[PPT]Neurology Board Review - School of Medicine - LSU … October... · Web viewNeurology Board...
Transcript of [PPT]Neurology Board Review - School of Medicine - LSU … October... · Web viewNeurology Board...
Neurology Board Review
October 27, 2011
Test Question
Pumpkins only come in one color, orange. A. True B. False
Meningitis
Epidemiology
Most common causes of bacterial meningitis in the developed world: Pneumococcus (4-5/100,000 children
annually) Meningococcus (2.5/100,000 children
annually) Introduction of Hib vaccine in 1988
decrease in invasive disease by 99%
Neonatal Disease
Group B Strep Predominant neonatal meningitis pathogen Maternal genital tract is pathogen source of
both early and late disease IAP▪ Before:▪ 1-4 neonatal infections/1,000 live births▪ 75% with early-onset disease
▪ After:▪ 80% reduction in early-onset disease▪ No change in late-onset disease
Neonatal Disease
Group B Strep Early disease (1st 7 days after birth)▪ Sepsis▪ PNA▪ Less commonly meningitis (5-10% cases)
Late Disease (3-4 wks of age)▪ Bacteremia▪ Meningitis▪ Less commonly skeletal infections, adenitis,
cellulitis
Neonatal Disease
Gram Negative Disease Rare! E. Coli most common Sources:▪ Maternal genital tract▪ Nosocomial infection
Risk factors:▪ Prematurity▪ Maternal intrapartum infection▪ PROM
Neonatal Disease
Herpes Simplex Transmission via infected birth canal▪ 75% caused by HSV-2▪ >50% infection rate with active primary infection▪ <5% infection rate with recurrent genital herpes
Presentation:▪ Skin, eyes, mucous membranes▪ CNS disease▪ Disseminated disease
Often NO maternal history or clinical evidence
Neonatal Disease
Listeria Maternal infection from food-borne source▪ Unpasteurized cheese/ milk▪ Prepared ready-to-eat meats▪ Undercooked poultry▪ Unwashed raw veges
Can precipitate abortion, preterm delivery, or early-onset disease
Early onset disease▪ Sepsis▪ Papular truncal rash
Neonatal Disease
Listeria (con’t) Late onset disease ▪ Asymptomatic vaginal or fecal carriage▪ Exposure during delivery Meningitis
Non-Neonatal Bacterial Pathogens Streptococcus pneumoniae
Leading pathogen causing meningitis in infants and young children in developed countries
Children <1yo highest risk Pathogenesis▪ Nasopharyngeal colonization bacteremia seeding
of the choroid plexus meningitis (7-valent) conjugate vaccine introduction in
2000▪ Decrease in invasive pneumococcal infections by
vaccine-serogroup isolates by 75% (age <24mos)
Non-Neonatal Bacterial Pathogens Neisseria meningitidis
Occurs in otherwise healthy individuals▪ Highest age-specific incidence: <1 yo▪ 2/3 of cases seen in children <5 yo
Meningitis most common clinical presentation▪ Fulminant presentation with high fatality
98% sporadic cases, however outbreaks do occur▪ 1/3 community based▪ 2/3 in colleges, primary/secondary schools, and
nursing homes
Question #1
All of the following increase risk of colonization with Neisseria meningitidis EXCEPT for: A. Exposure to active or passive smoking B. Concomitant URI C. Crowding D. Recent antibiotic use E. Pneumococcal carriage
Non-Neonatal Bacterial Pathogens Neisseria meningitidis (con’t)
Nasopharyngeal carriage/ colonization infection▪ Increased risk of colonization▪ Crowding▪ Exposure to active and passive smoking▪ Pneumococcal carriage▪ Concomitant URI (esp. Flu A)
▪ Increased risk of infection▪ Anatomic/ functional asplenia▪ Terminal complement deficiency▪ Lab exposure▪ Travel to epidemic/ hyperendemic regions
Less Common Bacterial Pathogens Non-neonatal Gram-negative bacilli
Nosocomial in origin Most patients have predisposing factors▪ Neurosurgery/ head trauma within the past month▪ Presence of a neurosurgical device▪ CSF leak
Mycobacterium tuberculosis Most common cause of meningtits in sub-Saharan
Africa▪ Likely due to the high prevalence of HIV
In US, most cases arise in urban cities in lower-income groups▪ ¼ of pediatric cases occur in foreign-born children (Mexico)
Less Common Bacterial Pathogens Mycobacterium tuberculosis (con’t)
Tends to be a complication of primary infection in child <5 yo
