Endo/Msk/Neuro

Question 1

Myotonic muscular dystrophy:

dx?

Answer 1

(AD) delayed muscle relaxation (can’t release handshake) + distal muscle wasting (older kids), neonatal
respiratory distress (newborn), cataracts, ptosis, baldness, hypogonadism

Dx ↑CPK + muscle bx, no tx available

Question 2

Myasthenia gravis: dx? tx?

Answer 2

Dx edrophonium test + get chest CT to r/o thymoma

Tx pyridostigmine

Question 3

Acute disseminated encephalomyelitis: dx? tx?

Answer 3

Dx- MRI shows white matter demyelination

Tx high-dose corticosteroids

Question 4

Acute infantile hemiplegia:
cause?
presentation?

Answer 4

trauma, infx, hypercoagulable state, arteritis, or metabolic d/o → MCA stroke in infant → abrupt onset hemiplegia

Question 5

Bilateral Bell palsy = 2° to…

Answer 5

Lyme disease, Guillain-Barre syndrome

Question 6

Phrenic nerve palsy: Dx?

Answer 6

chest U/S or fluoroscopy shows “seesaw diaphragm”

Question 7

Klumpke palsy:

Answer 7

C7-T1 palsy after difficult delivery → total hand paralysis + ipsilateral Horner syndrome

Question 8

Werdnig-Hoffman disease (SMA type 1):

tx?

Answer 8

∆SMN gene (protects neuroblasts from atrophy) → progressive degeneration of CNS motor neurons → respiratory distress + tongue fasciculations in newborn

Tx supportive care

Question 9

Todd paralysis:

Answer 9

focal weakness for 1-2 days following grand-mal seizure

Question 10

Apert syndrome:

Answer 10

AD, craniosynostosis + syndactyly of fingers/toes

Question 11

Crouzon syndrome:

Answer 11

craniosynostosis + wide-eyes w/ proptosis, “beak nose”

Question 12

Scaphocephaly:

Answer 12

isolated craniosynostosis of sagittal suture → long, narrow skull

Question 13

Craniopharyngioma:
s/s?
dx?
tx?

Answer 13

embryological remnant of Rathke pouch in sella turcica → headache, bitemporal hemianopsia, papilledema

Dx MRI shows suprasellar calcified cysts

Tx transsphenoid hypophysectomy

Question 14

Pinealoma: location?

s/s?

Answer 14

brain tumor at rostral midbrain

vertical gaze paralysis (Parinaud syndrome) + eyelid retraction (Collier sign) + ↑ICP sx

Question 15

Retinoblastoma:

Answer 15

AD ∆Rb on chromosome 13 → retinoblastoma (MCC leukocoria in kids)

↑risk of osteosarcoma later in life

Question 16

Cushing triad:

Answer 16

brain mass lesion → ↑ICP → ↓HR, ↑BP, irregular RR

Question 17

Dandy-Walker syndrome:

Answer 17

enlargement of 4th ventricle (hydrocephalus) + agenesis of cerebellar vermis

Question 18

Rasmussen encephalitis:
dx?
tx?

Answer 18

autoimmune attack on brain → rapid degeneration, initially presents w/ frequent and worsening seizures

Dx MRI
Tx hemispherectomy