Tuberous sclerosis complex

Crino et al. NEJM 355:13: 1345-1356 The Tuberous Sclerosis Complex [Review article}

TSC is a multisystem autosomal dominant disorder affecting children and adults, resulting from mutations in one of two genes, TSC1(encoding hamartin) or TSC2 (encoding tuberin).

Neurologic disorders include epilepsy, mental retardation, and autism. Other features are facial angiofibromas (formerly adenoma sebaceum), renal angiomyolipomas, and pulmonary lymphangiomyomatosis. TSC has a wide spectrun of disease ranging from subclinical to severely affected. Clinical trials utilizing tuberin and hamartin are underway.

The diagnosis is made clinically using major and minor criieria. Genetic tests are currently considered corroborative. Diagnosis may be made by developmental stage specific findings.

Renal disease (angiomyolipomas) occur in up to thre fourths, may be vascular, may sometimes be treated with embolization, and are most dangerous if greater than 3 cm in size.