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8 Cards in this Set

  • Front
  • Back
Tuberous Sclerosis Complex
AD, involves Chrom 9 or 16 characterized by benign tumors of brain, heart, skin, eye, kidney, lung.
Tuberous Sclerosis Complex presentation
adenoma sabaceum, tubers, epilepsy, behavior and developmental problems
Neurofibromatosis Type 1
AD Chrom 17. café-au-lait spots, axillary freckling, Lisch nodules of the iris, neurofibromas
Neurofibromatosis Type 2
AD Chrom 22. Bilateral 8th nerve sheath tumors, tumors in other CN
Sturge-Weber
sporadic; caused by residual embryonal blood vessels.
Sturge Weber presentation
Sporadic, port wine stain in trigeminal distribution with involvement of the underlying meninges and secondary epilepsy
Von Hippel-Lindau
AD, Chrom 3
VHL presentation
hemangioblastomas of the CNS, no skin involvement, pheochromocytomas, Renal Cell Carcinoma