

- Do maneuvers of hypermobility : 3

oppose thumb to forearm (beighton score -1 point for each side )

extend 5th MCP joint more than 90 degree (beighton score – 1point for

each side).

Hyper extended elbow.( 1 point for each)

- Scars and bruises in forearm.

Head and neck :

- eyes : Blue Sclera .

Chest :

- Pectus exacavtum .

- CVS : aortic root dilatation / mitral valve prolapsed.

Abdomen :

- scars of hernia repair

Back :

- kyphoscolosis.

- Hyper etended back by touching floor by palms with extended knee.

Lower limb :

- Bruises .

- Varicose vein

- Raspberry Scars / cigarratte paper like scar .

- Pes planus.


- Hyperextensiblity of both knee

Discussion

What is ehalris – danlos syndrome?

- Is the most common inherited – AD connective tissue disorder , characterized

by hyper mobile joints and atrophic scars.

- It is due to def. of tenascins " extra cellular matrix proteins"

- It is also ass with platelete dysfunction and therefore easily bruising and

haematoma formation e increase bleeding and poor wound healing post

surgery.

How many types you know ? Ehler Danlos S. (10 Types)

- Type-1: severe form ,normal life.

- Type 3 : hypermobility.

- Type 4 :with Arterial rupture.

How can present ?

- Hyper mobility and joint bleeding

- Hyper elastic skin.

- Bruising and GI bleeding.

What are problems in EDS?

- Friable arteries prone to aneurysm and rupture "dissection aorta" (type 4)

- Increase CVA.

- Dysfunction of Platelete

- Delay wound healing

- Delay walking

- Difficulties in writing

What is treatment of ehalris-danlos? MDT involve peadtriacian , cardiologist ,

gentists , occupational

- No specific treatment.

- Avoid trauma and surgery.

- Avoid Sports with High contact and high level ballet .

- Physio ttt (Hydrotherapy )

- Appropriate foot wears to prevent chronic pain.

- use wider pencils are easier to grip


Broncho-Pulmonary Dysplasia(CHRONIC LUNG DISEASE)

General inspections and clues :

o Small for Age.

o Nasal cannulae connected to O2. , gastrostotomy tube.

o Cushingoid face (dexamethasone).

o Scaphocephalic Head (boat shape ).

o Stridor (long ETT).

Hands:

o Venepuncture multiple scars.

o NO Clubbing

o NO Cyanosis.

o Pulse .

Chest :

- Inspection :

o Hyper-expanded Chest

o intercostals recession (RD)+

o Scars for Chest Drain +

o Scar of PDA ligation (Lat-TH.)

- Palpation :

- Percussion:

- Auscultation :

o Bilateral wheeze and crackles


- CVS :Loud S2 (of pulm. Hypertension ) , Or machinery murmur (of PDA ).

Check Bp.

- Abd : liver + Gastrostomy + Nissen's F. Scar.(GERD).

- Developmental examination.

- Plot him in appropriate growth chart .

- ENT examination.

- Check O2 saturation.

discussion

What is chronic lung disease ?

- Preterm +

- O2 Supplementation for ≥ 28days with or without ventilation

- Resp. distress.


- Abnormal c-x-ray.

Causes of CLD:

1. Mechanical ventilation

2. Oxygen toxicity.

3. Infection, inflammation.

4. surfactant deficiency

What are associations of CLD ?

- Inspired high levels oxygen.

- Barotraumas and volutrauma.

- Air leak

- PDA.

What is dd of CLD ?

- Other causes of hyper expanded chest / bronchiectasis.

- Immunodef.

- Chronic aspiration : due to GERD / repaired TOF.

- Cong heart disease (AVSD), heart failure.

Treatment of CLD : MDT peadtrician . , dietien , physiotherapist ,

gastroenterologist , cardiologist , neurosurgeon , pedia surgeon

1. O2 Supply to maintain O2 more than 95%.

2. Steroids (Dexamethazone.) to help in weaning off ventilator or decreasing

O2 requirement.

