Neurocutaneous Disorders

Question 1

affects small (capillary-sized) blood vessels:

Answer 1

Sturge Weber syndrome

Question 2

congenital, non-inherited developmental anomaly of neural crest derivatives d/t activating mutations in GNAQ gene:

Answer 2

Sturge Weber syndrome

Question 3

port-wine stain:

Answer 3

Sturge Weber syndrome

Question 4

ipsilateral leptomeningeal angioma leading to seizures:

Answer 4

Sturge Weber syndrome

Question 5

episcleral hemangioma leading to increased IOP and early onset glaucoma:

Answer 5

Sturge Weber syndrome

Question 6

Tram-track calcifications (opposing gyri):

Answer 6

Stuge Weber syndrome

Question 7

TSC1 mutation on cx 9 or TSC2 mutation on cx 16:

Answer 7

Tuberous Sclerosis

Question 8

Autosomal dominant inheritance with variable expression:

Answer 8

Tuberous Sclerosis

Question 9

hamartomas

angiofibromas

mitral regurgitation

angiomyolipomas

rhabdomyoma

mental retardation

ash leaf spots

seizures

shagreen pathches

Answer 9

Tuberous sclerosis

Question 10

increased incidence of subependymal giant cell astrocytomas and ungual fibromas:

Answer 10

Tuberous sclerosis

Question 11

Mutation in NF1 tumor suppressor gene on cx 17:

Answer 11

Neurofibromatosis type 1

Question 12

autosomal dominant with 100% penetrance:

Answer 12

NF1

Question 13

café au lait spots

cutaneous neurofibromas

optic gliomas

pheochromocytoma

Lisch nidules

freckling axilla

hyperpigmented macules

Answer 13

NF1

Question 14

Neurofibromin is a negative regulator of:

Answer 14

RAS

Question 15

Mutation in NF2 tumor suppressor gene on cx 22:

Answer 15

Neurofibromatosis type 2

Question 16

autosomal dominant inheritance of NF2 mutation:

Answer 16

NF2

Question 17

BL acoustic neuromas

schwannomas

juvenile cataracts

meningiomas

ependymomas

Answer 17

NF2

Question 18

autosomal dominant deletion of VHL gene on cx 3p:

Answer 18

von Hippel-Lindeau disease

Question 19

function of pVHL:

Answer 19

ubiquinates hypoxia inducible factor 1a (HIF-1a)

Question 20

Characterized by development of numerous tumors benign and malignant:

Answer 20

VHL disease

Question 21

Hemangioblastoma (high vascularity with hyperchromatic nuclei) in brainstem, retina, and cerebellum

BL RCC

Angiomatosis (cavernous hemangioma in skin, mucosa, and organs)

Pheochromocytoma

Answer 21

VHL