neurocutaneous disorders

Question 1

sturge-weber syndrome

Answer 1

developmental anamoly of neural crest cells. port-wine stain, ipsalateral leptominigeal angioma. seizures, epilapsy, intellectual disability, episcleral hemangioma. there is ealry onset glaucoma. this is sporadic.

Question 2

tuberous sclerosis

Answer 2

hamartomas, angiofibromas, mitral regurgitation, ash-leaf spots. rhabdomyoma, autosomal dominant, mental retardation, renal angiomyolipoma, seizures, subependymal astrocytomas. and ungal fibromas

Question 3

von hippel lindau

Answer 3

hemangioblastomas in the retina, brain stem, cerebellum, spine, angiomatosis in many tissues -cavernous in the skin, mucosa, organs, bilateral renal cell carcinoma.