3. Diuretics.: use to decrease fluid overload so improve lung and heart

functions.

4. Physiotherapy.

5. Dietien : for Nutriton (High Calories ) , vitamins and iron.

6. Palivizumab + Influenza Vacc. + pneumococcal.

7. Treat Complication (P.D.A. / G.E.R.D./rt side heart failure/ osteopenia of

prematurity. )

Prognosis (good):- resp. function tend to recover.

- Most weaned O2before H. discharge or other by 1 Yr.

- Prone to Recurrent infections , wheezy chest in early child hood.


What is benefit of antenatal steroids "given to the mother"?

- Reduce mortality rate due to respiratory distress syndrome.

- Reduce intraventricular haemorrhge.


bronchectasis

Examination findings in bronchectasis :

a. G.look:

- Equipements : sputum pot. / oxygen .

- FTT.

- +/- tachypnea

b. Hand :

- Clubbing

c. Head and neck

- +/- central cyanosis.

- +/- halitosis.

d. Chest :

- Inspection : (as example if right side lobectomy)

o RT. Site of chest moving less.

o +/- Signs of RD.

o RT. Lateral thoracotomy scar

o Hyper expanded chest

- Palpation :

o Apex and trachea deviated to right site.

o Rt. Site of chest moving less.

- Percussion :

o normal percussion note.

- Ausclation:

o Crepitations all over

o Air entery is less on the right side.

e. In order to continue examination:

- Examine the back

f. I want To complete my examination by :

- ENT examination

- Check for Lymph node .

- Plot him in growth chart

- Peak flow meter.


Discussion

What is chronic supprative lung disease ?

- Chronic suppurative lung disease" CSLD" is used to describe a range of

lung diseases characterized by a chronic wet cough and progressive lung

damage.

- Criteria to diagnose chronic supperative lung disease :

chronic wet/productive cough 8wks/yr,

FTT ,

clubbing ,

cyanosis ,

Hyper expansion chest .

What is difference between chronic supperative lung disease and bronchiectasis?

1. Bronchiectasis : is a clinical syndrome in a child or adult with the chronic

symptoms and/or signs of wet and productive chest , and presence of

characteristic radiographic features on chest high-resolution computed

tomography (c-HRCT).

2. CSLD (clinical diagnosis) is a clinical syndrome in children with the

symptoms and/or signs of chronic wet and productive , but who lack a

radiographic diagnosis of bronchiectasis.

Forms / causes of Chronic supperative lung disease "CSLD":

- Cystic fibrosis.

- 1ry ciliary dyskinesia

- Bronchiectasis (due to any causes) : it is severe form of CSLD with

radiological changes.

- Lung abscess.

Patho physiology of bronchiectasis :

- Ch. Airway obstruction ⤍ Infection of Retained secretions ⤍ Dilated

airways.

- Mainly Lower Lobes then middle and follow by upper lobe.

- Presentation like cystic fibrosis.

Causes of bronchiectasis:

1. Immunodeficiency (hyper IgE syndrome , AIDS , IgA def. ,

hypogamaglobunemia).


2. cystic fibrosis.

3. 10 Ciliary Dyskiasia.

4. alfa 1 – antitrypsin def

5. F.B.

6. post Infection (Staph/ Strept / T.B./measles /pertusis)

7. Bronchiolitis Obliterance (R.S.V. / Pertussis / Adeno-V.)

8. Recurrent Aspiration (C.P. / T.O.F)

9. Asthma/tracheobronchomalacia.

10. Bronchial compression( airway lymphadenopathy /tumors).

11. lobar sequestration.

12. Rare syndromes : macleod's , klinefelter's , gardner's.

What are investigations incase for bronchectasis ?

- To confirm bronchectasis :

by C.XR.

Confirmed by High-Resolution C.T. ± Bronchoscopy.

