Neurology

Question 1

headache history

Answer 1

• history
  
  • what is the typical course?
  • how long does the headache last?
  • what makes the headache better/worse?
  • what precipitates the headache?
  • what other symptoms do you have?
  • how does this compare to past headaches?

Question 2

headache: review stress-related factors, red flags that prompt futher exploration

Answer 2

• review stress-related factors
  
  • school difficulty
  • family relationships
  • peer relationships
  • activity schedule
  • sleep hygiene
  • caffeine intake
• red flags that prompt further exploration
  
  • dramatic increase in headache severity
  • headache that awakens a child from sleep
  • change in established headache pattern/disrupt school and daily activities
  • gradually increasing frequency and severity
    
    • suggests increasing intracranial pressure

Question 3

headach physical exam, red flags in history or exam may set off further investigation

Answer 3

• physical exam
  
  • growth, head circumference, blood pressure
  • intracranial hypertension (papilledema)
  • focal neurologic signs
  • general exam findings
    
    • rhinitis, dental abscess, bruit, head trauma, hematoma,
• red flags in history or exam may set off further investigation
  
  • head imaging (CT for hemorrhage, MRI for tumor & cerebellar imaging)
  • electroencephalography (EEG)
    
    • +/- sleep deprivation

Question 4

tension headache, cluster headache

Answer 4

• tension headache
  
  • diffuse
  • symmetric
  • often related to fatigue
• cluster headache
  
  • extreme deep pain in and around one eye

Question 5

migraine headache

Answer 5

• migraine
  
  • triggered by stress, vomiting, family history
• classification
  
  • migraine with aura (visual or otherwise)
  • migraine without aura
  • complicated migraine (transient focal abnormality)

Question 6

childhood migraine variants

Answer 6

• paroxysmal torticollis
  
  • attacks of head tilt, sometimes with vertigo +/-vomiting
  • requires ruling out posterior fossa pathology
• benign paroxysmal vertigo
  
  • attacks of unsteadiness with nystagmus and vomiting followed by sleep
  • may precede development of typical migraine
  • requires ruling out epilepsy and CNS tumor
• cyclic vomiting
  
  • protracted attacks of vomiting, 1-4 times/hour, up to 5 days
  • requires ruling out epilepsy, GI disorder, urea cycle disorder
• abdominal migraine
  
  • attacks of migraine lasting 1-72 hours, untreatable by other means
  • midline, dull, moderate to severe pain
  • associated with anorexia, nausea, vomiting and pallor
  • diagnosed often by response to anti-migraine therapy
  • requires ruling out other GI disorder
• confusional migraine
  
  • episodic disorientation or combativeness, sometimes followed by headache
  • requires ruling out drug abuse, epilepsy, CNS ischemia

Question 7

migraine therapies

Answer 7

• migraine acute episode
  
  • sleep
  • acute treatment
    
    • acetaminophen, ibuprofen
    • sumatriptan, other triptans
  • rescue treatment
    
    • NSAIDs
    • promethazine
    • metoclopramide

Question 8

migraine prophylaxis

Answer 8

• create management plan to prevent stressors
• biofeedback (stress reduction)
• physical modalities (massage, PT, exercise)
• medications (usually involves a neurologist)
  
  • cyproheptadine
  • antihypertensives
    
    • propranolol, verapamil
  • tricyclic antidepressants
    
    • amitriptyline, nortriptyline
  • anticonvulsants
    
    • valproate, topiramate, gabapentin

Question 9

headache summary

Answer 9

• summary
  
  • acutely rule out underlying pathology
  • address exacerbating factors
  • management plan
    
    • medications (start with acetaminophen, ibuprofen)
    • abortive agents
    • daily prophylaxis (neurologist)

Question 10

pseudotumor cerebri

Answer 10

• increased intracranial pressure in the absence of identifiable intracranial mass or hydrocephalus
• postulated to be due to impaired CSF reabsorption
• risk factors
  
  • obesity
  • female
  • sinus thrombosis
  • head injury
  • chronic CO2 retention
  • systemic lupus erythematosus
• acute
  
