Neurocutaneous Disorders

Question 1

Sturge-Weber Syndrome

Answer 1

Sporadic
Port Wine Stains in V1 distribution
Ipsilateral leptomeningeal angiomas
Pheochromocytomas
Glaucoma, seizure, mental retardation

Question 2

Tuberous Sclerosis

Answer 2

Hamartomas (non-neoplastic malformation)in CNS and skin
Adenoma sebaceum (pink/yellow papule in buterfly formation)
Mitral regurg
Ash Left Spots
Rhabdomyoma
Tuberous Sclerosis
Autosomal dOminant
Mental Retardation
Angiomyolipoma
Seizures

Question 3

Neurofibromatosis Type I

Answer 3

AD - Chrome 17 - NF1 gene
Von Recklehausen's Disease
Cafe au lait spots
Neurofibromas in skin
Lisch nodules (pigmented iris hamartomas)
optic gliomas
Pheochromocytoma

Question 4

Neurofibromatosis Type II

Answer 4

AD - Chrome ?? - NF2 gene
Multiple meningiomas
GLiomas
Ependymonas of spinal cord
Bilateral Acoustic Schwannoma of CN VIII

Question 5

Von Hippel Lindau disease

Answer 5

AD - Chrome 3 - VHL gene (tumor suppressor)
Bilateral Renal Cell Carcinoma
Hemangioblastomas of cerebellum, brainstem, retina
Angiomas of skin, mucosa, organs
pheochromocytomas