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

Yujie Lai; Yuanye Ma; Biao Luo; Yan Long

doi:10.1212/NXG.0000000000200127

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

Neurol Genet. 2024 Feb 16;10(2):e200127. doi: 10.1212/NXG.0000000000200127. eCollection 2024 Apr.

Authors

Yujie Lai¹, Yuanye Ma¹, Biao Luo¹, Yan Long¹

Affiliation

¹ From the Department of Neurology and Center for Clinical Neuroscience (Y. Lai, Y.M., B.L.); and Department of Health Management (Y. Long), Daping Hospital, Army Medical University (Third Military Medical University), Chongqing, China.

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.