Neuro Syndromes

Question 1

Von Hippel-Lindau

Answer 1

Rare, AD, capillary hemangioblastomas in the retina and/or cerebellum, congenital cysts/neoplasms in the kidney, liver, and pancreas. Risk for bilateral RCC

Question 2

Von Recklinghausen’s Disease

Answer 2

aka NF1, peripheral nervous system tumor, neurofibromas, optic nerve gliomas, Lisch nodules (pigmented nodules of the iris), and cafe au lait spots

Question 3

Neurofibromatosis Type 2

Answer 3

AD, bilateral CN VIII Schwannomas & multiple meningiomas

Question 4

Sturge-Weber Syndrome

Answer 4

Encephalotrigeminal angiomatosis, cutaneous facial angiomas, leptomeningeal angioma, Skin involvement in V1 & V2 distribution. Mental retardation, seizures, hemiplegia, and skull radiopacities. Skull may show “tram-track” calcifications

Question 5

Tuberous Sclerosis

Answer 5

Kidney, Liver & pancreatic cysts. Cortical & subependymal hamartomas. Cutaneous angiofibromas, visceral cysts, renal angiomyolipomas, cardiac rhabdomyomas, SEIZURES

Question 6

Osler-Weber-Rendu Syndrome

Answer 6

Hereditary Hemorrhagic Telangiectasia, AD. Epistaxis, GI bleeding or hematuria from rupture of telangiectasias. No cysts.