Neuro

Question 1

Most common cause of status epilepticus

Answer 1

Prolonged febrile seizure (23-30%)

Acute symptomatic (eg CNS infection, AE drug overdose or non-adherence, metabolic derangement) 17-52% for whole category

Remote (cerebral migration disorders, dysgenesis, hie, neurodegenerative disorder) 5-19%

CPS statement in status epilepticus

Question 2

Leukodystrophy history

Answer 2

history of loss of milestones or intellectual decline, gait disorder, signs of spasticity

Question 3

most common leukodystrophy

Answer 3

adenoleukodystrophy: X-linked, presents age 5-8 years with cognitive impairment, spasticity and seizures
elevation of VLCFA accumulation

Question 4

MRI in ALD

Answer 4

demyelination in occipital region that progresses anteriorly

Question 5

Leukodystrophy + macrocephaly

Answer 5

Canavan disease (spongy deterioration of the cerebral white matter) AR in ashk jew
Alexander disease

Question 6

tay sachs disease

Answer 6

lysosomal storage disease - loss of milestones, macrocephaly, cherry red spots

Question 7

MELAS

Answer 7

Mitochondrial encephalopathy lactic acidosis and stroke-like episodes

Question 8

MERRF

Answer 8

myoclonic epilepsy with ragged-red fibers

Question 9

Lesch-Nyhan syndrome

Answer 9

disorder of purine metabolism
hyperuricemia, spasticity, choreoathetosis, self-injurious behaviour
X-linked, mutation in the enzyme HGPRT

Question 10

Wilson disease

Answer 10

defet in copper transportating protein causing liver cirrhosis and depostis of copper in basal ganglia –> EPS symptoms (dystonia and chorea). AR inheritence. Low ceruloplamin, high Cu

Question 11

Menkes disease

Answer 11

defect in Cu transport causing deficiencies in Cu-containing enzymes –> grey matter degeneration, seizures and kinky hair. low serum Cu

Question 12

Rett syndrome mutation

Answer 12

MeCP2

Question 13

syndromes associated with craniosynostosis

Answer 13

apert, crouzon, pfeiffer

Question 14

classifications of CP

Answer 14

spastic
dyskinetic (dystonic or choreoathetoid)
ataxic-hypotoic

Question 15

Duane syndrome

Answer 15

Failure of normal development of the abducens nerve (CN6) –> LR muscle, impaired abduction of the eye

Question 16

Moebius syndrome

Answer 16

bifacial weakness and abnormal eye movements from abnormal development of CN nuclei (6 and 7 usually)

Question 17

AED for partial seizures

Answer 17

carbamazepine, oxcarbazepine

Question 18

AED for generalized seizures

Answer 18

VPA, Lamotrigine, topiramate, levetiracetam

Question 19

Lamotrigine indications and side effects

Answer 19

Generalized and absence
Interacts with VPA, so use low dose

SJS - increase dose slowly

Question 20

Topiramate indications and side effects

Answer 20

Generalized and partial

Acute angle closure glaucoma, sweating, cognitive dulling, weight LOSS

Question 21

Phenobarbital indications and side effects

Answer 21

neonatal seizures

cognitive effects, transition to different AED before 12 months

Question 22

Phenytoin side effects

Answer 22

cumulative toxicity - cerebellar atrophy

Gingival hypertrophy, fetal hydantoin syndrome

Question 23

VPA indications and side effects

Answer 23

Generalized with spike wave appearance, absence
–> mood stabilizer
liver failure/hepatitis, pancreatitis, hyperactivity, thrombocytopenia, rash, increase ammonia, weight GAIN, teratogenic

Question 24

Carbamazepine indications and side effects

Answer 24

partial, Rolandic
Worsens generalized sz, autometabolises so levels drift down with time
Leukopenia, aplastic anemia (CBC)
LFTs, thyroid function

Question 25

Oxcarbazepine indications and side effects

Answer 25

Partial | Hyponatremia, but no CBC changes (unlike CBZ)!

Question 26

Ethosuxamide

Answer 26

Absence common: GI upset rare: liver, bone marrow (no routine screening needed)

Question 27

Levatiracetam (keppra) indications and side effects

Answer 27

Used for many seizure types Excreted by kidney, reaches therapeutic dose quickly Main s/e is behaviour/irritability, which limits its use if present

Question 28

Idiosyncratic adverse effects of AEDs

Answer 28

rare, serious, life threatening - dose doesn't matter, usually happens in first 6 weeks

Question 29

Dose related side effects of AEDs

Answer 29

common, mild: GI, HA, drowsy --> decrease dose by 25%

Question 30

Neonatal myasthenia gravis diagnostic test

Answer 30

Edrophonium (tensilon) test (BAChase inhibitor, brief improvement in symptoms)

Question 31

Neonatal myasthenia gravis presentation

Answer 31

hypotonia, poor feeding, newborn, normal pupils normal DTR, resolves

Question 32

Congenital mysthenic syndrome

Answer 32

Not autoimmune, inherited neuromusc disorder at NMJ with Ach pre/post but not because of antibodies = different treatment Presents at different ages

Question 33

Congenital myotonic dystrophy

Answer 33

Mom 50%, presents at birth More severe than neonatal myasthenia gravis - poor suck, decr GI motility, resp distress, decr fetal mvmts/polyhydramnios

Question 34

Congenital myotonic dystrophy mutation and inheritance

Answer 34

Triplet repeat Chromosome 19, AD

Question 35

DMD diagnostic test and biopsy findings

Answer 35

lack dystrophin with muscle fiber atrophy/necrosis | PCR for dystrophin gene mutation done first, if negative --> muscle biopsy

Question 36

DMD inheritance

Answer 36

2/3 X linked recessive, 1/3 spont mutation

Question 37

Guillain Barre Syndrome CSF findings

Answer 37

^^protein (2x) with normal Glu and NORMAL WBC (normally if ^prot then ^WBC)

Question 38

Guillain Barre Syndrome investigations

Answer 38

Motor nerve conduction velocity decreased, EMG: acute denervation of muscle, CK normal or increased

Question 39

Guillain Barre Syndrome poor prognostic factors (3)

Answer 39

CN involvement, intubation, max disability at presentation

Question 40

Guillain Barre Syndrome treatment

Answer 40

supportive, if rapidly evolving can do IVIG x 2.5 days, steroid not effective, spontaneous recovery

Question 41

IVH screening in prems

Answer 41

<32 weeks at 2nd week of life + 6 weeks, critically ill --> DOL 3 All at risk will have f/u at term (36-40) to look for PVL

Question 42

When does neural tube close?

Answer 42

4th week!

Question 43

Causes of Bell's palsy (4)

Answer 43

``` Post-infectious: viral illness Ramsey hunt syndrome (VZV or herpes - look for vesicles in ear canal) Lyme disease AOM ```

Question 44

Sturge-Weber Syndrome features

Answer 44

``` facial port wine stain (V1) leptomeningeal angioma Glaucoma Calcified vessels on head CT Seizures in 80% ```

Question 45

Contraindications to ketogenic diet

Answer 45

fatty acid oxidation defects | carnitine deficiency