Tuberous Sclerosis Complex: Clinical Case Presentation and Literature Review

Abstract

Tuberous sclerosis complex is a rare congenital illness with autosomal dominant transmission caused by a mutation in the TSC1 or TSC2 gene. It belongs to the phacomatoses and is distinguished by multi-systemic manifestations that can cause neurological, dermatological, cardiovascular, renal, ocular, pulmonary, renal, ocular, pulmonary, endocrine, gastrointestinal, and bone abnormalities. Here, we detail a familial case of tuberous sclerosis complex clinically diagnosed, along with the importance of early clinical, genetic diagnosis and therapy . Keywords: Tuberous sclerosis complex, Genetic disorder, Multisystemic disease, Epilepsy, Case report.