A Novel TSC2 c.2489T>C Missense Variant Associated With Tuberous Sclerosis Complex: Case Report.

ABSTRACT

Objectives: Tuberous sclerosis complex (TSC) is a genetic disorder caused by a TSC1 or TSC2 gene variation characterized by widespread hamartomas in organs such as the skin, brain, heart, lungs, liver, and kidneys. Methods: We report a case of a patient with TSC who presented with broad clinical manifestations, including epilepsy. Results: An 18-year-old man was diagnosed with recurrent drug-resistant epilepsy. Neuroimaging revealed bilateral cortical and subcortical tubers with multiple calcified subependymal nodules. His skin involvement and psychomotor retardation raised the suspicion of TSC. Genetic testing confirmed the diagnosis, and a combined treatment including mTOR inhibitors was initiated. Discussion: TSC, although considered rare, needs to be considered when evaluating patients with broad clinical manifestations. Our report has significant implications for understanding the impact of genotype on the prognosis of TSC and the selection of treatment strategies for TSC-related refractory epilepsy.