Droplet inhalation dissemination from the lungs to lymphatics and bloodstream primary infection
Borrelia burgdorferi Usually affects children living in Lyme-endemic
regions▪ Southern New England▪ Eastern mid-Atlantic▪ Upper Midwest▪ Northern California
Less Common Bacterial Pathogens Borrelia burgdorferi (con’t)
Transmission▪ Deer tick (Ixodes scapularis or pacificus)▪ May through August
Chronic basilar meningitis occurs most commonly at the early disseminated phase of infection
Rickettsia rickettsii Cases reported in all states except for Maine, Alaska,
and Hawaii Transmission▪ Tick (Dermacentor variabilis or andersoni)▪ May through August
Less Common Bacterial Pathogens Rickettsia rickettsii
Diagnosis most often made in children <15 yo
More likely to cause encephalopathic signs and symptoms
Worse outcome for children diagnosed after 5 days of symptoms
Aseptic Meningitis
Syndrome of meningeal inflammation in which common bacterial pathogens have not been identified
Definitive agent established in 1 out of 4 patients Most common agents are viral▪ Enteroviruses
Aseptic Meningitis
Enteroviruses Transmission is fecal-oral Most children not severely ill▪ Non-specific febrile illness▪ +/- Meningeal signs
Benign course without sequelae Noninfectious aseptic meningitis
Vasculitis (Kawasaki, SLE) Drugs (NSAIDs, IVIg, Bactrim)
Clinical Manifestations
INFANTS < 1MO OLD
Fever Hypothermia Lethargy Irritability Poor feeding Vomiting Apnea Seizures Sepsis-like picture
INFANTS > 1 MO OLD AND YOUNG CHILDREN
Fever Lethargy Irritability Mental status
changes* Vomiting* Seizures*
Clinical Manifestations
OLDER CHILDREN
Malaise Myalgia HA Photophobia Neck stiffness Anorexia Nausea Fulminant sepsis/
multi-organ involvement
History
Question #2 An 11 yo male presents in July with a 10 day history of
fever, myalgias and HA. Mom also mentions that he has a rash over his right calf. Over the past 1-2 days, his HA has been worsening and he has been complaining of a stiff neck and sensitivity to light. On PE, he has positive Kernig and Brudzinski signs along impairment of right eye abduction. The most likely cause of this boy’s symptoms is: A. Coxsackievirus B. Herpes Simplex C. Borrelia burgdorferi D. Rickettsia rickettsii E. Mycobaterium tuberculosis
Physical Exam Initial evaluation
Vital signs Cardiopulmonary status Assessment of consciousness (GCS)
Complete physical exam Fontanelle in infants palpated in the sitting
position Head circumference Meningismus▪ Infants: paradoxic irritability▪ Older child: positive Kernig and Brudzinski signs
Kernig Sign
Brudzinski Sign
Physical Exam Complete physical exam (con’t)
Funduscopic exam Cranial nerves▪ CN 3, 4, or 6 palsy seen with Lyme and bacterial
meningitis Cardiac▪ JVD myocarditis, pericardial effusion
Joints▪ Involvement in GBS and meningococcal disease
Skin▪ Rashes (viral exanthem, erythema migrans, petechiae/
purpura, vesicles)
Question #3 A 5 yo female arrives in the ER with a 2 day history of
fever, irritability and poor PO intake. This afternoon, her mother had difficulty waking her from her nap. She also noticed the appearance of a dark rash on her extremities, so she immediately brought her to the ED. You suspect meningococcal disease. All of the following would be a contraindication to immediate LP EXCEPT: A. PTT of 50 (normal <35.9) B. Focal neurologic findings on exam C. BP of 50/30 with a RR of 10 D. Fever of 104F E. Coma
Diagnosis LUMBAR PUNCTURE
Except if contraindicated:▪ Focal neurologic deficits▪ Signs of increased ICP▪ Uncorrected coagulopathy▪ Cardiopulmonary compromise
CSF studies▪ Gram stain ▪ Culture▪ Cell count/ differential▪ Glucose▪ Protein
Diagnosis
Electrolytes Hyponatremia (SIADH) Serum glucose (compare to CSF glucose)
CBC and Coags Leukopenia, thrombocytopenia, and
coagulopathy seen in meningococcal and rickettsial infection
+/- Leukocytosis with pneumococcal infection
Blood culture
CSF Analysis
Question #4 A 5 yo F from Mexico presents with a history
