neurocutaneous syndromes

Question 1

NF1

Answer 1

autosomal dominant, chrom 17. Optic nerve gliomas. cafe au lait spots, neurofibromas, axillary or inguinal freckles. Lisch nodules in iris.

Question 2

NF2

Answer 2

autosomal dominant, chrom 22. Bilateral acoustic neuromas. Cafe au lait spots less common than in NF1.

Question 3

Tuberous sclerosis.

Answer 3

Autosomal dominant– Chrom 9 or 16. Cortical tubers, subependymal nodules and astrocyomas, mental retardation, seizures. Adenoma sebaceum, ash-leaf spots, shagreen patches. Angiomyolipomas of the kidneys, cardiac rhabdomyoma.

Question 4

ataxia telangactasia

Answer 4

autosomal recessive, chrom 11, truncal ataxia, progressive dementia, telangactasias. Immunodeficiency and susceptibility to infections, leukemia and lymphoma.

Question 5

Von Hippel Lindau

Answer 5

autosomal dominant. chrom 3. cerebellar hemagioblastomas, ataxia. renal lesions including hmangiomas and carcinomas, pheochromocytomas.

Question 6

sturge weber

Answer 6

venous angioma of the pia mater, seizures, hemiparesis, mental retardation. port-wine stain in the distribution of some divisions of the ophthalmic nerve.