11-26

Question 1

bilateral hereditary hearing loss + imbalance

Answer 1

schwannomas, assoc w/ NF2 (AD inheritance, defect in merlin)

Question 2

deficiency: myeloneuropathy, anemia, hair fragility, skin depigmentation, edema

Answer 2

copper - typically in pts w/ hx of gastric surgery, chronic malabsorption, or XS zinc consumption

Question 3

motor + sensory dysfunction w/ localized severe back pain following removal of epidural block

Answer 3

spinal epidural hematoma - urgent MRI + neurosurgical decompression

Question 4

clinical sxs of pilocytic astrocytoma vs medulloblastoma

Answer 4

MB: truncal/gait ataxia
PA: fine motor/coordination deficits

Question 5

child w/ papilledema, blurry vision, headaches w/ nml rest of neuro exam

Answer 5

idiopathic intracranial HTN

Question 6

child w/ cognitive + behavioral regression, XS daytime sleepiness, difficulty opening hand after squeezing closed

Answer 6

myotonic dystrophy

Question 7

infant w/ intraventricular hemorrhage - which blood vessels?

Answer 7

germinal matrix blood vessels

Question 8

child w/ nml dev until age 6-18mo - followed by speech regression, stereotypical hand movements, gait abnormalities

Answer 8

Rett syndrome (MECP2 mut)

Question 9

previously health infant w/ bulbar palsies, constipation, hypotonia

Answer 9

botulism

Question 10

fragile X inheritance

Answer 10

X-linked CGG expansion in FMR1 - causes methylation

Question 11

greatest risk factor for cerebral palsy

Answer 11

prematurity

Question 12

tan colored hamartomas of the iris

Answer 12

lisch nodules - assoc w/ NF1

Question 13

most common cerebellar tumor in children

Answer 13

pilocytic astrocytoma

Question 14

childhood tumor causing inc ICP and coordination deficits (intention tremor)

Answer 14

pilocytic astrocytoma

Question 15

assoc w/ kyphoscoliosis + high-arched feet

Answer 15

friedreich ataxia

Question 16

scalp swelling that doesn’t cross suture lines - following birth trauma

Answer 16

cephalohematoma

Question 17

focal seizures vs absence: postictal phase

Answer 17

no postictal phase in absence seizures

Question 18

presents w/ progressive ataxia + loss of position/vibration during adolescence

Answer 18

friedreich ataxia

Question 19

pathophys of carpal tunnel in pt w/ hypothyroidism

Answer 19

soft tissue thickening + mucinous infiltration

Question 20

friedreich ataxia inheritance

Answer 20

AR - trinucleotide repeat (GAA) in frataxin gene

Question 21

jaundice, vomiting, hepatomegaly, hypoglycemia + reducing substances in urine in first few days of life

Answer 21

galactosemia - deficiency prevents reduction of galactose to glucose

Question 22

pts w/ NF1 are @ risk for developing what intracranial neoplasms?

Answer 22

optic pathway gliomas (also astrocytomas + brainstem gliomas)

Question 23

myotonic dystrophy genetics

Answer 23

CTG repeat expansion in DMPK gene

Question 24

motor weakness, autonomic dysfxn, sensory dysfxn @ distinct sensory level - usually following infection

Answer 24

acute transverse myelitis - tx w/ IV glucocorticoids + plasmapheresis

Question 25

myotonic dystrophy inheritance

Answer 25

autosomal dominant

Question 26

next step in management of hemodynamically stable pt w/ GBS

Answer 26

spirometry - monitor for impending respiratory failure

Question 27

childhood CNS tumor in cerebral cortex

Answer 27

low grade astrocytoma

Question 28

marfanoid body habitus w/ intellectual disability, thrombosis, fair complexion

Answer 28

homocystinuria