and PE consistent with meningitis. Due to her CSF findings and country of origin, TB meningitis is suspected. TST is placed and is positive. She received the BCG vaccine before she moved to the US. Your medical student asks if the positive TST is a result of the BCG vaccination. Your response is: A. Yes, the BCG vaccine frequently causes false
positive TSTs B. No, a positive TST result is more likely to represent
infection
Traumatic Lumbar Puncture Frankly bloody CSF should NOT be
used to make clinical decisions!! Repeat LP should be attempted in these
situations Do not “correct” CSF for presence of RBC
1 WBC≠ 1000 RBC
Man
agem
ent
Antibiotic Choice and Duration Infants <2mos
Amipcillin (300mg/kg/d divided q6) PLUS Cefotaxime (200-300mg/kg/d divided
q6) +/- Acyclovir (60mg/kg/d divided q8)▪ If HSV is a concern
Vancomycin (60mg/kg/d divided q6) ▪ If gram stain suggests pneumococcus in
young infants
Antibiotic Choice and Duration Infants and children >2mo
Vancomycin (60 mg/kg/d divided q6) PLUS Ceftriaxone (100mg/kg/d divided q12-24) OR Cefotaxime (200-300mg/kg/d divided q6)
Duration Meningococcus: 7 days Listeria, GBS, pneumococcus: 14 days Lyme: 14-28 days Gram negative enteric bacilli: minimum of 21
days HSV: 21 days
Adjunctive Corticosteroids?? Data suggests that for children
beyond neonatal age groups, corticosteroids may be beneficial for Hib meningitis and could be considered in pneumococcal meningitis
Dexamethasone 0.6mg/kg/d divided q6 for 4 days First dose before or concurrently with
Abx Not recommended with viral
meningitis
Complications Shock
70% of patients with bacterial meningitis require fluid resuscitation
Seizures Occur in 20-30% of patients with bacterial
meningitis within the first 72h of illness Focal complications
CN palsy, monoparesis, hemiparesis, gaze preference, visual field defects, ataxia, and aphagia
Usually the result of vascular injury
Complications
Cerebral edema Increased intracellular fluid volume
increased ICP Treatment (depends on severity)▪ Fluid restriction▪ Diuretics▪ Mannitol▪ Corticosteroids
Subdural effusion If symptomatic or empyema suspected
drainage
Complications
SIADH True incidence unclear (7-89%) Diagnosis suggested by:▪ Na< 135▪ Serum osm <270▪ Urine osm >2x serum osm▪ UNa >30▪ Absence of clinical findings of hypovolemia or
dehydration Initial treatment: moderate fluid restriction
Prophylaxis for Exposures Meningococcus
Who?▪ Household contacts (500-800x higher risk than
general population!!)▪ Children who attend child care or nursery school with
the index case▪ Those with intimate contact 7 days before illness▪ Passengers seated next to an infected individual on
an airline flight >8h What?▪ Children: Rifampin▪ Adults: Rifampin, Cipro, Ceftriaxone
Prophylaxis for Exposures Hib
Who?▪ Household un/underimmunized children <4yo▪ Household immunocompromised individuals▪ Attendees/ staff at a child care center if more
than 2 cases of invasive Hib occur within 60 days
What?▪ Rifampin
Prognosis 5-10% of children with bacterial meningitis
die Neonates:▪ GBS 10%▪ E.Coli 20%
• Neurologic sequelae (highest in pneumococcal disease) Intellectual defecits (IQ<70) Hydrocephalus Spacticity Blindness
Prognosis
Neurologic sequelae (con’t) Hearing loss▪ Occurs in 30%▪ Can be uni/bilateral▪ ALL children who have bacterial meningitis
should have their hearing evaluated before d/c
Developmental F/U necessary for all children with meningitis!
Seizures
Intro
Seizures are abnormal and excessive discharge of neurons, usually accompanied by behavioral or sensorimotor manifestations
Epilepsy – occurrence of 2 or more unprovoked seizures 50% of those with epilepsy have learning
difficulties 30 to 50% have mental health and
behavioral issues
Diagnosis and Causes
Start at the very beginning….a very good place to start
History▪ Development, Fam hx, describe the event and
surrounding events, precipitating factors, medications, etc
Physical▪ Global development, dysmorphic features,
neurocutaneous skin findings, head circumference, thorough neuro exam!, etc
Is it a seizure?