  • headache
  • pulse synchronous tinnitus
  • pain behind the eye
  • pain with eye movements
  • transient visual obscurations
  • blurred vision or double vision
  • CN VI paresis
  • vomiting
  • macrocephaly
  • altered behavior
• chronic
  
  • growth impairment
  • optic atrophy
  • visual field loss
  • total blindness
• diagnosis (one of exclusion)
• CT
  
  • rules out hydrocephalus
• MRI
  
  • rules out intracranial mass
  • rules out hydrocephalus
• ophthalmologic exam
  
  • papilledema
  • optic nerve changes
• lumbar puncture
  
  • measurement of opening pressure
  • normal CSF panel and culture

Question 11

pseudotumor cerebri treatment

Answer 11

• treatment of underlying causes
  
  • weight loss is mainstay of therapy
  • treat anemia
• medical treatment
  
  • diuretics
    
    • acetazolamide (Diamox) - carbonic anhydrase inhibitor
  • glucocorticoids
  • lumbar puncture
• surgical treatment
  
  • optic nerve sheath decompression
  • lumboperitoneal shunt

Question 12

seizures

Answer 12

• a sudden, transient disturbance of brain function, manifested by involuntary, motor, sensory, autonomic, or psychic phenomena, alone or in any combination often accompanied by alteration of loss of consciousness
• epilepsy
  
  • repeated seizures without evident cause
  • recurrent, unprovoked seizures
• classification
  
  • symptomatic
    
    • cause is identified or presumed
  • idiopathic
    
    • cause is unknown or presumed to be genetic
• symptomatic (examples)
  
  • infection (meningitis/encephalitis)
  • trauma
  • metabolic (hypoglycemia, hyponatremia)
  • hypoxic
  • tumor
  • malformation (hydrocephalus)

Question 13

nonepileptic paroxysmal events

Answer 13

• benign nocturnal myoclonus
• shudder attacks
• tics & Tourette’s syndrome
• sleep orders
  
  • night terrors
  • sleepwalking/talking
  • cataplexy, narcolepsy
• nightmares
• migraine
  
  • benign paroxysmal vertigo
  • paroxysmal torticollis
• conversion reaction & pseudoseizure
• gastroesophageal reflux
• masturbation
• hypoglycemia
• temper tantrums & breath-holding
• syncope and vasovagal events
• paroxysmal dystonia or choreoathetosis

Question 14

seizure exam, treatment, abortive meds

Answer 14

• history
  
  • events prior (aura, what was person doing?)
  • events during and after
• exam
• laboratories based on clinical suspicion
  
  • CBC, metabolic abnormalities
• CT scan/MRI - indicated if seizure focus suspected
• EEG
  
  • not sensitive and not specific
  • may help classify seizure type to determine therapy
  • may reveal subclinical seizures
• treatment
  
  • ABCs
    
    • most seizures are brief and ABCs are of utmost importance in brief seizures
    • protect against self-injury, airway clearance, monitor ABCs
  • anticonvulsants - if seizures are prolonged or are hindering ABCs
  • education
    
    • seizure precautions
    • medication (side effect monitoring, compliance)
    • daily life
      
      • swimming
      • adequate sleep
      • driving
      • pregnancy
• abortive medications
  
  • benzodiazepines
    
    • lorazepam parenterally
    • diazepam orally or rectally
    • midazolam nasally, orally, rectally
    • When giving benzos, you need to be careful of respiratory depression
  • phenobarbital and fosphenytoin
• long-term anticonvulsants
  
  • different drug classes used for different types of epilepsy

Question 15

febrile seizure

Answer 15

• convulsion associated with a temp > 38.0° Celsius
• child 6 months to 5 years of age
• Not caused by CNS illness or metabolic abnormality
• no history of previous afebrile seizures
• most common childhood seizure
• incidence 2-5% of children under 5 years of age
• simple febrile seizure – meets all criteria:
  
