09. Congenital Disorder

8/10/2019 09. Congenital Disorder

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CONGINITAL

DISORDERS

Prof. Dr. Moh Hasan Machfoed, dr, Sp S(K), MS

Department of Neurology

School of Medicine

Airlangga UniversityDr. Soetomo Hospital Surabaya

Mobil Phone: 0812-353-8163E-mail: [email protected]


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2

TOPICS:

1. Hydrocephalus

2. Phenylketonuria PKU)

3. Spina Bifida


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HYDROCEPHALUS

Definition:Hydrocepalus is an increased volume of

CSF within the ventricles, which is

enlarged.


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PATHOPHYSIOLOGY

Tumor


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COMMON CAUSES

TYPESCOMMUNI

CATING

NON COMMUNI

CATING

CongenitalNeonatal

ventricular

haemorhage

-Aquaduct stenosis

or atresia

-Ependimal cyst

-Suprasellar arach

noid cyst-Chiari malformation

Acquired

-Meningitis

-Post nose, sinus

and midle ear

infection-Trauma (SAH)

-Posterior fossa tumor

-Colloid cyst (Vent III)

-Pineal region tumor

-Chronic ventriculitis-Acute IVH


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CLINICAL FEATURES

Infant ToddlerChildren and

adults

-Head enlargement

-Fontanelle tense

and bulging

-Scalp vein prominent

-Fever

-Vomiting-Sleepiness

-Setting sun eyes

-Seizzure

-Splitting sutures

-Crackpotpercussion note

-Head enlargement

-Fever

-Vomiting

-Headache

-Irritability/sleepiness

-Loss of previousabilities

-Fever

-Vomiting

-Headache

-Loss of co-

ordination/

balance-Decline in acad

performance


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DIAGNOSIS

Occipitofrontal circumference measures

USG when fontanele still open

Skull Ro split suture, pineal deviation, erotion of

dorsum sella, calcification in tumour and tuberculoma.

CT Scan or MRI Ventriculogram degree and site of the block.

DIFFERENTIAL DIAGNOSIS

Megancephaly (head enlargement without increased

intra cranial pressure)

Subarchnoid space enlargement

Hemimegancephali.

MANAGEMENT

Diuretics

Shunting


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Phenylketonuria

PKU)Phenylketonuria are heterogenous group

of conditions characterized by the

development of hyperphenylalaninemiain respon to a normal diet


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ETIOLOY

PKU inherited autosomal recessive

Mutation of phenylalanin hydroxilase Chromosome 12

Biochemical phenotype of PKU:

Absent or reduced of phenylalanin hydroxilase

Absent or reduced of dihydropteridine reductase (for

phenylalanine hydroxylation). Metabolic abnormality brain damage not clearly

understood.

Phenyl-

alanine O2Tyrosine

Phenylalanine hydroxylase

Phenyl-alanine O2

phenylalaninehydroxylation

dihydropteridine reductase


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Prevalence: 1/10.000

Progressive developmental delay IQ < 60

Seizzure

Microcephaly, spasticity,hyperreflexia, gait disturbance

Parkinsonism Eczema in 30% cases

Clinical features


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Diagnostic Procedures1. Urine + Ferrichloride green

2. Filter paper phenylalanin content byfluorometric or microbiologic technique

- Mature infant 24 hr after milk feeding

-

Prematures 5-7 day of life3. Phenylalanine level biochemical

phenotype of PKU

4. MRI demyelination (assosiated with

phenylalanin level at the time ofexamination).


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Low phenylalanin diet

Pregnant women +PKU lowphenylalanin diet

Low phenylalanin diet change

prognosis of PKU

Early treatment Prevent MR

TREATMENT

PROGNOSIS


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Low phenylalanin diet

The diet for PKU consists of aphenylalanine-free medical formula and

carefully measured amounts of fruits,

vegetables, bread, pasta, and cereals.

Many people who follow a low

phenylalanine (phe) food pattern eat

special low protein breads and pastas.

They are nearly free of phe, allow greaterfreedom in food choices, and provideenergy and variety in the food pattern.


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Spina

Bifida


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SPINA BIFIDAGroup of disorders

including failure of

development of

vertebral arches and

abnormalities in the

development ofstructures derived

from the neural tube& the meninges.

