Day 11

Question 1

Botox Mech

Answer 1

Blocks presynaptic ACh release at NMJ

Question 2

Tension HAs Description

Answer 2

Bilateral, band-like squeezing/pressure/burning

Question 3

Scintillating Scotoma

Answer 3

Most common visual manifestation of aura. Shimmering/zig-zag light in periphery that grows

Question 4

Paroxysmal hemicrania (what it is, accompanied by, treatment)

Answer 4

Unilateral brief HA, associated w/ ipsilateral autonomic features, responds to indomethacin

Question 5

Associated Psychiatric Comorbidity w/ PCOS

Answer 5

Depression

Question 6

Carbidopa Mech

Answer 6

Inhibits DOPA Decarboxylase, preventing change of L-Dopa to DA, so that L-Dopa can cross the BBB

Question 7

COMT Inhibitors (mech and 2)

Answer 7

Tolcapone and entacapone
Prevent peripheral degradation of L-Dopa and peripheral+central degradation of L-Dopa+DA, so increase levels all around. Often taken w/ levo-carbi

Question 8

Mad Hatter Syndrome

Answer 8

Manic sx from chronic mercury intoxication

Question 9

Paranoid PD Defense Mech

Answer 9

Projection

Question 10

Sturge-Weber Inheritance

Answer 10

Sporadic, not genetically inherited

Question 11

Hallmark(s) of Sturge-Weber

Answer 11

Facial cutaneous angioma (port-wine nevus), usually w/ ipsilateral brain angioma

Question 12

5 Other Sturge-Weber Sx

Answer 12

Contralateral hemiparesis
ID
Homonymous hemianopsia
Glaucoma -> blindness
Seizures

Question 13

Von-Hippel Lindau Inheritance/Chromosome

Answer 13

AD mutation in tumor suppressor gene on Ch 3

Question 14

Von-Hippel Lindau Predominant Presentation

Answer 14

Retinal and CNS hemangioblastomas + visceral cysts/tumors

Question 15

VHL 3 Tumor/Cyst Types

Answer 15

Most common CNS: cerebellar hemangioblastomas, 50%
Renal cysts: 50%
Pheochromocytoma: 10-20%

Question 16

VHL Tx

Answer 16

Freq f/u + screening for tumors

Question 17

Ataxia-Telangiectasia (inheritance pattern + what it is)

Answer 17

AR neurodegenerative d/o w/ early onset ataxia in childhood

Question 18

Ataxia-Telangiectasia 2 Main Presentation + 1 Other

Answer 18

Ataxia develops ~ 12 mo, when child starts to learn to walk
Telangiectasias later, 3-6y/o, and often around ears/nose/sclera
Also abn eye movements

Question 19

Ataxia-Telangiectasias Associated Illnesses

Answer 19

Leukemia + lymphomas

Question 20

Fabry’s Ds (inheritance pattern/what it is/deficiency)

Answer 20

XL lysosomal storage disease, deficiency in alpha-galactosidase A

Question 21

Fabry’s Ds 5 Sx/Progression

Answer 21

Main: asx red/purple papules around umbilicus, hips, thighs, scrotum
Corneal deposits
Pain dysesthesias of distal ext
Central thrombosis/hemorrhage
Eventual vascular narrowing from glycolipid deposition in arterial endothelium

Question 22

Fabry’s Ds Cause of Death

Answer 22

Renal failure from renal vascular compromise

Question 23

Fabry’s Ds Tx

Answer 23

Nothing really. Renal xplant can delay but not cure