  • duration under 15 minutes
    
    • total duration less than 30 minutes if in series
  • no recurrence in 24 hours
  • no focal features
• complex febrile seizure – meets one or more criteria:
  
  • duration over 15 minutes
  • recur in series for total duration > 30 minutes or more than seizure in a 24 hour period
  • focal features
• 65-90% of all febrile seizures are simple type
• Inciting agent
  
  • Viral infections
  • immunization-related fever
  • predisposing factors
    
    • heredity - SCN1a mutations - Dravet, GEFS+
    • maternal alcohol intake and smoking during pregnancy raises risk 2-fold
• degree of fever is widely variable
  
  • height of fever does not seem to correlate with onset of seizure
• often the first sign of illness
• simple febrile seizures most commonly are generalized and tonic-clonic
• reassurance
  
  • if fever work up unremarkable
  • if neurologic exam unremarkable
• treat fever to treat fever
• treat underlying illness
  
  • decreasing fever in febrile seizure patient does not decrease chance of another febrile seizure
  • antiepileptic medication if in status (status epilepticus)

Question 16

febrile seizure differential diagnoss

Answer 16

• differential diagnosis
  
  • chills/rigors because of fever
  • meningitis
  • encephalitis
  • intracranial tumor
  • metabolic disorder
  • neurologic disorder (developmental delay)

Question 17

diagnostic evaluation

Answer 17

• diagnostic evaluation
  
  • EEG usually not indicated for simple febrile seizure if history and physical benign
  • neuroimaging red flags
    
    • macrocephaly or microcephaly
    • focal features of seizure or abnormal neurologic exam
    • signs of increased intracranial pressure
    • history of signs of trauma
  • electrolytes, glucose, calcium, BUN should be measured if history and physical indicate (vomiting, diarrhea, edema, dehydration) or with complex febrile seizure
  • Search for underlying cause of fever based on clinical suspicion
  • AAP recommends stronger consideration of LP
    
    • infants younger than 12 months who have had first seizure with fever
    • febrile seizures occurring on or after second day of illness

Question 18

febrile seizure: prevalence of meningitis

Answer 18

• the prevalence of meningitis among patients with febrile seizures was 1-2%
  
  • the absence of any remarkable findings on the history or physical examination makes bacterial meningitis unlikely as the cause of the fever and seizure

Question 19

febrile seizures ABCs

Answer 19

• ABCs
• anticonvulsants
  
  • if seizure is prolonged (>10 minutes)
  • watch for respiratory compromise
  • drugs in office or ED
    
    • benzodiazepine (midazolam, lorazepam)
    • fosphenytoin
  • rectal diazepam (option for home use)

Question 20

febrile seizures role of preventative tx

Answer 20

• role of preventive therapy
  
  • antipyresis
    
    • around-the-clock use not shown to be of benefit to all children with febrile seizures
    • unknown if some subset benefits
    • intermittent use warranted
  • anticonvulsants
  • “based on the risk and benefits of effective therapies, neither continuous nor intermittent anticonvulsive therapy is recommended for children with one or more simple febrile seizures.” (AAP recommendations)

Question 21

febrile seizures: recurrence risk

Answer 21

• recurrence risk
  
  • young age at onset
  • history of febrile seizure in a first-degree relative
  • low degree of fever while in emergency department
  • brief duration between the onset of fever and the initial seizure
• all 4 factors – recurrence risk is 70%
• 0 of 4 factors – recurrence risk is <20%
• Risk of epilepsy:
  
  • Simple Febrile Seizures: 1-2%
  • Complex Febrile Seizures: 5-10%
• risk of recurrent febrile seizures is 10%
  
  • higher in children with first febrile seizure under age 1 year

Question 22

infantile spasms (west syndrome)

Answer 22

• term used to describe seizures that have characteristic clinical findings in age group 4 months to 8 months
  
  • sudden adduction and flexion of limbs
  • sudden adduction and flexion of the head and trunk
  • usually occurs in clusters when patient is irritable or fatigued
• categories
  
  • cryptogenic (40%)
    