Neural tube defect (NTD): congenital anomaly,abnormal closure of the neural tube.

Incidence: 1-2 / 1000 live birth

More common in caucasian than asian/african


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- Previous pregnant

with NTD : 2-3%

- Patner with NTD:

2-3%

-

Type 1 DM: 1%

AETIOLOGY/

RISK FACTORS

- Epilepsy taking Carbamazepine or valproat: 1%

- Family history with NTD: 0.3-1%

- Obessity (weight>110kg): 0.2%

-Folate deficiency

Non medical risk factors: Pesticide, Desinfectan,

Radiation, Anesthesi, Hipertemia, Lead, Cigarrete


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PATHOPHYSIOLOGY

The neural groove is a shallow between the neural folds.

The neural folds are two longitudinal ridges that are caused by a folding up

of the ectoderm.

The groove gradually deepens as the neural folds become elevated, and

ultimately the folds meet and coalesce in the middle line and convert thegroove into a closed tube, the neural tube or canal, the ectodermal wall of

which forms the rudiment of the nervous system.

Before the neural groove is closed a ridge of ectodermal cells appears

along the prominent margin of each neural fold; this is termed the neural

crest or ganglion ridge, and from it the spinal and cranial nerve ganglia and

the ganglia of the sympathetic nervous system are developed.


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PATHOPHYSIOLOGY

Anencephali

Encephalocele

Spina bifida

The cephalic end of the neural groove exhibits several dilatations, which,

when the tube is closed, assume the form of three vesicles; these

constitute the three primary cerebral vesicles, and correspond

respectively to the future fore-brain (prosencephalon), mid-brain

(mesencephalon), and hind-brain (rhombencephalon). The walls of the vesicles are developed into the nervous tissue and

neuroglia of the brain, and their cavities are modified to form its ventricles.

The remainder of the tube forms the medulla spinalis or spinal cord; from

its ectodermal wall the nervous and neuroglial elements of the medulla

spinalis are developed while the cavity persists as the central canal.[2]
http://en.wikipedia.org/wiki/Neural_groovehttp://en.wikipedia.org/wiki/Neural_groove


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LINICAL DEVELOPMENT

Lamina

fussion

failure (Spinabifida

occulta)

Cystic swelling of dura and arachnoid protruding

through a defect in the vertebral arches (meningocele).

Cystic swelling lined by dura and arachnoid, protruding

through a defect in the vertebral arches which spinal

cord & nerve roots are carried out into the fundus of the

sac (myelomeningocele).


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LINICAL PRESENTATION

SPINA BIFIDA OCCULTA

Vertebrae replacing by connective tissues.

Vertebral defects can be detected by plain

x-ray. Neurologically is normal. 30% suffering

from LBP (when adult)

MENINGOCELE AND MYELOMENINGOCELE

Prognosis of meningocele is better than

myelomeningocele. The 2 conditions should be operated to

avoid infection/meningitis (especially for

opened cele)

SPINAL DYSRAPHISM (SD)

SD is a vertebral bulging accompanied byvertebral abnormality filled with intra dural

epidermoid cyct, lipoma or teratoma.

LBP, scoliosis, autonomic dysfunction due

to the spinal cord entrapment.

Operation is very helpful to support the

normal development of children.Spinal Dysraphism


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DIAGNOSIS

Pre natal

-

Maternal Serum AlphaFeto Protein (MS AFP)

increase 2.5 fold

- USG NTD (near 100%)

-Amniocentesis if MS

AFP and USG abnormal

Post natal- Physical examination abnormality in

posterior vertebra

- Radiologist defect vertebra.

AFP NTD indicator

norma y


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norma yascociation with

spina bifida

Agenesis corpus callosum, Dysmorphic ventrikel lateralis,

Abnormality of kidney, Congenital hearth disease, Face

abnormality.

PREVENTION:

Recomendation for early pregnancy folic acid suplementation:

Women without risk factors : 0.4mg/hr

High risk women : 4 mg/hr

TREATMENT:Surgery

Hydrocephalus, Chiari type II

(medulla displacement to

spinal cord, cerebel

hemisph herniation to

foram magnum + non-com

hydrocep),


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TERIMA KASIH

M H M 21 03 2013

A Happy Family

09. Congenital Disorder

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