A 40-year-old man has had epileptic seizures since the age of 3 years.

Our patient had a history of intellectual disability, epileptic seizures, and facial angiofibromas in a butterfly distribution over the nose, cheeks, and chin, characteristic of the TSC (Fig. 106.1). TSC is inherited as an autosomal dominant trait, although the rate of spontaneous mutation is high. TSC has been identified in all races and in all parts of the world. Two genes, TSC1 on chromosome 9q34, encoding for protein product hamartin, and TSC2 on chromosome 16p13, encoding for the protein product tuberin, have been identified. TSC affects almost every organ system, most commonly the brain, skin, eyes, kidneys, heart, and lungs. More than 80% of individuals with TSC will have epileptic seizures at some point in their life. Seizures are the initial manifestation of TSC in 90% of individuals. Most common neurologic manifestations are partial or generalized seizures including infantile spasms during the first years of life, usually before the age of 3. Other neurologic manifestations include intellectual disability, hydrocephalus, autism, and pervasive developmental and other behavioral disorders.