脐下巨细胞星形细胞瘤,一例罕见病例的报告

Behnaz Darvishi, Negin Farhad, Mazaher Ramezani
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引用次数: 0

摘要

结节性硬化综合征(TSC)是一种罕见的遗传病,为常染色体显性遗传,10%-20%的病例可能伴有脐下巨细胞星形细胞瘤(SEGA)。不同的表型与身体不同部位的病变形式有关,包括皮肤、大脑、肾脏、肺部和心脏。患者的年龄、肿瘤的位置以及相关的皮肤或神经系统病变可指导病理学家做出明确诊断。在此,我们报告了一例患有TSC的青少年SEGA病例。神经系统线索包括癫痫发作和智力低下、面部血管纤维瘤、肾肿块以及脑肿瘤的组织病理学检查,最终确诊为TSC和SEGA。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Subependymal giant cell astrocytoma, report of a rare case
Tuberous sclerosis complex (TSC) is a rare genetic disease that is inherited autosomal dominantly and may be associated with subependymal giant cell astrocytoma (SEGA) in 10-20% of cases. Different phenotypes are related to the form of lesions in different parts of the body, including skin, brain, kidneys, lungs, and heart. The age of the patient, the location of the tumor, and associated skin or neurological lesions may guide the pathologist for a definite diagnosis. Here we report a case of SEGA in an adolescent with TSC. Neurological clues including seizure and mental retardation, facial angiofibroma, renal mass, and histopathology examination of the brain tumor culminated in the diagnosis of TSC and SEGA.
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