Multisystemic Tuberous Sclerosis Complex: A Comprehensive Case Report

Abstract

Tuberous Sclerosis Complex (TSC) is a rare, multisystemic, autosomal dominant genetic disorder resulting from mutations in the TSC1 or TSC2 genes. These mutations lead to the constitutive activation of the mechanistic target of rapamycin (mTOR) signaling pathway, resulting in the formation of benign hamartomas across multiple organ systems. We present the case of a 14-year-old male patient who presented with new-onset generalized tonic-clonic seizures. Clinical evaluation revealed hallmark cutaneous stigmata, specifically multiple café-au-lait macules. Diagnostic neuroimaging (computed tomography) demonstrated pathognomonic central nervous system involvement, including calcified subependymal nodules and cortical tubers. Abdominal ultrasound identified bilateral renal angiomyolipomas. This report provides a detailed analysis of the clinical presentation, radiological findings, and the necessary multidisciplinary surveillance protocols for adolescents with TSC.