neurology

Question 1

spina bifida - neonatal screening

Answer 1

alpha fetoprotein is elevated

Question 2

spinal muscular atrophy

Answer 2

ant horn cell degeneration, 2 most common hereditary NM disorder after Duchennes
Etiology - auto recessive
Sx: hypotonia, weakness, tongue fasciculations
- weak cry, tongue fasciculations, bell shaped chest, frog leg posture, nl EOM and sensory

3 forms depending on age of onset

Question 3

infant botulism

Answer 3

bulbar weakness and paralysis, prevents release of Ach
Sx: constipation, weak cry and suck, loss of milestones, ophthalmoplegia, hyporeflexia
- symmetric descending paralysis
Tx: botulism Ig, no abx

Question 4

congenital myotonic dystrophy

Answer 4

auto dom, inability to relax contracted muscles, trinucleotide repeat disorder

Sx: feeding and respiratory problems
- facial diplegia, hypotonia, areflexia, arthrogryposis
- myotonia by age 5 ( can’t relax grip etc)
- MR
Tx: supportive

Question 5

teratogens that cause spina bifida

Answer 5

valproate, phenytoin, colchicine, vincristine, azathiprine, methotrexate

Question 6

cheyne stokes breathing

Answer 6

alternating apneas and hyperpneas - bilateral cortical injury

Question 7

apneustic breathing

Answer 7

pausing at full inspiration - pontine damage

Question 8

ataxic/agonal breathing

Answer 8

irregular respirations - medullary injury and impending brain death

Question 9

west syndrome

Answer 9

3-8 months
Cause: tuberous sclerosis
Sx: brief myoclonic jerks in clusters of 5-10 seizures spread over 3-5 minutes
Tx: ACTH, valproic acid, vigabatrin
Leads to MR

Question 10

absence seizures

Answer 10

5-9 years old, female 3:2, auto dom
Sx: seizures 5-10 seconds, tens to hundreds of times per day
- no loss of posture, urinary incontinence or postictal state
Dx: 3 Hz spike and wave discharge
Tx: ethosuximide

Question 11

benign rolandic epilepsy

Answer 11

partial epilepsy, 3-13 years of age, boys, auto dom
Sx: seizures when kids are asleep with oral/buccal manifestations
- then spread to tonic clonic seizures

Question 12

most common headache in children

Answer 12

migraine without aura

Question 13

ophthalmoplegic migraine

Answer 13

unilateral ptosis/CN 111 palsy

Question 14

basilar artery migraine

Answer 14

vertigo, tinnitus, ataxia, dysarthria

Question 15

acute cerebellar ataxia of childhood

Answer 15

unsteady gait from autoimmune or postinfectious cause
- most common cause of ataxia
- 18 months and 7 years
Sx: truncal ataxia, slurred speech and nystagmus, no fever
Dx: nl head ct, diagnosis of exclusion
Tx: supportive

Question 16

sydenham chorea

Answer 16

autoimmune disorder associated with rheumatic fever
- cross reactive antibodies on membrane antigens on GABS and basal ganglia cells
Sx: 2-7 months later children restless, speech affected, can’t maintain sticking out tongue, can’t maintain grip, emotional lability

Question 17

tourette syndrome

Answer 17

chronic lifelong movement disorder with motor and phonic tics before 18
Sx: motor tics, phonic tics, tics > 1 year, abscence of neurodegenerative disorder
DDx: wilson’s disease, sydenham chorea, partial seizures, pediatric autoimmune neuropsych disorders
Tx: pimozide, clonidine, haloperidol, hypnotherapy