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**