Causes of Epilepsy
65 to 70% remain unknown “Idiopathic” – normal physical and
development, no cause found after complete investigation
“Probably symptomatic or cryptogenic” – signs of abnormal brain function
“Symptomatic” – result of an identifiable brain lesion
Infants Children AdolescentsBrain
malformationMetabolic disease
Mesial temporal sclerosis
Infections Developmental diseases
Degenerative diseases
Metabolic disorders
Idiopathic/genetic
syndromes
Trauma
Hypoxic-ischemic
encephalopathy
Infections Tumors
Intracranial hemorrhage
Cortical dysplasias
Familial neonatal
convulsions
Degenerative disorders
Causes by Age
Classification of Epileptic Seizures Partial seizures – abnormal activation of a
limited number of neurons; often can localize the focus Preceded by an aura Automatisms Autonomic symptoms Motor signs Psychic symptoms 1) Simple partial 2) Complex partial = associated with loss of
consciousness
Classification of Epileptic Seizures Generalized seizures – caused by a
global synchronous activation of neurons and always impairs consciousness 1) Absence seizures = frequent, brief, abrupt
losses of consciousness, often accompanied by eyelid flickering; end abruptly with resumption of normal activity▪ EEG = 3-Hz spike and wave, symmetric and
synchronous▪ Can be induced by hyperventilation or photic
stimulation
Classification of Epileptic Seizures
2) Myoclonic seizures – brief contractions of a muscle, muscle group, or several muscle groups caused by a cortical discharge▪ Action, noise, startle, photic stimulation or
percussion can provoke
3) Clonic seizures – jerking that often is asymmetric and irregular▪ Occur more in neonate, infants, or young
children
Classification of Epileptic Seizures
4) Tonic seizures – sustained muscle contraction without a clonic phase▪ Occur at any age▪ Assoc. with diffuse cerebral damage
5) Tonic-clonic (grand mal) – 3 phases:▪ Tonic = lasts 10 to 30 seconds▪ Clonic = lasts 30 to 60 seconds▪ Postictal = a state of confusion and fatigue
for 2 to 30 minutes; diffuse slowing on EEG
Question #5 You get a call in the middle of the night from
concerned parents who just witnessed their 5 year-old son screaming in bed, and when they got to his room, his right arm and hand were shaking and his eyes rolled back. The episode lasted 30 seconds, and then he was confused with drooling and had trouble talking for the next 5 to 10 minutes.
The MOST likely diagnosis is:A. Benign rolandic epilepsyB. Juvenille myoclonic epilepsyC. Frontal lobe epilepsyD. Night terrorsE. Pseudoseizures
Epileptic Syndromes Major Focal Epilepsies
1) Benign partial epilepsy (benign rolandic epilepsy) ▪ Most common partial epilepsy in children▪ Ages 3 to 13▪ Tonic or clonic activity with paresthesias of the lower
face (often unilateral and associated with drooling and dysarthria)
▪ Occur at night, activated by sleep▪ Rarely generalize▪ EEG = centrotemporal sharp waves▪ Perform neuroimaging to rule outparasagittal tumor
Major Focal Epilepsies 2) Temporal lobe
epilepsy – partial seizures in childhood, followed by a seizure free period until adolescence, when seizures reappear▪ 35% have a history of
febrile seizures▪ Preceded by aura,
psychic symptoms, or automatisms
Major Focal Epilepsies 3) Frontal lobe epilepsy – short, frequent partial
seizures that tend to occur in clusters, mostly at night▪ Bizarre automatisms, jacksonian motor seizures▪ Complex partial status epilepticus▪ Todd’s paralysis
4) Parietal lobe epilepsy – simple partial seizures with somatosensory symptoms such as paresthesias, apraxia, and distortion of body image; visual phenomena
5) Occipital lobe epilepsy - simple elementary visual symptoms (patterns or flashes of light or colors)
Major Generalized Idiopathic Epilepsy Syndromes 1) Childhood absence epilepsy –
numerous seizures occur every day Ages 3 to 10 3-Hz spike-and-wave on EEG Photic stim and hyperventilation Tx with ethosuximide
2) Juvenille absence epilepsy – less frequent seizures Puberty 80% have tonic-clonic seizures as well
Major Generalized Idiopathic Epilepsy Syndromes 3) Juvenille myoclonic epilepsy (Janz
syndrome) – upper limb myoclonic jerks that occur after waking (“morning myoclonus”); also have generalized tonic-clonic Age 8 to 18 Sleep deprivation, alcohol,
hyperventilation, and photosensitivity are triggers
+ fam hx in 40%
Major Generalized Idiopathic Epilepsy Syndromes 4) Benign neonatal convulsions –
short tonic, clonic, or apneic seizures that begin 2 to 5 days after birth in normal infants 15% of patients develop epilepsy in the
future Familial cases – seizures occur on 2nd or
3rd day
Question #6 You are seeing a 6-month-old female in clinic for
“strange episodes” that the mother has noticed over the past few weeks. She describes them as her head dropping to her chest and sudden flexing of her arms. These episodes occur several times a day, but mostly right after she wakes up.