- To search for aetiology :

C x-ray /Bronchoscopy ……foreign body

Sweat test …..cystic fibrosis

Immunoglobulins ……..imunodef.

Saccharin test ………..1ry ciliary dyskinesia.

Alfa 1 antitrpsin profile-phenotype.

Investigate for TB

Management of bronchectasis :

multidiscplenary approach

1. Pediatrician and pediatric pulmonolgist as team leader for :

Treatment of underlying pathology.

Antibiotic to treat infection

Bronchodilators.

Mucolytics (DNase)/hypertonic saline.

2. Physiotherapist : Regular Physiotherapy chest.( postural drainage , chest

PT by manual or vibrator).

3. Dietien who Increase caloric intake.

4. Chest surgeon : for Lobectomy : the left lower lobe is commonest site for

lobectomy because of poorest drainage .

5. Immunizations(influenza) .

6. education , aids compliance with treatment.


How you follow pt with bronchectasis ? F/Up for :

- Spirometery .

- Sputum culture

- Nutrition and growth.

- Cor-Pulmonale.


respiratory system examination

A.General Approach:

1. enter the room and introduce ur self to examiner and hello him and give him the

exam paper. then listen to the task.

2. wash ur hand.

3. introduce ur self both to the parents and child and take permission to examine the

child.


B.General look :

- Equipments and accessories (oxygen supplement/inhaler-nebulizor /

sputum pots/ pancreatic enzymes tabs / peak flow meter )

- Growth parameter , (Nutritional status).


- Status : RD / stridor,wheeze./ ill-well?

- Color : Cyanosis

C. Hands:-

- Clubbing .

- Cyanoses + Pallor .

- P.R.

- B.C.G. Scar.

D.Eyes : for pallor and jaundice.

E. Oral Cavity:

for central cyanosis.

Oral hygiene : Halitosis.(offensive odor ).

F.Chest :

- Inspection (from near and then go to bed foot ) for : 5 things

o Chest Deformity : pectus excavatum(depressed inside) / carinatum

(pigeon chest).

o hyper expansion. " increase anterioposterior diameter " ( look ant

and lateral)

o RR./ Signs of RD

Inter/subcostal recession


harisson sulci " fix indrawing of ant. Part of lower ribs" due to

excess use of diaphragm due to chronic obstructive lung

disease.

Using of accessory muscle , active ala nasie

Cyanosis.

o scars :

lateral thoracotomy (lobectomy , TOF ).

lateral thoracotomy + Abd. Scar (vactrel association).

scar of diaphragmatic hernia

Scar of porta cath.

Scar of lung biobsy .( may be postetior /lat. Near axilla).

o Chest movement (looking for asymmetry from bed foot) .

- Palpation : 4 THINGS:

o Chest expansion.(3 areas)for symmetry of movement.

o Apex : shifted

Dextrocardia (kartegener syndrome).

Pectus excavatum.

Scoliosis.

Cardiomegaly.

o Trachea :

Pleural effusion/pneumothorax…..push away

Collapse / fibrosis ……….pulled towards.

o Tactile vocal ferimtus : say 44 in arabic

Increased …….consolidation./Bronchopneumonia.

Decreased……collapse/pleural thickening.

Absent ……….. pleural effusion.

- Percussion: Ant + Post + Lat. (not done before 7 year)

o Resonant …….normal lung

o Hyperresonant …….pneumothorax /emphysema

o Dull ……. Consolidation/collapse/pleural thickening/ fibrosis

o Stony dull …….pleural effusion.

- Auscultation: 3 THINGS

o Breath sounds (intensity/type ):

Normal ……vesicular

Abnormal :

Bronchial :consildation /fibrosis

Diminished or absent : collapse /pleural

effusion /pneumothorax/emphysema


Prolong expiration : asthma /emphsema

o Added sounds : Creps + Wheezes + Rhonchi.

o Vocal resonance : 44 in Arabic (more sensitive than TVR)

G. back of the chest : for

- Inspection :

Deformity : spine for scoliosis and kyphosis.

