Phakomatoses

Question 1

Which phakomatoses causes spontaneous penumothorax?

Answer 1

Tuberous sclerosis

Question 2

Which phackomatoses causes cardiac rhabdomyomas?

Answer 2

Tuberous sclerosis

Question 3

Which 2 phackomatoses causes renal cell CA?

Answer 3

Tuberous sclerosis, VHL

Question 4

Which phackomatoses causes giant cell astrocytomas and may cause obstructive hydrocephalus?

Answer 4

Tuberous sclerosis

Question 5

Which phackomatoses causes polycythemia?

Answer 5

VHL - CNS hemangioblastoma produces erythropoietin

Question 6

What are the 2 causes of GL in Sturge Weber?

Answer 6

1. Anterior chamber angle abnormality

2. Elevated episcleral venous pressure

Question 7

A nephroblastoma is what?

Answer 7

Wilms tumor

Question 8

Which phakomatosis first develop oculomotor apraxia then impairment of smooth pursuit then eventually complete supra nuclear ophthalmoplegia?

Answer 8

Ataxia-telangietacia

Question 9

Which phackomatosis has atrophy of the cerebellum?

Answer 9

Ataxia-telengitacia

Question 10

Which phakomatosis has cutaneous capillary malformations, varicocities, and bony and soft tissue hyperplasia - most commonly of the leg?

Answer 10

Klippel-Trenaunay-Weber syndrome