    • no etiology evident, normal development before seizures
  • symptomatic (60%)
    
    • association with perinatal and prenatal event or other identifiable cause
    • have poor responses to anticonvulsants and poor intellectual prognosis
• EEG
  
  • waking state EEG reveals chaotic high-voltage slow waves, random spikes & background disorganization
• treatment
  
  • anticonvulsant therapy
  • ACTH may be helpful
  • ketogenic diet

Question 23

neurocutanous disorders

Answer 23

• Neurofibromatosis
• Tuberous Sclerosis
• Sturge-Weber syndrome
• disorders of tissue arising from neuroectoderm
  
  • skin findings
  • brain, spinal cord, eye manifestations
  • hamartomas
    
    • normal tissue growing at abnormal sites or abnormally rapidly

Question 24

neurofibromatosis

Answer 24

• two types of neurofibromatosis
  
  • NF 1 and NF 2
• NF-1 epidemiology
  
  • 50% of cases due to new mutations in the NF1 gene
  • 40% of patients will develop medical complications of the disorder

Question 25

neurofibromatosis type 1

Answer 25

• NF-1 is more prevalent than NF-2
  
  • clinical criteria
    
    • six or more café au lait spots
    • axillary or inguinal freckling
    • two or more Lisch nodules
    • two or more neurofibromas or one plexiform neurofibroma
    • distinctive osseous lesion
    • optic glioma
    • first degree relative with NF-1

Question 26

cafe au lait spots

Answer 26

• present in nearly all neurofibromatosis patients
• predilection for trunk and extremities
• spares the face
• common normal finding but in patients with increased number of spots and larger size characteristic of NF-1

Question 27

neurofibroma

Answer 27

• small, rubbery, usually involve the skin
• may be found viscerally and along peripheral nerves
• often appear in adolescence
• plexiform neurofibroma
  
  • diffuse thickening of nerve trunk
  • may produce overgrowth of extremity

Question 28

complications of neurofibromas

Answer 28

• scoliosis
• learning disabilities
• hypertension (renal artery stenosis)
• disorders of the hypothalmus
• tumors
  
  • brain
  • eye (may manifest with strabismus)

Question 29

treatment of neurofibromatosis

Answer 29

• treatment
  
  • management of complications
  • referral to a neurofibromatosis center
  • genetic counseling
    
    • prenatal testing is available if parent of possibly affected patient has known mutation
• brain MRI if any hint of optic glioma
• renal ultrasound with Doppler flow
• school assessment (individualized education plan)

Question 30

neurofibromatosis 2

Answer 30

• prevalence of about 1 in 40,000
• criteria
  
  • unilateral eighth nerve mass, particularly bilateral acoustic neuroma
  • parent, sibling or child with NF-2 with either
    
    • unilateral eight nerve mass or
    • any two of the following
      
      • neurofibroma
      • meningioma
      • glioma
      • Schwannoma
      • juvenile posterior subcapsular lenticular opacities

Question 31

tuberous sclerosis

Answer 31

• autosomal dominant disorder characterized by proliferation of tubers from abnormal production of protein hamartin and tuberin
• prevalence of about 1 in 6,000
• clinical manifestations
  
  • may present with seizures (infantile spasms)
  • calcified tubers in the periventricular areas
  • mental retardation
  • hypopigmented skin lesions
    
    • ash leaf macules
    • shagreen patch
    • adenoma sebaceum
• ash leaf spot
  
  • hypopigmented macule or patch
  • Wood’s lamp highlights appearance
• shagreen patch
  
  • roughened, raised lesion with an orange peel, leathery texture
  • often located in lumbosacral region
• sebaceous adenomas
  
  • tiny, red, hyperpigmented nodules over the nose and cheeks
• subungual fibroma
• periungual fibroma
  
  • commonly appear during adolescence
• treatment
  
  • seizure control
  • screening for complications
    
    • renal ultrasound
    • echocardiogram to look for rhabdomyomas
    • ophthalmologist referral to look for hamartomas
  • genetic counseling