Scar :

Scar for biobsy in fibrosing alvelitis.

Lateral thoracotomy Scar become more clear.

- Palpation: only for chest expansion.

- Percution : same as above

- Auscultation: same as above

H. To compete my Exam. I Would like to do

A. Abd (Liver edge) pushed by hyperexpanded chest./percuss for liver to R/O situs

inversus especially in dextrocardia.

B. E.N.T.: looking for polyps , and

C. check lymph nodes , and BCG scar.

D. check sputum pots.

E. Peak Flow Meter( Spirometery > 5yr.) .

F. plot weight and height in growth chart.

Physical signs in respiratory diseases:

Chest move Medistn shift Percussion note Vocal resona Breath sounds

Pleural efusion Decrease Push Stony dull Absent Absent /bronchial

Consolidation Decrease None Dull Increase Bronchial/crackles BPN

Collapse Decrease Pull Dull Decrease decreased

Fibrosis Decrease Pull Dull Increase Bronchial/crackles

Pneumothorax Decrease Push hyperresonant Decrease decreased


Common cases:-

⟡ Hyper expansion + Clubbing :{Ch. Superrative Lung D.}

- Bronchectasis (to other causes like immunodeficiency , …..).

- Cystic F

- 1ry ciliary dyskinesia.

- fibrosing alvelitis : SCAR IN THE BACK (for biopsy is the clue).

: Hyper expansion without clubbing ⟡

- Asthma .

- Bronchopulmonary Dysplasia " CLD".

- broncholitis.


Cystic Fibrosis

General observations:

- Growth parameters: Wasted – reduce muscle bulk , reduce subcutaneous fat.

- Equipments Around the bed : oxygen supplementation /Pancreatic tab /

sputum pot / nebulizer / peak flow meter /centeral line (port cath ) or

gastrostomy tube .

- No dysmorphic features.

- Status : ill/well-distress or not .

Hands:

- Clubbed .

- +/- Cyanosed (peripheral and central).

- Pulse

- RR.

Eyes:

- Palor

- Jaundice

Mouth:

- Central cyanosis

- Offensive odour.

Chest:

Inspection:

- Porta cath / gastrostomy tube in abdomen .

- tachypnoea

- Scars :thoracotomy

- Hyper-expanded Chest

Palpation :

- Apex beat in place

Auscultation:

- Creps , wheeze.

Inorder to continue examination:


- Back of chest

- Abdominal examination:

o Inspection: scar ( meconium illeus ) , gastrostomy , caput medusa

o Palpation : hepatosplenomegaly , palple fecal mass (distal intestinal

obstruction syndrome).

o Percution : ascites.

o Other : rectal prolapsed.


- To plot height and weight in appropriate growth chart.

- Measure his PEFR

- CVS : signs of right heart failure secondary to pulmonary HTN.

- Joints - ankle and knee : arthritis (1% due to circulating immune complex ).

- Look for insulin inj. sites

discussion

What is the cystic fibrosis ?

- It is a multisystem disorder charcterise by dysfunction of exocrine gland

resulting in chronic suppurative lung disease , malabsorption , chronic liver

disease and infertility.

What you can tell about genetic of cystic fibrosis ?

- A.R(Ch—7 ).

- Carrier. risk = 1/25

- Abnormal Cystic Fibrosis Trans membrane conductance Regulator (C.F.T.R.) ( c

AMP mediated chloride channel dysfunction ) causing inability to secrete

chloride , sodium and water from cells lining airway into airway lumen ,

leading to viscid secreation (in lungs , pancrease , biliary tract and

reproductive tract.) and opposite occurring in skin , chloride can't enter the

cell (leading to increase high sweat chloride ).

- δ F508 gene (common mutation –deletion of single phenylalanine – 75%).

How can we diagnose CF ?

