Wcn24-1692 Tuberous Sclerosis Complex: Case Report

Introduction: Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder characterized by conditions involving many systems, including benign hamartomas of the brain, eyes, heart, lung, liver, kidney, and skin. It is an autosomal dominant genetic disorder with an incidence of approximately 1 in 5,000 to 10,000 live births. It is caused by pathogenic variants in the TSC1 or TSC2 genes, resulting in overactivation of the mTOR pathway. De novo pathogenic variants account for 80% of TSCs, while the prevalence of TSC1 and TSC2 pathogenic variants is approximately equal among familial TSC cases.