Question 32

Sturge-Weber disease

Answer 32

• etiology
  
  • anomalous development of the vascular bed during early cerebral vascularization
  • overlying leptomeninges richly vascularized and the brain beneath becomes atrophic and calcified
• clinical manifestations
  
  • facial nevus (port-wine stain)
  • seizures
  • mental retardation
  • intracranial calcifications
  • hemiparesis
• port wine stain
  
  • facial nevus involving upper face, eyelid
  • glaucoma of the ipsilateral eye common complication
• radiologic diagnosis
  
  • intracranial calcifications on CT scan
  • unilateral cortical atrophy and ipsilateral dilatation of the lateral ventricle
• CT scan findings
  
  • cerebral atrophy
  • intracranial calcifications
• treatment
  
  • conservative management if seizures and development problems mild
  • moderate to severe disease
    
    • recalcitrant seizures – lobectomy
      
      • controversial decision
    • risk of glaucoma - ophthalmologist intraocular pressure monitoring
    • port wine stain - laser therapy
    • developmental delay – special education

Question 33

Guillain-barre syndrome

Answer 33

• acute inflammatory demyelinating polyradiculoneuropathy
  
  • Different subtypes exist including axonal GBS, Miller Fischer variant
• disorder is thought to result from a post-infectious immune mediated process that predominantly affects motor nerves
• pathophysiology
  
  • most likely grouping of disorders with peripheral nerve demyelination as a common mechanism
  • occurs after infection in two-thirds of cases
    
    • Campylobacter sp.
    • CMV, EBV
    • Haemophilus influenzae
    • Mycoplasma pneumoniae
    • viruses
• clinical manifestations
  
  • fine paresthesias & tingling of toes and fingertips
  • pain may be a prominent feature
  • ascending weakness/paralysis
    
    • lower extremity symmetric weakness
    • ascends to arms and cranial nerves
• exam
  
  • diminished or absent deep tendon reflexes
  • weakness
  • paralytic ileus
  • poor respiratory effort
  • bladder dysfunction
  • autonomic dysregulation
    
    • hypertension
    • hypotension
    • tachycardia/bradycardia
    • abnormal sweating
• diagnosis
  
  • MRI showing nerve root enhancement frequently seen
  • electrophysiologic studies
  • Specific autoantibodies can be sent
  • CSF
    
    • elevated protein
• Treatment
  
  • IVIG
  • plasmapheresis
  • physical therapy
• watch for complications
  
  • respiratory failure
  • nutrition
  • autonomic disturbance

Question 34

transverse myelitis

Answer 34

• inflammation of the spinal cord
• thought to have a immunologic basis
• pathogenesis (proposed)
  
  • cell-mediated immune response
  • direct invasion of the spinal cord
  • autoimmune vasculitis
• clinical manifestations
  
  • back pain at level of lesion
  • abrupt onset of progressive weakness; legs weak and flaccid
  • areflexia
  • sensory disturbances in the lower extremities below level of spinal lesion
  • history of preceding viral infection
  • sphincter disturbances
• laboratory findings
• lumbar puncture - non-specific
  
  • increased protein
  • pleocytosis with lymphocytes
• MRI (often diagnostic)
  
  • localized edema of area of spinal cord
• treatment
  
  • medications (controversial benefit)
    
    • corticosteroids
    • IVIG
    • plasmapheresis
  • supportive care

Question 35

infant botulism

Answer 35

• acute, flaccid paralytic illness caused by the neurotoxin produced by soil organism Clostridium botulinum
  
  • Gram-positive spore forming anaerobe
  • found in fresh and cooked agricultural products
    
    • HONEY - no honey under age 1
  • botulinum toxin is heat labile
• forms of botulism
  
  • wound
  • food-borne
  • infantile
• 95% of cases are between 3 weeks and 6 months of age
• almost half of cases are from California
  
