Tuberous sclerosis complex: a case report

Abstract

Background. Tuberous sclerosis complex (TSC) is a rare genetic disorder diagnosed in 6000-10000 children annually, marked by hamartomas in various organs due to hyperactivity of the mTOR pathway. Case report. A 9-year-old male with TSC exhibited developmental delays, skin lesions, vision and hearing impairments, and neurological symptoms. Extensive evaluations confirmed the diagnosis, and treatment included mTOR inhibitors, symptomatic management, and psychotherapy, resulting in condition improvement. Conclusions. TSC, caused by mutations in TSC1 and TSC2, significantly impacts organ function and quality of life, requiring comprehensive, multidisciplinary care.