Suppr超能文献

[结节性硬化症伴肺部受累]

[Tuberous sclerosis with pulmonary involvment].

作者信息

Ferreira Susana, Nogueira Carla, Ferreira Daniela, Neves Sofia, Taveira Natália

机构信息

Interna Complementar de Pneumologia.

出版信息

Rev Port Pneumol. 2010 Mar-Apr;16(2):339-44. doi: 10.1016/s0873-2159(15)30032-5.

Abstract

Tuberous sclerosis (TS) is a rare, sporadic or autosomal dominant disease characterized by the triad of seizures, mental retardation and angiofibromas. Lungs are rarely involved in TS, and pulmonary involvement is almost always found in females. We report the case of a 52 year -old female, nonsmoker, with a history of seizures in childhood and renal angiomyolipomas. She presented no complaints and her physical exam was normal. Chest CT performed for the evaluation of the disease detected thin-walled pulmonary cysts in both lungs. Lung function tests were normal. Cortical tubers and calcified subependymal nodules were seen in cerebral magnetic resonance. Tuberous sclerosis was diagnosed (lymphangioleiomyomatosis, cortical tubers, calcified subependymal nodules and angiomyio- lipomas). The authors present this case because of its rarity and the existence of pulmonary involvement, while still asymptomatic.

摘要

结节性硬化症(TS)是一种罕见的、散发或常染色体显性疾病,其特征为癫痫发作、智力发育迟缓及血管纤维瘤三联征。肺部很少受累于结节性硬化症,且肺部受累几乎总是见于女性。我们报告一例52岁非吸烟女性病例,其儿童期有癫痫发作史及肾血管平滑肌脂肪瘤。她无任何不适主诉,体格检查正常。为评估病情而进行的胸部CT检查发现双肺有薄壁肺囊肿。肺功能测试正常。脑部磁共振成像显示有皮质结节和钙化的室管膜下结节。诊断为结节性硬化症(淋巴管平滑肌瘤病、皮质结节、钙化的室管膜下结节及血管平滑肌脂肪瘤)。作者之所以呈现此病例,是因其罕见性以及存在肺部受累情况,而患者仍无症状。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验