Which of the following are you most likely to tell the mother regarding the prognosis of this condition?A. It will resolve on its own and her daughter will have no
cognitive deficitsB. Medication has no effect on cognitive outcomeC. There is no likely known causeD. Her daughter has a high chance of developing an epileptic
syndromeE. She should avoid having her daughter near flashing lights
Major Generalized Symptomatic Epilepsy Syndromes 1) Infantile spasms – symmetric, bilateral, brief, and
sudden contractions of the axial muscle groups Age 5 to 12 months Clusters soon after awakening or on falling asleep Sudden loud noises or tactile stimulation but not photic
stimulation may precipitate them Can be up to several hundred a day EEG = hypsarrhythmia 75% are symptomatic (brain lesion) Tuberous sclerosis is single most common cause Early control with meds is assoc. with better outcome 60% develop other epileptic syndromes (ie, Lennox-
Gastaut) Significant neurocognitive sequelae
Major Generalized Symptomatic Epilepsy Syndromes
2) Lennox-Gastaut syndrome – diffuse slow spikes and waves on EEG, mental retardation, and multiple types of generalized seizures (absence, tonic, and atonic) Age 2 to 8 years Poor prognosis for neurocognitive
outcome and seizure control IQ deteriorates EEG pattern tends to resolve
Question #7 A 14-month-old male is seen in the ER
because he developed a fever of 103° F this morning and subsequently was found in his crib after naptime with his eyes rolled back, right arm jerking, and unresponsive. The episode lasted for 3 minutes.
Of the following, which is closest to his risk of developing future epilepsy:A. 0%B. 1%C. 30%D. 15%E. 9%
Major Generalized Symptomatic Epilepsy Syndromes
3) Febrile seizures
Major Generalized Symptomatic Epilepsy Syndromes
Febrile seizures continued…. Occur in 5% of children between 3 months and 6 years Can recur in up to 30 to 50%, especially if the
first seizure occurred during the 1st year of life No significant increase in risk of future epilepsy
(1% vs. 0.5% in normal kids without febrile sz)▪ However, 2 to 13% of kids with atypical febrile
seizures subsequently develop epilepsy Usually no ancillary testing is required
Status epilepticus
Neurologic emergency Continuous seizure or the occurrence of
serial seizures, between which there is no return to consciousness, lasting more than 30 minutes
May potentially harm the brain Oxygen deficiency causing cell damage
Mortality is 5% Always measure glucose, electrolytes,
calcium, and magnesium
Question #8 You are working the night shift in the ER and a mother
brings in her 5 year-old daughter due to difficulty walking since this morning. She has been complaining of some tingling in her legs. On physical exam, she is afebrile and her vitals are stable. The remainder of her exam is normal except she has an ataxic gait, muscle strength is 3/5 in upper and lower extremities, and you are unable to elicit deep tendon reflexes. Upon further history, mom states that she was treated with abx 2 weeks ago for diarrhea.
