Neurocutaneous Disorders

Question 1

Sturge-Weber syndrome

Answer 1

Congenital disorder with port-wine stains (aka nevus flammeus), typically in V1 ophthalmic distribution; ipsilateral leptomeningeal angiomas, pheochromocytomas.
Can cause glaucoma, seizures, hemiparesis, and mental retardation. Occurs sporadically.

Question 2

Tuberous sclerosis

Answer 2

HAMARTOMAS: Hamartomas in CNS and skin; Adenoma sebaceum (cutaneous angiofibromas); Mitral regurgitation; Ash-leaf spots; cardiac Rhabdomyoma; (Tuberous sclerosis); autosomal dOminant; Mental retardation; renal Angiomyolipoma; Seizures.

Question 3

Neurofibromatosis type I (Von Recklinghausen’s disease)

Answer 3

Cafe-au-lait spots, Lisch nodules (pigmented iris hamartomas), neurofibromas in skin, optic gliomas, pheochromocytomas. Autosomal dominant, 100% penetrant, variable expression. Mutated NF1 gene on chromosome 17.

Question 4

Von Hippel-Lindau disease

Answer 4

Cavernous hemangiomas in skin, mucosa, organs; bilateral renal cell carcinoma, hemangioblastoma in retina, brain stem, cerebellum; pheochromocytomas. Autosomal dominant; mutated tumor suppressor VHL gene on chromosome 3.