- Antenatal chorionic villous sampling (@ 8 – 10 week) , aminocentesis (@ 16 –

18 week) for gene analysis (if family history of CF)

- Neonatal screening (not diagnostic) of C.F. is by:

Guthrie test looking for Immuno reactive Trypsin (I.R.T.)⤍ reflect

Pancreatic enzyme defect.

Stool for …..reflect pancreatic enzyme defect.


- Genetic analysis : need 2 mutation of CFTR gene . used for :

diagnosed cases ( to provide more information on geno/phenotype).

To confirm diagnosis when sweat test is equivocal."40-60".

- Sweat Test.: (definitive diagnosis) using pilocarpine iontophoresis.:

Test positive when 2 sweat chloride conc. < 60 mmol/l

Borderline …….40-60 ( if 2test borderline …..do gentic analysis)

Normal if less than 40

- Others test :

CBC , LFT , sputum C/S ,

chest X-ray to radiologically grading lung disease (if more than 20

indicate severe disease according to norman scoring system).

abdominal x-ray.

Criteria of diagnosis: criteria A + B :

- Criteria (a) CF finding , any of the following :

Positive family history , or

Positive neonatal screen ,or

Typical clinical features of CF.(FTT, recurrent chest infections ,

meconium ilus )

(Plus )

- Criteria ( b ) lab evidence for CFTR dysfunction ,any of the following :

2 Positive sweat test , or

2 CFTR gene mutations , or

Positive abnormal nasal potential difference "NPD".

Management of cystic fibrosis :

multidisciplinary approach with aim of prevent progression of lung disease ,

maintain adequate nutrition and growth :

A. Pediatrician and physiotherapist for Respiratory management :

1. Peaditrician for prescribe :

Antibiotic ttt : for acut Chest Infection , and prophylactic : they may

give every 3 month and (for this u may found PORT CATH)

Staph- colonization(comm. In infant) ⤍ Flucloxacillin

Pseudomonas colonization (comm. In children) ⤍ Nebulized

Tobramycin / Colomycin

acute infection …….oral ciprofloxacin or (iv ceftazidime +gentamycin)

Nebulized and inhaler treatment :

Neb. DNase to digest viscous DNA fragments.


Neb. Hypertonic Saline : reduce the viscosity of secretions.

Inhaled bronchodilater and inhaled steroids

2. Physiotherapist for :

Physiotherapy of chest.(twice daily )

Postural drainage .

percussion and vibration technique.

Exercise to strength the muscle and prevent re accumulation of

secretion.

B. Nutrition support ( by Dietien ) include :

- Nutrition → High Calorie & Protein. - NGT/gastrostomy tube can be

used.

- Pancreatic enzyme supplements (pancreatin= protease + amylase +

lipase ). + omeprazole for better work of pancreatic enzyme.

- Supplementation of Vit- A.D.E. and vit K (if prolong PT).

C. Psychological support : for patient and family.

D. treatment of complications :

asthma …….bronchdilators.

Allergic Broncho Pulmonary Aspergilosis …….steriods.

Constipation and DIOS ……laxatives and hydration

Diabetes …….insulin.

Liver disease …….ursodeoxycholic acid

Arthritis …….NSAIDS ,prednisolone.

Cor pulmonale ……heart lung transplantation.( indication for

transplant lung in advance lung disease )

E. Others :

- Gene Therapy.

- genetic counseling.( check for carrier parents by mouthwash test or

venepuncture for detection of mutation)

- isolation : to reduce spread of harmful organisms such as Burkholderia

cepacia (treated by meropenam).

What are complications of CF ?

1. RESPIRATORY :

Bacterial colonizations and infections – typically staphylococcus ,

hemophilus , pseudomonas

Cor pulmonale

Allergic bronchopulmonary aspergillosis

Acute sinisitus and nasal polp.


2. GIT / HEPATIC:

Pancreatic insufficiency – fat malabsorption

Meconium ileus in neonates , meconium plug.

Distal intestinal obstruction syndrome(DIOS) or meconium ileus

equivalent.

