Tuberous sclerosis complex (TSC) is an inherited systemic disorder caused by pathogenic mutations in the TSC1 and TSC2 genes [1]. These tumor suppressor genes respectively encode the proteins hamartin and tuberin, which form a complex to negatively regulate mTORC1 signaling [2]. Overactivation of this signaling pathway in TSC allows for the development of hamartomas and other neoplasms in the brain, retina, kidney, lung, heart, liver, and skin [1-3]. Thus, an integral component of comprehensive TSC care is routine radiologic surveillance ...
Seguir leyendo →NOV