Transcript Neurology Board Review - LSU School of Medicine

October 27, 2011

Pumpkins only come in one color, orange.
 A. True
 B. False

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%

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

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

Gram Negative Disease
 Rare!
 E. Coli most common
 Sources:
▪ Maternal genital tract
▪ Nosocomial infection
 Risk factors:
▪ Prematurity
▪ Maternal intrapartum infection
▪ PROM

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

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

Listeria (con’t)
 Late onset disease
▪ Asymptomatic vaginal or fecal carriage
▪ Exposure during delivery Meningitis

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)

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

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

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

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)

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

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

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


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

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)
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*
OLDER CHILDREN
Malaise
 Myalgia
 HA
 Photophobia
 Neck stiffness
 Anorexia
 Nausea
 Fulminant sepsis/ multiorgan involvement


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

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

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)

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

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

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

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

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
Management

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

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


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

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

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

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

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

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

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

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 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
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




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
Adolescents
Brain malformation
Metabolic 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

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

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
 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
 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
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.
B.
C.
D.
E.
Benign rolandic epilepsy
Juvenille myoclonic epilepsy
Frontal lobe epilepsy
Night terrors
Pseudoseizures

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 out
parasagittal tumor
 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
 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)

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

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%

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
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.
B.
C.
D.
E.
It will resolve on its own and her daughter will have no
cognitive deficits
Medication has no effect on cognitive outcome
There is no likely known cause
Her daughter has a high chance of developing an epileptic
syndrome
She should avoid having her daughter near flashing lights

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, LennoxGastaut)
Significant neurocognitive sequelae

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


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.
B.
C.
D.
E.
0%
1%
30%
15%
9%

3) Febrile seizures

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



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
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. Salmonella
B. Shigella
C. Clostridium difficile
D. Campylobacter jejuni
E. Rotavirus



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

Viruses most commonly involved:





Bacterial agents






CMV
EBV
Herpesviruses
HIV
Campylobacter jejuni*
Typhoid
Paratyphoid
Listeria
Mycoplasma pneumoniae
Other events
 Surgery
 Vaccines

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



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

Which of the following is the typical CSF analysis
seen in Guillain-Barre syndrome?
A. Elevated protein, cell count >50 cells/mm3 mostly
B.
C.
D.
E.
lymphocytes
Elevated protein, cell count >50 cells/mm3 mostly
neutrophils
Decreased protein, cell count <10 cells/mm3 mostly
monocytes
Elevated protein, cell count <10 cells/mm3 mostly
monocytes
Decreased protein, cell count >50 cells/mm3 mostly
monocytes

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


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

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

What is the mode of inheritance for DMD?
 A. X-linked recessive
 B. X-linked dominant
 C. Autosomal recessive
 D. Autosomal dominant
 E. Mitochondreal

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


Proximal muscles involved first
Skeletal and cardiac muscle affected
primarily

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

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

Increased risk for cognitive deficits
 Motor and language delay
 Poor attention span
 Immaturity
 Features of OCD

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

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

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

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

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

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

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

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


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


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
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
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






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

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.


His head CT shows→
The MOST likely
diagnosis is:
A. Epidural hematoma
B. Subdural hematoma
C. Subarachnoid
hematoma
D. Arteriovenous
malformation
E. Cerebral contusion


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)

Subdural hematomas
 More common in
children
 Tears of bridging veins
 Concave
 If unconscious,
immediate surgical
intervention

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

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

Trauma-induced alteration in mental status
with or without loss of consciousness



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

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
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.
B.
C.
D.
E.
He doesn’t have to wait that long, he can suit up and practice
tomorrow
He should refrain from any contact sports in the future
He can play in the game if asymptomatic at practice on Friday
He can play in the game if his CT scan is normal
He can play in a game again after a 1-week symptom free
period 1 month from now
Questions to Ask
Cry immediately
“goose egg” or scalp hematoma
Bleeding or fluid from nose or ear
Fall greater than 3 feet
Age of child
History of recent head injury
Call me back if…
Change in mental status
Seizures
Persistent or increasing headache
Protracted vomiting (more than 2 to 3 times)


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)

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

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



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

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

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



All kids get CT of head
Ophtho consult
Skeletal survey if under 2


Contusions, hemorrhage, fracture,
ligamentous sprain, “stingers”, and muscular
strains
Occur with trauma to the top of the head
when the neck is in flexion

The most sensitive indicator of
neurocognitive outcome in cases of severe
head injury is:
A.
B.
C.
D.
E.
Head CT findings
Absence of short-term memory loss
Duration of coma
Avoidance of hypotension during hospitalization
Patient’s response to stimuli (“AVPU” Alert,
Verbal, Painful, Unresponsive) per ATLS
guidelines




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



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


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**