Rectal prolapsed (toddler presentation )

Chronic liver disease resulting from biliary cirrhosis.

3. ENDOCRINE :

IDDM

4. METABOLIC :

Hyponatraemic hypochloraemic metabolic alkalosis

5. GENITOURINARY:

Infertility in male caused by azoospermia due to bilateral absence of

vas deferens.

Subfertility in female.

what about prognosis of CF ?

a. 40 yrs median survival rate.

b. More than 90% mortality due to lung disease. cirhosis is 2nd life

threating condition.

c. Poor prognostic factors :

Female sex

Recurent Haemptosis

Cor- pulmonale

Pneumothorax

Multiple organ involvement.

Poor growth.


Clubbing

Stages of clubbing:

1. Stage 1 :Fluctuant and softing of the nail bed.

2. Stage 2 : Loss of nail fold angle then occurs (schamroth's sign) i.e loss of diamond

shape gap b/w finger.( increase angle b/w nail bed and proximal nail fold).

3. Stage 3 : Increase curvature of the nail bed.

4. Stage 4 : Enlargement of the distal phalanx vertically (anterio-posterior)

5. Stage 5 : enlargement of distal phalanx horizontally ( drum stick)

Causes of clubbing :

a. Respiratory :

- Bronchiectasis /CF 1

- 1ry ciliary dyskinesia 2

- Empyema/lung abscess

- Pulm. TB

- Fibrosing alveolitis

- Tumor of lung.

b. Cardiac :

- Cyanotic cong. Heart disease 3

- Bacterial endocarditis.

c. GIT:

- IBD (grohn's / UC ).

- Biliary cirrhosis

- Chronic active hepatitis

- GI lymphoma.

d. OTHER:

- Malignancy

- Idiopathic/familial.

- Familial acropathy.

Spirometery

FVC: ↓↓ in Restrictive Lung Disease.

FEV1 :↓↓ in Obstructive Medium & Large Air ways.

FEV1/FVC :

- ↓↓ in Obstructive Lung D.

- Normal in Restrictive Lung D.


PLEURAL EFFUSION

Clinical findings :

- General observation : may be distress

- Hands : no clubbing or cyanosis

- Chest : incase of rt. Site pleural effusion

Inspection :

Rt. site of chest ( effusion site ) moving less.

+/- scar of drainage

Palpation :

apex and trachea deviated to the left (away from site of effusion).

rt. Site of chest moving less.

Percussion :

stony dullness on rt. Site.

Auscultation :

absent breath sounds. (On rt. site ).

- Back examination .

- To complete examination :

ENT

BCG scar.

Check lymph nodes.


Presentation:

discussion

Causes of pleural effusion:

- transdutive : (less than 30 g/l , clear )

congestive heart failure ,

liver disease ,

nephrotic disease ,

hypo albuminemia.

- exudative :( protein more than 30 g/l , turbid)

infections : para pneumonia " common cause"., TB , sarcidosis.

Tumors : lung cancers , lymphoma , leukaemia.

post heart surgery.(chylus effusion).

- Haemorrhagic : bleeding disorder , trauma.,pulmonary embolism

What investigation ?

- CBC


- Inflammatory markers

- LFT , RFT , U/E.

- Tuberculin skin tes

- IMAGING :

C-X-ray

US chest : site , size /loculated or not.

CT scan to differentiate b/w effusion and empyema.

- Pleural fluid anylsis : for colour , protein , wbcs , sugar., cs , gram stain.

Transduate exudate

Color Clear Thick

Protein Less than 2.5 More than 2.5

WBCS

Sugar More than

LDH High

Gram stain

CS

- Pleural biobsy

What is management ? MDT

- peadtrician and peadatric pulmolongist for : treat the cause , treat acute

condition.

O2 to maintain saturation more than 94%.

Treat the cause : anti tuberculeous.

Antibiotic .: indicated in

Urokinase : loculated effusion and then drainage

- Thorax surgeon.

