Neurocutaneous Syndromes

Question 1

Neurofibromatosis 1

Answer 1

Inheritance: autosomal dominant, chromosome 17
Neurologic findings: optic nerve gliomas
Cutaneous findings: cafe-au-lait spots, neurofibromas, axillary or inguinal freckles
other: lisch nodules in the iris

Question 2

Neurofibromatosis 2

Answer 2

Inheritance: Autosomal dominant, chromosome 22
Neurologic findings: bilateral acoustic neuromas
Cutaneous findings: neurofibromas and cafe-au-lai spots are less common than in NF1

Question 3

Tuberous sclerosis

Answer 3

Inheritance: autosomal dominant, TSC-1: chr 9, TSC 2-chr 16
Neurologic findings: cortical tubers, subependymal nodules and astrocytomas, MR, seizures
Cutaneous findings: adenoma sebaceum, ash-leaf spots, shagreen patches
other: angiomyolipomas of kidneys, cardiac rhabdomyoma

Question 4

Ataxia telangiectasia

Answer 4

Inheritance: AR, chr 11
Neurologic findings: truncal ataxia, progressive dementia
Cutaneous findings: telangiectasias
Other: immunodeficiency and susceptibility to infections, leukemia and lymphoma

Question 5

von Hippel-Lindau

Answer 5

Inheritance: autosomal dominant, chr 3
Neurologic findings: cerebellar hemangioblastomas, ataxia
cutaneous findings: cafe-au-lait spots
other: renal lesions including hemangiomas and carcinomas, pheochromocytoma

Question 6

Sturge Weber

Answer 6

Inheritance: sporadic
Neurologic findings: venous angioma of the pia mater, seizures, hemiparesis, MR
Cutaneous findings: port-wine stain in the distribution of the opthalmic nerve