All

Question 1

CADASIL

Answer 1

ch19q12 NOTCH3, fibrosis/stenosis arterioles in white matter, pathognemonic granular osmophlic material in EM of smooth muscle, NOTCH3 in skin diag now blood, lacunar infarcts and demylination also occur, migraine

Question 2

CARASIL

Answer 2

HTRA1 (HtrA serine peptidase 1), alopecia, gait, low back pain, lacunar stroke, dementia

Question 3

COL4A1

Answer 3

lacunes, recurrent IPHs, WMD, microbleeds, asymptomatic aneurysms, eye/kidney/muscle disease. In kids porencephaly and infantile hemiparesis.

Question 4

MELAS

Answer 4

MTTL1 complex 1 of resp chain, de novo, incomplete penetrance, and/or maternal, deaf, short

Question 5

Fabry

Answer 5

X, a-galactosidase, accum ceramide trihexoside, small fiber neurop, angiokeratomas (dark punctate in scrotum, axilla), cardiac, renal, dolichoectasia = strokes, path birefringent lipids. Rx enzyme replacement.

Question 6

Surge-Weber

Answer 6

somatic GNAQ mutation, port wine trigeminal distribution, calcification, choroidal hemangioma (eye)

Question 7

Pseudoxanthoma elasticum

Answer 7

AR, calcium accumulate in elastic fibers, predisposes occlusion of ICA and verts

Question 8

Marfan

Answer 8

fibrillin-1 AD, aneurysms, dissections

Question 9

Ehrles Danlos 4 vascular

Answer 9

COL3A1, translucent skin visible veins, easy bruise, dissections

Question 10

HERNS

Answer 10

(hereditary endotheliopathy, retinopathy, nephropathy and stroke) - subcortical leukoencephalopathy, retinal vasculopathy (blindness)

Question 11

VHL

Answer 11

hemangioblastomas (retinal), RCC, pheo, panc cancer

Question 12

Wyburn Mason

Answer 12

orbital AVM

Question 13

Osler Weber Rendu

Answer 13

HHT, conjunctival telangectasias

Question 14

PHACE

Answer 14

(posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation, eye abnormalities) - chorodial hemangiomas, Dandy walker, massive facial hemangioma

Question 15

Tangier

Answer 15

ABCA1 mut, familial alpha-lipoprotein def, low apoA, low HDL and LDL, high TG, LARGE ORAL TONSILS and other deposits (cant transport w/o apo)

Question 16

MHTFR mut

Answer 16

hyperhomocysteinemia, stroke, retard, lens, skeletal issues

Question 17

Susac

Answer 17

autoimmune, diffuse small vessel occlusions triad encephalopathy, BRAO and hearing loss, MRI with snowbal corpus callosum demylinating lesions

Question 18

Stroke histology

Answer 18

6-10 hrs - pink neurons
1-2 days PMN extrav
4-6 days Macrophages
5-10 days Neovascularization
Late cavitation or glial scar

Question 19

FMD medial fibroplasia

Answer 19

1 (string of beads, beads larger than normal caliber of vessel)

Question 20

FMD perimedial fibroplasia

Answer 20

(focal stenosis, smaller than nl caliber)

Question 21

Intimal fibroplasia

Answer 21

rare smooth focal or long smooth stenosis