neurocutaneous dz

Question 1

capillary hemangioblastomas in retina or cerebellum, congenital cysts in kidney, liver, pancreas, RCC

Answer 1

VHL dz

Question 2

inherited PNS tumors: neurofibromas, optic nerve gliomas, lisch nodules, cafe au lait spots

Answer 2

NF1 dz (von recklinghausen)

Question 3

cutaneous facial angiomas, leptomeningeal angiomas, skin involvement with V1 and V2 distribution, port wine stains, mental retardation, seizures, hemiplegia, skull radioopacities, early onset glaucoma

Answer 3

sturge weber syndrome

Question 4

cortical and subepedymal hamartomas, cutaneous angiofibromas, visceral cysts, renal angiomyolipomas, cardiac rhabdomyomas, seizures

Answer 4

tuberous sclerosis

Question 5

congenital telangiectasias; rupture can cause epistaxis, GI bleeding, hematuria

Answer 5

osler-weber- rendu syndrome