  • probably due to soil mixture
  • history of parent working in/with soil - construction, landscaping etc
• botulinum toxin is carried by the bloodstream to peripheral cholinergic synapses
• binds irreversibly, blocking acetylcholine release and causing impaired neuromuscular and autonomic transmission
• loss of motor endplate function
• recovery requires re-growth of terminal unmyelinated motor neurons
• symmetric, descending paralysis
• cranial nerve palsies
  
  • poor feeding
  • weak suck
  • feeble cry
  • ptosis
  • obstructive apnea
• laboratory confirmation
  
  • detection of botulinum toxin in serum
  • detection of Clostridium botulinum in feces
  • CSF normal
• EMG defect in neuromuscular transmission
• treatment
  
  • supportive care
  • tube enteral feeding
  • respiratory support
    
    • positioning to avoid aspiration
    • mechanical ventilation
• botulism immune globulin (BIG)
  
  • reduces duration of illness if given early

Question 36

tics

Answer 36

• quick, repetitive, irregular, briefly suppressible movements
  
  • facial
    
    • blinking
    • grimaces
    • twitches
  • trunk and extremities
  • tics occur in 20% or more of school children
  • tics that are chronic occur in 1% of mainstream children
  • usually last 1 month to 1 year
  • stress/anxiety tend to increase the amount of tics
• treatment
  
  • teach parents natural history
  • disregard
  • monitor for co-morbidities
    
    • school problems
    • attention deficit hyperactivity disorder
    • obsessive-compulsive disorder
    • sleep difficulties

Question 37

Tourette’s syndrome

Answer 37

• diagnostic criteria
  
  • tics occur many times a day (usually in bouts) nearly every day or intermittently throughout a period of more than one year
    
    • during this period there was never a tic-free period of more than three consecutive months.
  • both multiple motor and one or more vocal tics have been present at some time during the illness, although not necessarily concurrently
  • onset before 18 years of age
  • disturbance is not due to the direct physiological effects of a substance or a general medical condition (e.g. Huntington’s disease or post-viral encephalitis)
• treatment
  
  • non-pharmacologic
    
    • counseling
    • adjustment of school and family members
  • medication
    
    • haloperidol
    • fluoxetine
    • clonidine

Question 38

Spinal muscular atrophy types I, II, III

Answer 38

• group of disorders characterized by degeneration of motor neurons with compensation from re-innervation of an adjacent motor unit
• upper motor neurons are not involved

Question 39

SMA type I, Wednig-Hoffman disease

Answer 39

• clinical manifestations
  
  • severe hypotonia
  • generalized weakness
  • thin muscle mass
  • involvement of the tongue (fasciculations)
  • preservation of extraocular muscles
• laboratory diagnosis
  
  • serum creatine kinase may be mildly elevated
    
    • different from muscular dystrophy
  • muscle biopsy - areas of atrophy, adjacent areas of hypertrophy
  • molecular genetic diagnosis
• treatment
  
  • no treatment to delay progression
  • functional aids in type II or type III
  • supportive care
    
    • feeding NG feeds
    • respiratory support
      
      • oxygen
      • pulmonary toilet

Question 40

derangements of cranial size

Answer 40

• Head size derangements
  
  • microcephaly
    
    • head circumference more than 2 standard deviations below the mean for age
  • macrocephaly
    
    • head circumference more than 2 standard deviations above the mean for age

Question 41

microcephaly

Answer 41

• chromosomal/genetic/metabolic disorder
• congenital malformation
• placental insufficiency
• perinatal hypoxia/trauma
• toxins (fetal alcohol syndrome, medications, maternal phenylketonuria)
• infections (TORCH)
• radiation
• familial

Question 42

macrocephaly

Answer 42

• differential diagnosis
  
  • benign familial macrocephaly
  • increased intracranial pressure
    
    • with dilated ventricles - hydrocephalus
    • with mass effect - tumor, arachnoid cyst, porencephalic cyst
  • megalencephaly (large brain)
    
    • neurocutaneous disorder
    • gigantism
    • metabolic disorder
    • lysosomal storage disease
    • leukodystrophy – progressive white matter degeneration
  • thickened skull