CT诊断结节性硬化症多器官受累临床案例分析  

Diagnosis of Tuberous Sclerosis Complex with Multiple Organ Involvement using Computer Tomography:A Clinical Case Analysis

作　　者：李云 谢锟 LI Yun;XIE Kun(The Second People's Hospital Chuxiong Yi Autonomous Prefecture,Chuxiong 675000,China)

机构地区：[1]楚雄彝族自治州第二人民医院功能科,云南楚雄675000

出　　处：《CT理论与应用研究（中英文）》2024年第3期359-364,共6页Computerized Tomography Theory and Applications

摘　　要：结节性硬化症(TSC)是一种由于抑癌基因TSC1和/或TSC2突变引起的常染色体显性遗传病,其临床表现主要为反复癫痫发作、智力低下及面部血管纤维瘤等。本文报道1例TSC多器官受累病例,自幼年反复癫痫发作,右枕部皮肤鲨鱼革斑,双颊部多发紫红色小结节;CT平扫发现双侧侧脑室周围多发小钙化灶,肺淋巴管肌瘤病,双肾多发血管平滑肌脂肪瘤,左心室后壁心肌内存在多发脂肪灶。本文旨在提高对该病的认识。Tuberous sclerosis complex(TSC)is an autosomal dominant genetic disease caused by mutations in the tumor suppressor genes TSC1 and/or TSC2.Its clinical manifestations include recurrent seizures,intellectual disability,and facial angiofibromas.Herein,we report the case of a patient with TSC who had recurrent seizures since childhood,shark skin nevus on the right occipital region,and multiple purple-red nodules on both cheeks.Computer tomography(CT)revealed multiple small calcifications around the lateral ventricles,pulmonary lymphangioleiomyomatosis,multiple renal angiomyolipomas,and multiple lipomatous lesions on the left ventricular wall.Through this case report,we aimed to improve the understanding of TSC.

关 键 词：CT诊断 结节性硬化症 多器官受累 

分 类 号：R814.42[医药卫生—影像医学与核医学]