一种与结节性硬化症相关的新型c.2489T>C错义变异：病例报告
A Novel c.2489T>C Missense Variant Associated With Tuberous Sclerosis Complex: Case Report.
作者信息
Lai Yujie, Ma Yuanye, Luo Biao, Long Yan
机构信息
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.
出版信息
Neurol Genet. 2024 Feb 16;10(2):e200127. doi: 10.1212/NXG.0000000000200127. eCollection 2024 Apr.
OBJECTIVES
Tuberous sclerosis complex (TSC) is a genetic disorder caused by a or 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.
目的
结节性硬化症（TSC）是一种由TSC1或TSC2基因变异引起的遗传性疾病，其特征是在皮肤、大脑、心脏、肺、肝脏和肾脏等器官中广泛存在错构瘤。
方法
我们报告一例结节性硬化症患者，该患者临床表现广泛，包括癫痫。
结果
一名18岁男性被诊断为复发性耐药癫痫。神经影像学检查显示双侧皮质和皮质下结节，伴有多个钙化的室管膜下结节。他的皮肤受累和精神运动发育迟缓引发了对结节性硬化症的怀疑。基因检测确诊了该疾病，并开始了包括mTOR抑制剂在内的联合治疗。
讨论
结节性硬化症虽然被认为罕见，但在评估临床表现广泛的患者时需要考虑。我们的报告对于理解基因型对结节性硬化症预后的影响以及结节性硬化症相关难治性癫痫治疗策略的选择具有重要意义。
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