Of the following, the MOST likely etiology for this girl’s symptoms is:A. SalmonellaB. ShigellaC. Clostridium difficileD. Campylobacter jejuniE. Rotavirus
Guillain-Barre Syndrome
Pathophysiology
Immune-mediated condition of the peripheral nervous system usually presenting as a rapidly evolving, symmetric polyradiculoneruopathy
Preceded by URI or AGE Multi-focal areas of inflammation
(spinal roots and peripheral nerves), followed by demyelination
Pathophysiology Viruses most commonly involved:
CMV EBV Herpesviruses HIV
Bacterial agents Campylobacter jejuni* Typhoid Paratyphoid Listeria Mycoplasma pneumoniae
Other events Surgery Vaccines
Differential Diagnosis CNS Disease
Meningitis Encephalopathy Neoplasm
Peripheral nervous system disorders Drug toxicities GBS Tick paralysis Diptheria
Neuromuscular junction/muscle disorders Botulism Myasthenia gravis Neuromuscular blocking agents Acute inflammatory myopathies Metabolic myopathies
Clinical Features Progressive ascending weakness Symmetrically decreased deep tendon reflexes Occurs in all age groups
Rare in infants Develops over hours to weeks Signs and symptoms
Flaccid weakness Ataxia Sensory disturbance Autonomic dysfunction▪ Tachycardia, bradycardia, HTN, orthostasis
Cranial nerve involvement (33%)▪ Miller-Fisher = opthalmoplegia, areflexia, ataxia
Question #9 Which of the following is the typical CSF
analysis seen in Guillain-Barre syndrome?A. Elevated protein, cell count >50 cells/mm3 mostly
lymphocytesB. Elevated protein, cell count >50 cells/mm3 mostly
neutrophilsC. Decreased protein, cell count <10 cells/mm3
mostly monocytesD. Elevated protein, cell count <10 cells/mm3 mostly
monocytesE. Decreased protein, cell count >50 cells/mm3
mostly monocytes
Diagnosis CSF
Elevated protein (80 to 200 mg/dL) Cell count < 10 cells/mm3, predominantly
monocytes Nerve conduction studies
Absent or reduced F waves Absent nerve action potentials Prolonged latencies
EMG Muscle denervation
Management Supportive 20% require mechanical ventilation
Respiratory compromise may occur rapidly Airway care and CPT
IVIG Daily for 5 days Shortens duration and severity
Plasmapheresis 4 double-volume plasma exchanges
No role for steroids
Question #10 A mother brings in her 4 yo boy secondary to
complaints of frequent falling. She attributes this to his toe-walking and his large calves. He falls while walking toward the exam table, and you notice that he has to use his hands to climb up his legs in order to get back into a standing position. The most appropriate INITIAL diagnostic test for this boy would be: A. Muscle biopsy B. Creatine kinase (CK) C. Electromyography D. Gene testing E. Lumbar puncture
Duchenne muscular dystrophy
Question #11
What is the mode of inheritance for DMD? A. X-linked recessive B. X-linked dominant C. Autosomal recessive D. Autosomal dominant E. Mitochondreal
Pathogenesis
X-lined recessive mutation in the gene that encodes dystrophin Can be a deletion, point mutation or
duplication Dystrophin bridges the inner surface
of the sarcolemma to the protein F-actin Without dystrophin, glycoprotein
structure of the sarcolemma in less stable muscle damage initiation of an inflammatory cascade further muscle damage, necrosis and fibrosis
Pathogenesis
Proximal muscles involved first Skeletal and cardiac muscle affected
primarily
Clinical Features Progressive and predictable loss of muscle
function Muscles affected at birth▪ Boys may walk later than siblings (but by 18mos)▪ Toe-walking common▪ Running, jumping and hopping are awkward and
difficult Clinical symptoms manifest b/t 3-5 yo▪ Lumbar lordosis▪ Trendelenburg gait▪ Fall more and have difficulty rising▪ Gower manuver
Gower Manuver
Clinical Features Progressive and predictable loss of muscle
function (con’t) Wheelchairs full time b/t 8-12 yo Spinal curvature >20 degrees ~3-4 yrs after losing
ambulation Pulmonary function begins to deteriorate @ 9-11
yrs old▪ 5-10% decline in FVC yearly
Upper extremity function declines in the mid-teens ▪ Lost ability to care for self
Die in late teens/ early 20s secondary to cardiac and/or respiratory complications
Clinical Features
Increased risk for cognitive deficits Motor and language delay Poor attention span Immaturity Features of OCD
Laboratory Evaluation
Biochemical analysis Increased creatine kinase ▪ Causes:▪ Trauma▪ Inflammatory muscle disorders▪ Idiopathic myositis▪ RA▪ SMA▪ Muscular dystrophies*
Increased AST, ALT and LDH▪ GGT to help distinguish b/t a hepatic and muscle
source
Laboratory Evaluation
Electromyography Changes non-specific and not helpful in
establishing the diagnosis of DMD DNA analysis
~65% of boys with DMD have gene deletion
Additional 5-10% have a duplication These boys do NOT require muscle
biopsy to confirm diagnosis!▪ Remaining 10-20%, however, do require
muscle biopsy
Laboratory Evaluation
Muscle Biopsy Histologic changes depend on age of boy
and muscle selected▪ Young age muscle less affected (localized
areas of inflammation and muscle degeneration/ regeneration)▪ Older age muscle fibers replaced by fibrous
and fatty tissue Immunohistochemical staining shows
