Tuberous Sclerosis

Bourneville Disease; Bourneville Phakomatosis; cerebral sclerosis; Epiloia; sclerosis tuberosa; tuberose sclerosis

Tuberous sclerosis (meaning "hard swellings") is a rare genetic disorder primarily characterized by a triad of seizures, mental retardation, and skin lesions (called facial angiofibroma or adenoma sebaceum). This "classic" Vogt triad is present in 30-50% of cases; in particular, up to 30% of tuberous sclerosis reportedly have normal mentation. Tuberous sclerosis, along with Neurofibromatosis type I, Neurofibromatosis type II (a.k.a. MISME syndrome), Sturge-Weber, and Von Hippel-Lindau compr ...