Pleruocentasis

Indication of drainage : moderate to large effusion , resp distress.,

- Dietien :


Tracheostomy (mb 292)

Clinical findings :

- General observation :

Equipments : trachestomy

Status : may be distress

DYSMORPHISM : syndromes associated with tracheostomy are piern

robin , treacher colins , goldenhar syndrome.

Growth : small for her age

- Hands :

- Chest :

Inspection :

Chest deformity.

Palpation :

.

Percussion :

.

Auscultation :

.

- To complete examination :

ENT

BCG SCAR.

Check lymph nodes.


Presentation:

DISCUSSION

Indications :

- Subglottic stenosis

- Trauma. LIKE RTA.

- Neuromuscular weakness like GBS

- Prolong intubation.

- Severe GERD.

- Severe sleep apnea

- Irradiation .


- Upper airway obstruction.

- Congenital airway problem.

Indication for tracheostomy (acute) :

- Angioneurtic oedema.: anaphlaxsis ,

- Severe infection : croup , epiglottis , and diphtheria.

Complications:

- obstruction by secretion , may cause hypoxia.

- Dislodge .

- Ulceration

- Infection

- Bleeding

- aspiration

- Arrhythmia (during suctioning).

- Air embolism.

- Structural damage to trachea.

- Pneumothorax./emphsema

Management of complications :

1. Blocked tracheostomy : Suction with saline.

2. Dislodge : reposition and fixation.

3. Bleeding : suction to prevent clots , compression , give transmic acid if no

obvious cause , put cuff tube to prevent aspiration of blood.

Types of tracheostomy :

- Cuff

- Uncuff

- Fenestrated.

What advice you will give to parents :

- Observe for displacement.

- Observe during feed .

- Suction before feed.

- Regular f/up

What you mean by decanulation ?

- We mean that to remove tracheostomy tube when 1ry condition is resolve.

And need bronchscopy to assess airway.


What is syndromes associated with tracheostomy ?

- Treacher colins

- Goldenhar

- Piern robin .

- Achondroplasia

- Jeune syndrome.


10 Ciliary Dyskinesia

Clinical examination :

General look :

- Wasted

- Small for his age

Hand :

- Clubbed

- Not cynosed

Chest :( from front and back )

- Inspection :

o +/-Scars : lateral thoracotomy "lobectomy " / Port-

A cath.

o Hyper-expanded Chest

o Chest moving less @site of lobectomy.

- Palpation :

o Dextrocardia (Kartagner's S. "50%").

o Chest moving less on site of lobectomy.

- Percussion:

o dull percussion note at lobectomy site.

- Auscultation:

o Creps (Bronchiectasis).

o Decrease air entery at lobectomy site.

In order to continue examination :

o Examine the back : scar will be more obvious

o Liver Exam.: (palpation and then percussion to check liver in

place).


- Plot on growth chart.

- E.N.T.

- ask the mother @ recurrent OM / sinusitis /polps.

Discussion


What is 1ry ciliary dyskinesia ?

- is AR - in which cilial movement is inefficient or absent.

What are clinical features of 1ry ciliary dyskinesia ?

- Bronchiectasis .

- Nasal Polyps .

- Ch. Sinusitis .

- Ch. Suppurative O.M .

- Male Infertility.

What is Kartagener 's syndrome ? triad of :

- Features of 1ry ciliary dyskineasia .(bronchectasis,…)

- Dextrocardia .

- Visceral situs inversus.

How you Diagnose 1ry ciliary dyskinesia ?

1. Saccharine Test " Bedside test for screening" (normal 11 min

needed before pt taste sweet test in the mouth up to < 1 Hr ). In

1ry ciliary took long time to taste.

2. Nasal exhaled Nitric Oxide measurement which is low in 1ry

Ciliary ( use in younger children 4 year )

3. Ciliary Brush Biopsy naso-ciliary brushings from turbinates is

assessed by :

- photometery ( giving a beat frequency ) ,

- E. microscopy will reveal ultra structual abnormalities.