that dystrophin is absent or nearly absent
Management Initial goals:
Genetic counseling Psychosocial support for the patient and family
Rehabilitation Early goals:▪ Promoting mobility▪ Swimming▪ Biking
▪ Maintaining good ankle position ▪ PT▪ Orthotic devices
▪ School accommodations
Management Rehabilitation (con’t)
As mobility declines:▪ Watch for weight gain/ obesity▪ Mobility equipment and accessibility for home and school▪ Transportation▪ OT for help with ADLs
Eventually, the team expands to include▪ Cardiology▪ Pulmonology▪ Ortho▪ GI▪ Nutrition
Question #12 You are seeing an 8 yo obese M with DMD in
your office. He has a rehabilitation team that works with him three times per week, but Mom wants to know if there are any medications that may help improve her son’s ambulation and not cause weight gain. You recommend: A. Baclofen B. Prednisone C. Lorazepam D. Deflazacort E. Phenytoin
Management Corticosteroids
Delay the progression of muscle weakness Two choices:▪ Prednisone▪ Efficacious but is associated with excessive weight gain
▪ Deflazacort▪ Equally efficacious but not associated with weight gain
Long term benefits▪ Improved ambulation▪ Preservation of pulmonary and cardiac function▪ Reduction in the incidence of scoliosis▪ Maintenance of arm function
Management
Corticosteroids (con’t) Side Effects (deflazacort)▪ Increase in appetite▪ Decrease in height▪ Asymptomatic posterior, subcapsular
cataracts▪ Reduced bone mineral density▪ No significantly increased risk of long bone fractures
HTN, glucosuria, increased infection risk or gastric ulcers not seen
Pediatric head injury
Scalp hematomas and lacerations Uncommon to lose enough blood to
cause shock or hypovolemia from a lac
Cephalohematoma Subperiosteal Follows suture lines
Subgaleal hematoma Can cross suture lines and lead to significant blood loss and
hypovolemia
Skull Fractures
Linear, depressed, or basilar CT scan preferred over x-ray if brain
injury is suspected 50% of brain injuries occur in the
absence of skull fractures
Linear Skull Fracture 75% of all skull
fractures Pain control and
outpatient observation
< 2years, neurosurg consult and follow-up If < 1 year, sign of
possible abuse A “growing fracture” –
lepomeningeal cyst or brain tissue extends through the fracture
Depressed Skull Fracture Occur with higher
impact forces Require neurosurg
evaluation Elevation when the
fragment is depressed greater than skull thickness
Higher risk for developing seizures Often on AEDs
prophylactically
Basilar Skull Fracture Battle sign –
ecchymoses behind the ear
Hemotympanum (fracture of the temporal bone)
Racoon eyes – periorbital ecchymoses
CSF leak Head CT should be
performed Require obs in the
hospital
Question #13
A 14-year-old male hit his head on a tree trunk during a skiing accident 6 hours ago. He had no loss of consciousness and has been stable until now. He suddenly becomes lethargic and unable to follow commands.
Question #13
His head CT shows→
The MOST likely diagnosis is:A. Epidural
hematomaB. Subdural
hematomaC. Subarachnoid
hematomaD. Arteriovenous
malformationE. Cerebral contusion
Intracranial injuries Occur in 6 to 30% of children who present
with blunt trauma Epidural hematoma
Rapid hemorrhage Tears of meningeal arteries or veins Convex Assoc. with temporal bone fractures Lucent period for several hours, followed by
rapid deterioration in mental status Close obs and neurosurg consult Prognosis is good after surgical evacuation(no
cerebral damage)
Intracranial injuries
Subdural hematomas More common in
children Tears of bridging
veins Concave If unconscious,
immediate surgical intervention
Intracranial injuries
Diffuse axonal injury Rapid acceleration or deceleration
injuries MVA, falls, severe shaking Should be suspected if presents with
diffuse subarachnoid bleeding and cerebral edema
Develop ICP
Intracranial injuries
Traumatic Brain Injury Primary insult – occurs at time of impact Secondary insult – occurs 1 to 5 days
later▪ Significant cause of morbidity
Management▪ Maintenance of patient’s PaO2 at >
100mmHg▪ Systolic BP >5th percentile to prevent poor
cerebral perfusion
Concussion Trauma-induced alteration in mental
status with or without loss of consciousness
Concussion
Generally do not have structural damage to the brain
Neuroimaging studies are normal Postconcussion syndrome =
headaches, depression, anxiety, behavioral problems, dizziness, amnesia, irritability, hyperactivity, and sleep difficulties
Concussion
Second impact syndrome A patient is still symptomatic from
concussion, and receives a second concussion
Can develop diffuse axonal injury Cerebral edema Brain herniation Coma Death
Question #14 A 15-year-old male sustains a head injury while playing
football in a Saturday night game. He was nonresponsive for 3 minutes. Over the next hour, he complained of headache and dizziness. You see him 3 hours later in the ER and he has returned to baseline. He has no previous head injury. He asks you when he can play in the game next Saturday, because it’s a biggest game of the season and he invited a girl to come watch him play.
