结节性硬化症合并肺淋巴管平滑肌瘤病和肾血管平滑肌脂肪瘤。计算机断层扫描表现：病例报告。

Tuberous sclerosis with pulmonary lymphangioleiomyomatosis and renal angiomyolipomas. Computed tomographic findings: a case report.

作者信息

Vianna Flávia G, Marchiori Edson, Zanetti Gláucia, Mano Claudia M, Sarcinelli-Luz Branca, Carvalho Juliana F, Assed Carla, Santos Isabella G, Santos Alair A S M D, Vianna Alberto D

机构信息

Department of Radiology, Faculty of Medicine, Fluminense Federal University, Rio de Janeiro, Brazil.

出版信息

Cases J. 2009 Sep 11;2:9238. doi: 10.1186/1757-1626-0002-0000009238.

DOI:10.1186/1757-1626-0002-0000009238

PMID:20184711

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2827144/

Abstract

The authors describe a case of a 31-year-old female with tuberous sclerosis, a genetic, rare, variably expressed disease. Clinical symptoms were chest pain, and progressive dyspnea. Computed tomography scan of the chest showed bilateral, diffuse, small thin-walled cysts scattered throughout the lungs characteristic for pulmonary lymphangioleiomyomatosis. Computed tomography scan of the abdomen revealed enlarged, heterogeneous kidneys, with low density tumors corresponding to angiomyolipomas. Pulmonary lymphangioleiomyomatosis and bilateral renal angiomyolipomas are some presentations of tuberous sclerosis and the coexistence of both conditions may cause devastating morbidity and mortality.

摘要

作者描述了一例31岁患有结节性硬化症的女性病例，这是一种遗传性、罕见且表现多样的疾病。临床症状为胸痛和进行性呼吸困难。胸部计算机断层扫描显示双侧弥漫性分布着散在的小薄壁囊肿，这是肺淋巴管平滑肌瘤病的典型特征。腹部计算机断层扫描显示肾脏肿大且不均匀，低密度肿瘤对应于血管平滑肌脂肪瘤。肺淋巴管平滑肌瘤病和双侧肾血管平滑肌脂肪瘤是结节性硬化症的一些表现形式，这两种情况同时存在可能会导致严重的发病和死亡。