Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 or TSC2 genes. The TSC1/TSC2 complex acts as a tumor suppressor by controlling the activity of the mammalian target of rapamycin (mTOR) pathway. Individuals with TSC have a wide array of clinical manifestations ranging from minimal or no symptoms or signs to severe debilitating intellectual disability, drug-resistant epilepsy, and autism spectrum disorder requiring substantial support. They may have benign tumors and hamartomas involving the heart, skin, brain, kidney, lungs, and other organs. Diagnosis is made by demonstrating changes in either the TSC1 or TSC2 gene or identification of clinical criteria that have been recommended by the International Tuberous Sclerosis Complex Consensus Group. Precision therapy is available for the treatment of epilepsy, subependymal giant cell astrocytoma, renal angiomyolipoma, and lymphangiomyomatosis but not cognitive and behavioral disorders.