Tuberous sclerosis complex
TSCTuberous sclerosis complex is a rare genetic disorder in which benign tumors grow in the brain, skin, kidneys, heart, eyes and lungs.
It is caused by mutations in the TSC1 or TSC2 genes, which normally restrain cell growth. Features vary widely even within families and can include seizures beginning in infancy, intellectual disability, autism spectrum disorder, facial angiofibromas and other skin findings, kidney tumors and heart tumors detected before or shortly after birth. Epilepsy affects most people with the condition and is often difficult to control.
Diagnosis uses clinical criteria based on the number and type of characteristic features, supported by genetic testing and imaging of the brain, kidneys and heart. Lifelong surveillance by a multidisciplinary team is standard. A purified prescription cannabidiol is approved by the U.S. Food and Drug Administration for seizures associated with tuberous sclerosis complex, which is distinct from other cannabinoid products and is prescribed and monitored by a physician.