Neurology

Question 1

Presentation of Wilson disease?

Answer 1

Younger–liver disease; older–neuro/psych symptoms (tremors, emotional problems, handwriting difficulty, depression, abnormal eye movements)

Question 2

Lab findings in Wilson disease?

Answer 2

Low copper and low ceruloplasmin (copper deposited in tissues, not in serum)

Question 3

Treatment of Wilson disease?

Answer 3

D-penicillamine

Question 4

Causes of ataxia (“TIN” as in the Tin-Man)?

Answer 4

1) Toxic ingestions (ethanol, pesticides)
2) Infections (including Guillain Barre and post-infectious)
3) Neoplasm
- Also possibly metabolic disease or cerebral hemorrhage

Question 5

Presentation of ataxia telangiectasia?

Answer 5

Ataxic gait, skin/eye telangiectasias, +/- MR, low Ig’s and T-cell dysfunction, increased malignancies (HD, leukemia)

Question 6

Presentation of Freidreich ataxia?

Answer 6

Presents in late childhood/early adolescence, slow/clumsy gait, decreased strength, decreased reflexes, elevated plantar arch, diabetes, CHF

Question 7

Inheritance and presentation of Huntington chorea?

Answer 7

AD; p/w chorea, hypotonia, emotional lability (juvenile more likely to present with hypertonia)

Question 8

Do negative ASO/anti-DNase B titers rule out Syndemham chorea?

Answer 8

NO!!

Question 9

How do simple motor tics present?

Answer 9

Eye blinking, head/face/shoulder movements

Question 10

How do choreiform movements present?

Answer 10

Repetitive, jerking movements–cannot be suppressed

Question 11

How long are tics present to diagnose Tourette syndrome?

Answer 11

At least 1 year

Question 12

Comorbidities of Tourette syndrome?

Answer 12

ADHD, OCD (stimulants may unmask tics, but do not cause them)

Question 13

Medications that can cause pseudotumor cerebri?

Answer 13

High dose vitamin A, steroids, thyroxine, lithium, some abx

Question 14

Bacteria associated with Guillai Barre syndrome?

Answer 14

Campylobacter jejuni

Question 15

Treatment of choice for myasthenia gravis?

Answer 15

Pyridostigmine (acetylcholinesterase inhibitor); thymectomy (if thymoma is present)

Question 16

Difference between congenital (life-long) myasthenia gravis and transient (Mom’s antibodies) myasthenia gravis?

Answer 16

Transient does not involve the eyes; congenital does (C for congenital and conjunctiva)

Question 17

Presentation of infantile botulism?

Answer 17

Weak cry, constipation, listlessness, hypotonia, poor feeding, descending paralysis

Question 18

Inheritance of Duchenne muscular dystrophy?

Answer 18

X-linked recessive

Question 19

What distinguishes Duchenne muscular dystrophy from other neuromuscular disorders?

Answer 19

Absence of both tongue fasciculations and eye muscle involvement

Question 20

Inheritance of myotonic dystrophy?

Answer 20

AD

Question 21

Empiric antibiotics for brain abscess?

Answer 21

Vanco, ceftriaxone, metronidazole

Question 22

Treatment of spinal epidural abscess?

Answer 22

Abx with good staph coverage and surgical decompression

Question 23

What is transverse myelitis?

Answer 23

Post-infectious demyelination of nerves and spinal cord due to inflammation

Question 24

Presentation of transverse myelitis?

Answer 24

Acute onset of weakness, hypotonia, and decreased reflexes; progression to hypertonia and hyperreflexia; bowel/bladder dysfunction

Question 25

Treatment of transverse myelitis?

Answer 25

Supportive care (most will have spontaneous recovery in a few months)

Question 26

Presentation of SMA type 1?

Answer 26

Only motor, no sensory--hypotonia, weakness, poor suck, tongue fasciculations

Question 27

Difference between infantile botulism and SMA type 1?

Answer 27

Tongue fasciculations

Question 28

What is Todd's paralysis?

Answer 28

Post-ictal focal motor weakness

Question 29

EEG findings for absence seizures?

Answer 29

3 Hz spike and wave

Question 30

Differences between absence and complex partial seizures?

Answer 30

Absence seizures start and end abruptly (no post-ictal), and CPS may start as simple partial and end gradually with post-ictal; absence are also short (<30s)

Question 31

What diagnositic maneuver can induce absence seizure?

Answer 31

Hyperventilation

Question 32

Treatment of absence seizures?

Answer 32

Ethosuximide or valproic acid

Question 33

Treatment of generalized tonic-clonic seizures?

Answer 33

Valproic acid, phenytoin, carbamazepine, lamotrigine (watch out for SJS)

Question 34

What are myclonic seizures?

Answer 34

Single or repetitive contractsion of isolated groups of muscles--"shock-like muscle twitches"

Question 35

How to differentiate tics from seizures?

Answer 35

Tics can be suppressed

Question 36

What is the triad in infantile spasms (West syndrome)?

Answer 36

1) Infantile spasms 2) Hypsarrhythmia on EEG 3) Developmental delay

Question 37

What do infantile spasms look like?

Answer 37

Sudden flexion or extension of body (similar to Moro reflex); may occur 20-30 in a row

Question 38

What genetic syndrome is associated with infantile spasms?

Answer 38

Tuberous sclerosis (babies with "tuberous" sclerosis love their potatoes)

Question 39

Treatment of infantile spasms?

Answer 39

ACTH, steroids, benzos, focal resection?

Question 40

Treatment of simple partial seizures?

Answer 40

Carbamazepine (treatment not always necessary)

Question 41

What are Benign Rolandic seizures?

Answer 41

Self-limited focial motor seizure, often with unilateral sensory involvement

Question 42

When do Benign Rolandic seizures occur?

Answer 42

Most often at night when child is asleep; associated with migraines

Question 43

Inheritance and treatment of Benign Rolandic seizures?

Answer 43

AD; treat with carbamazepine (may not always be indicated)

Question 44

Treatment of choice for juvenile myoclonic epilepsy?

Answer 44

Valproic acid

Question 45

How long seizure-free before withdrawing meds?

Answer 45

2 years (don't withdraw if seizure onset >12yo, neonatal seizures, or multiple meds tried before control)

Question 46

Presentation of adrenoleukodystrophy?

Answer 46

Difficulty paying attention and concentrating, clumsy (abnormal motor function), adduction of contralateral leg with patellar reflex

Question 47

What is cerebral palsy?

Answer 47

Static encephalopathy with gross and fine motor abnormalities evident early in life

Question 48

Most common risk factor for CP in premature babies?

Answer 48

Perinatal infections

Question 49

Presentation of labyrinthitis?

Answer 49

Vertigo lasting hours or days, hearing loss

Question 50

Presentation of stroke in mitochondrial disorder?

Answer 50

Elevated lactate, sensorineural hearing loss, stroke

Question 51

Order of cognitive impairment in CP?

Answer 51

Spastic quadriplegia > spastic hemiplegia > spastic diplegia (best)