Abstract
Tuberous sclerosis is a rare congenital disease characterized by developmental defects of the central nervous system, skin and inner organs with the development of tumours. One case of tuberous sclerosis is described in a 45-year-old female with the involvement of the brain, eyes, skin, kidneys and lungs. The cause of death was uremia as a consequence of large kidney angiomyolipomas.
摘要
结节性硬化症是一种罕见的先天性疾病，其特征为中枢神经系统、皮肤和内脏发育缺陷并伴有肿瘤形成。本文描述了一例45岁女性结节性硬化症患者，其脑、眼、皮肤、肾脏和肺均受累。死亡原因是巨大肾血管平滑肌脂肪瘤导致的尿毒症。
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