分水岭区深部白质的病理特征:MELAS中枢神经系统受累的一种新模式

作     者：Apostolova L.G. White M. Moore S.A. Davis P.H. 夏峰 

作者机构：Dr. UCLA Alzheimer’s Disease Research Center RNRC 2-238 710 Westwood Blvd Los Angeles CA 90095 United States 

出 版 物：《世界核心医学期刊文摘（神经病学分册）》 (Digest of the World Core Medical Journals:Clinical Neurology)

年 卷 期：2005年第1卷第11期

页      面：11-12页

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

主　　题：MELAS 分水岭区 中枢神经系统 卒中发作 脑血管造影 肌肉活检 大脑灰质 肌病 脑病 乳酸酸中毒 

摘      要：Background: Myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome typically manifests in adults younger than 40 years with encephalopathy, strokelike episodes, and lactic acidosis. Magnetic resonance imaging (MRI) abnormalities typically involve the cortical gray and the adjacent subcortical white matter. Objective: To describe a 58-year-old woman diagnosed with MELAS who was initially seen with acute myopathy, cardiac ischemia, psychosis, and MRI changes in a watershed distribution. Results: Initial MRI of the brain showed the characteristic parieto-occipital gray matter lesions involving the adjacent white matter. Follow-up MRI revealed striking deep white matter involvement in a watershed distribution. A cerebral angiogram and thorough hypercoagulable workup results were normal. Electromyography showed acute denervation and myopathy. A muscle biopsy specimen revealed ragged red and cytochrome-c oxidase-negative fibers. Mitochondrial DNA analysis revealed an A3243G mutation. Conclusions: Myopathy, encephalopathy, lactic acidosis, and stroke-like episodes should be considered in older patients with myopathy, cardiomyopathy, encephalopathy, and unaccountable MRI findings. Watershed pathologic features are a rare pattern of cerebral involvement in MELAS.