Tuberous Sclerosis is an autosomal dominant neurological disorder characterized by the grown of benign tumors in the brain and other organs.
Tuberous Sclerosis is caused by mutations of tumor suppressor genes, including Hamartin (TSC1) on chromosome 9, and Tuberin (TSC2) on chromosome 16. tumor suppressor gene. These mutations cause the development of hamartomas in various organs.
Clinical features include classic skin findings like angiofibromas, shagreen patches and ash leaf spots. Cardiac findings include mitral regurgitation and rhabdomyomas. Renal angiomyolipomas can occur, and brain involvement can result in seizures and West Syndrome in infants, as well as developmental delay and intellectual disability.
Find Tuberous Sclerosis and more Neurological Disorders among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.