Esclerose tuberosa diagnosticada em idade adulta: um relato de caso

Abstract

Tuberous sclerosis complex (TSC) or simply tuberous sclerosis (TS), also known as Bourneville-Pringle disease, is a rare autosomal dominant genetic disease that alters the mechanisms of cell proliferation, generating hamartomas in several organs. Among the systems affected, the central nervous system (CNS), skin and skin appendages, kidney, respiratory, cardiac and ophthalmological systems stand out. The definitive diagnosis of tuberous sclerosis requires the identif ication of a pathogenic mutation in one of the genes associated with the disease, TSC1 or TSC2, through molecular genetic testing; 2 major clinical criteria or 1 major clinical criterion and 2 minor clinical criteria. The treatment of tuberous sclerosis is closely related to the systems affected, considering that the disease can affect multiple organs simultaneously. Therefore, monitoring by a multidisciplinary team is essential in order to ensure a comprehensive and individualized therapeutic approach. Regarding therapeutic strategies, it is also worth highlighting that the use of targeted therapy with mTORC1 inhibitors is currently an excellent alternative