Aryal Sajiva, Sharma Suraj, Aryal Saman, Bhattarai Vikash
Kathmandu Medical College.
Bir Hospital, Kathmandu, Nepal.
Ann Med Surg (Lond). 2023 Feb 7;85(2):203-207. doi: 10.1097/MS9.0000000000000149. eCollection 2023 Feb.
Tuberous sclerosis (TS) is a rare autosomal-dominant neurocutaneous disorder that is characterized by hamartomas affecting a variety of organs, including the brain, heart, kidneys, skin, lungs, and liver. TS can emerge in a wide variety of clinical and phenotypic forms at any age, all with varying degrees of severity, and is brought on by mutations in the tumor suppressor genes or . This case report is about a 40-year-old female with facial angiofibromas and abdominal symptoms who was referred to the radiology department of our hospital for ultrasonography of the abdomen, which revealed echogenic mass lesions/angiomyolipomas in bilateral kidneys. Subsequent contrast-enhanced computed tomography of the abdomen revealed large fat-attenuating mass lesions which were confirmed to be angiomyolipomas. Similarly, noncontrast computed tomography of the head showed multiple calcified nodules/tubers in subependymal, subcortical, and cortical locations of the brain. High-resolution computed tomography of the chest showed multiple cystic lesions in bilateral lungs suggestive of lymphangioleiomyomatosis. The aim of this case report is to highlight the late presentation of tuberous sclerosis complex.
结节性硬化症（TS）是一种罕见的常染色体显性神经皮肤疾病，其特征是错构瘤影响多种器官，包括脑、心脏、肾脏、皮肤、肺和肝脏。TS可在任何年龄以多种临床和表型形式出现，所有形式的严重程度各不相同，且由肿瘤抑制基因 或 的突变引起。本病例报告是关于一名40岁女性，她有面部血管纤维瘤和腹部症状，被转诊至我院放射科进行腹部超声检查，结果显示双侧肾脏有高回声肿块病变/血管平滑肌脂肪瘤。随后的腹部增强计算机断层扫描显示有大量脂肪衰减肿块病变，经证实为血管平滑肌脂肪瘤。同样，头部非增强计算机断层扫描显示脑室内、皮质下和皮质部位有多个钙化结节/结节。胸部高分辨率计算机断层扫描显示双侧肺部有多个囊性病变，提示淋巴管平滑肌瘤病。本病例报告的目的是强调结节性硬化症复合体的晚期表现。
