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局灶性小脑梗死作为线粒体肌病、脑病、乳酸酸中毒和卒中样发作的首发症状。

Focal cerebellar infarction as an initial sign of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.

机构信息

Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea.

Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Republic of Korea.

出版信息

J Inherit Metab Dis. 2019 May;42(3):575-576. doi: 10.1002/jimd.12020. Epub 2019 Jan 28.

Abstract

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a type of mitochondrial disorder and stroke-like lesions are observed prominently in the brain magnetic resonance imaging. Those stroke-like lesions of MELAS patients are usually located in the posterior quadrants and do not correspond to typical vascular territories. This case illustrates that focal cerebellar infarction can be the sole initial sign of MELAS.

摘要

线粒体肌病、脑病、乳酸酸中毒和卒中样发作(MELAS)是一种线粒体疾病,在脑磁共振成像中明显观察到卒中样病变。MELAS 患者的这些卒中样病变通常位于后象限,与典型的血管区域不对应。本例说明局灶性小脑梗死可以是 MELAS 的唯一初始征象。

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