What about prognosis of 1ry ciliary dyskinesia ?

- Normal life span if diagnosed early + managed properly

What is Management ? multidisplenary approach (pediatrian is the

team leader).

1. physiotherapist : for Regular Physiotherapy of chest.

2. dietitians : for high calorie diet.

3. Prophylactic A.B.

4. Bronchodilators.


5. Mucolytics (DNase).

6. Immunizations(influenza) .

7. education , aids compliance with treatment.

8. Treatment of complication and associations .

- ENT

- Obst. And gynecologist


Asthma

1. Introduce yourself to examiner .

2. Task: examine this child chest who present chronic cough since few monthes

back.

3. Wash your hand and introduce yourself to the mother.

4. General observation ( while you make rapport with the child) :

Growth : Looks well grown Appropriate for his age and sex.

Dysmorphism : No dysmorphic features

Status : Looks distress.

Equipments : Oxygen supplementation /ventolin inhaler./ peak flow

meter.

5. Hands :

No clubbing . or cyanosis.

Increase in RR/PR.

Tremor : due to use of bronchdialtor.

6. Head and neck :

Cushonoid face (steroid)

Oral candiasis ( steroid inhaler)

7. Chest examination :

Inspection:

No scar

Pectus cranitum/ harison sulci

Signs of respiratory distress

Hyperexpansion.

Chest moving equally .( from foot of bed).

Palpation: Not significant

Chest movement (by manual palpation.)

Apex beat

Trachea

Percusion:

Resonant note

Auscultation:

Wheeze and prolong expiration

8. In order to continue :

Back examination

9. To complete examination by :

ENT examination.

Check Peak flow meter



Ask mother if history of atopy and ecezema.

Check inhaler technique .

Discussion

What important questions to the parents ?

- Has device for prophlaxis?

- Has required oral steroids over last yr?

- Has missed time from school? Has missed sports at school?

- Has coughing waking during night

△△ :-

1. Bronchiectasis.

2. Bronchiolitis .

3. Bronchopulmonary Dysplasia

4. Foreign Body.

5. G.E.R.D.

6. T.O.F. Repaired.

7. congestive cardiac failure

8. vascular ring

9. lymphadenopathy (TB/sarcoidosis /hodgkin's)

how diagnose asthma ?

- Clinical diagnosis on history and examination.

- Peak flow meter.

- Lung function test.

How you support your diagnosis from history?

- Hx. Of atopy , ecezema.

Management:-

General measures:- educate parents and child about :

1. Inhaler technique and appropriate device

2. Avoid Cigarette smoking (active / passive)

3. Avoid Allergens (House dust / Animal dander)

4. Reduction of Wt.

5. Regular Exercise.


6. Use of daily peak flow diary.

Drug ttt:-

Acute attack

1st Line : for moderate asthma ( Salbutamol inhaler 6 puffs via spacer + Oral

Steroids)

2nd Line for severe asthma ( O2 by face mask + salbutamol inhaler/nebulizor +

ipretropium + steroid )

3rd line for life threatening attack. ( O2 I.V. Salbutamol/Aminophilline + I.V. Steroids ±

im adrenaline in anaphylaxis dose + Mg-sulphate)

Long – term treatment:( MB 268 ).

STEPS/AGE Less than 5y 5-12 year Above 12 year

Step1 Inhaled salbutamol.

Inhaled salbutamol

Step2 Add inhaled steroid /LRA.

Add inhaled steroid

Step3 Add steroid / LRA (acc to prev. step)

Add LABA and assess.

Step4 Refer to resp. paediatrion

Increase inhaled steroid

Step5 ……………… Oral steroid Refer.

LRA: Leukotrine Receptor Antagonist.

LABA : long acting B-agonist.

Delivery device: (MB 269)

Indication for referral to pulmonlogist :

1 ةحفص Prepared by dr.mohammed abdalla khidir

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