结节性硬化症合并典型临床三联征、室管膜下巨细胞星形细胞瘤及室管膜下结节1例

Zermina Tanvir , Khitamul Haq , Huzaifa Ali Khan , Waqar Ahmad , Inibehe Ime Okon , Bipin Chaurasia
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引用次数: 0

摘要

结节性硬化症(TSC)是一种罕见的遗传性疾病,以多器官良性肿瘤为特征。我们报告一例16岁男性复发性头痛、癫痫发作、皮脂腺瘤和发育迟缓,其特征符合结节性硬化症(TSC)的经典三征。影像显示室管膜下多发结节,室管膜下巨细胞星形细胞瘤(SEGA)和轻度脑积水。患者成功接受脑室腹腔分流术(VP分流术)放置,症状得到缓解。本病例强调早期诊断和影像学对指导TSC治疗的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Tuberous sclerosis complex with classic clinical triad, subependymal giant cell astrocytoma and subependymal nodules: A case report
Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors in multiple organs. We present the case of a 16-year-old male with recurrent headaches, seizures, sebaceous adenomas, and developmental delay—features consistent with the classic triad of Tuberous sclerosis complex (TSC). Imaging revealed multiple subependymal nodules, a subependymal giant cell astrocytoma (SEGA), and mild hydrocephalus. The patient underwent successful ventriculoperitoneal shunt (VP shunt) placement, resulting in resolution of symptoms. This case emphasizes the importance of early diagnosis and imaging in guiding the management of TSC.
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