Your BEST response is:A. He doesn’t have to wait that long, he can suit up and
practice tomorrowB. He should refrain from any contact sports in the futureC. He can play in the game if asymptomatic at practice on
FridayD. He can play in the game if his CT scan is normalE. He can play in a game again after a 1-week symptom free
period 1 month from now
Triage of Head InjuryQuestions to AskCry immediately
“goose egg” or scalp hematomaBleeding or fluid from nose or ear
Fall greater than 3 feetAge of child
History of recent head injury
Call me back if…Change in mental status
SeizuresPersistent or increasing headache
Protracted vomiting (more than 2 to 3 times)
Hospital Care
Immobilize cervical spine Obtain GCS score
<9- intubate immediately Place orogastric tube
NG contraindicated because could possibly penetrate base of skull
Normal ventilation Keep CO2 35mmHg (prevent
vasoconstriction and to maintain adequate cerebral perfusion)
Hospital Care
Fluid management Maintain systolic blood pressure in the
normal range with 20cc/kg of isotonic crystalloid in boluses to prevent hypotension
If BP is normal, but increased ICP as well as uncal herniation are suspected→ Mannitol (0.5 to 1g/kg) Hypertonic saline has also been used Cushing triad▪ HTN, bradycardia, and irregular breathing
SIADH Can develop in children with TBI
Especially subdural or subarachnoid hemorrhage
Decreased UOP Hyponatremia Low serum osmolality High urine osmolality Can result in lethargy, altered mental
status, seizures, coma Fluid restrict to 2/3 maintenance If Na <120, correct with 3% saline
Neuroimaging
90% of CT scans obtained in alert children after minor head injury are negative
Radiation from head CT is 300 times that of CXR
AAP says (1999)… Observe child who has had no LOC Observe or conduct head CT for those
experiencing LOC
Neuroimaging Palchak and assoc. (2003) says CT if…
Abnormal mental status Signs of skull fracture Scalp hematoma in child <2 Vomiting Headache
Haydel and Shembakar (2003) says in kids with head injury and LOC these are indicators… Headache Emesis Intoxication Seizure Short-term memory loss Evidence of trauma above the clavicles
Children Under 2
Higher risk for intracranial injury Especially infants
Parietal and temporal scalp hematomas were highly associated with skull fractures and intracranial injury, but not frontal hematomas
Nonaccidental trauma
All kids get CT of head Ophtho consult Skeletal survey if under 2
Cervical Spinal Cord Injury Contusions, hemorrhage, fracture,
ligamentous sprain, “stingers”, and muscular strains
Occur with trauma to the top of the head when the neck is in flexion
Question #15 The most sensitive indicator of
neurocognitive outcome in cases of severe head injury is:A. Head CT findingsB. Absence of short-term memory lossC. Duration of comaD. Avoidance of hypotension during hospitalizationE. Patient’s response to stimuli (“AVPU” Alert,
Verbal, Painful, Unresponsive) per ATLS guidelines
Consequences of Head Injury Chronic headaches, depression, anxiety,
difficulties with expressive language and working memory, behavioral changes, ADHD
Children have better prognosis than adults GCS >8 have good long-term outcomes Duration of coma
Most sensitive indicator of neurocognitive outcome
< 2 weeks have considerably better outcomes
Migraine
Evaluation No support for routine laboratory studies or LP Routine EEG not recommended Role of neuroimaging
NOT indicated in children with recurrent HAs and a normal neuro exam
Should be considered:▪ Recent onset of severe HA▪ Change in type of HA▪ Neurologic dysfunction
Should be done with an abnormal neurologic exam or with coexistence of seizures
Management
First step: appreciate the degree of disability
Treatment regimen must balance biobehavioral strategies with pharmocologic measures
Acute treatments are the mainstay of migraine management!
1. Take the medication as soon as possible
2. Take the appropriate dose
3. Have the medication available at the location where the patient usually has the HAs
4. Avoid analgesic overuse (>3-5 doses/ week)
**Use should be limited to patients whose HAs occur with sufficient frequency (@ least 3/mo) or severity to warrant daily treatment**