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伴有m.3243A>G突变的迟发型线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)及其与动脉瘤形成的关联

Late onset MELAS with m.3243A > G mutation and its association with aneurysm formation.

作者信息

Zhu Kun, Li Shuang, Chen Huan, Wang Yao, Yu Miao, Wang Hongyan, Zhao Weijie, Cao Yunpeng

机构信息

Department of Neurology, First Affiliated Hospital of China Medical University, No. 155 Nanjing North Street, Heping District, Shenyang, Liaoning, 110001, China.

The 96th Class, 7-Year Program, China Medical University, No.77 Puhe Road, Shenyang North New Area, Shenyang, Liaoning, 110122, China.

出版信息

Metab Brain Dis. 2017 Aug;32(4):1069-1072. doi: 10.1007/s11011-017-9989-0. Epub 2017 Mar 21.

Abstract

We reported a 53-year-old with late-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) accompanied by aneurysm and large vessel dilations. Most studies have focused on microangiopathy causing stroke-like episodes. We report a case to describe large vessel involvement in clinical considerations, and possible mechanisms of aneurysm formation. We recommended regular angiographic examination for patients with MELAS.

摘要

我们报告了一名53岁患有迟发性线粒体脑肌病伴乳酸酸中毒和卒中样发作(MELAS)并伴有动脉瘤和大血管扩张的患者。大多数研究都集中在导致卒中样发作的微血管病上。我们报告一例病例,以描述大血管病变在临床考量中的情况以及动脉瘤形成的可能机制。我们建议对MELAS患者进行定期血管造影检查。

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