误诊为病毒性脑炎的线粒体脑肌病1例
A Case of Mitochondrial Encephalomyopathy Misdiagnosed as Viral Encephalitis
DOI: 10.12677/ACM.2024.141234, PDF,    科研立项经费支持
作者: 张 丽：锦州医科大学研究生学院，辽宁 锦州；临沂市人民医院中心实验室，山东 临沂；付庆喜：临沂市人民医院癫痫睡眠中心，山东 临沂；尤翠平, 苏全平：临沂市人民医院中心实验室，山东 临沂；临沂市神经生理学重点实验室，山东 临沂；山东省卫生健康委员会医药卫生神经生理学重点实验室，山东 临沂；苏明钊：临沂市人民医院中心实验室，山东 临沂；山东省卫生健康委员会医药卫生神经生理学重点实验室，山东 临沂
关键词: MELAS综合征；误诊；病毒性脑炎；癫痫；MELAS Syndrome； Misdiagnosis； Viral Encephalitis； Epilepsy
摘要: 线粒体脑肌病是一组由于线粒体DNA (mtDNA)或核DNA (nDNA)缺陷导致线粒体结构和功能障碍引起肌肉和中枢神经系统功能异常的疾病。线粒体脑肌病伴高乳酸血症和卒中样发作(Mitochondrial encephalomyopathy, lactic acidosis andstroke-like episodes, MELAS)是线粒体脑肌病的最常见类型。MELAS综合征最常见的原因是MT-TL1基因中的m.3243A > G突变。由于MELAS发病模式和神经系统症状与缺血性卒中相似，容易误诊。本文通过分析我院1例被误诊为病毒性脑炎的MELAS患者的临床诊疗过程，以提高对MELAS的诊断认知，并避免延误MELAS患者的治疗。
Abstract: Mitochondrial encephalomyopathies are a group of disorders in which defects in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) lead to mitochondrial dysfunction causing abnormalities in the functioning of muscles and the central nervous system. Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is the most common type of mitochondrial encephalo-myopathy. The m.3243A > G mutation in the MT-TL1 gene is the most common cause of MELAS syn-drome. MELAS onset pattern and neurologic symptoms are similar to those of ischemic stroke and are easily misdiagnosed. This article analyzes the clinical diagnosis and treatment process of a pa-tient with MELAS misdiagnosed as viral encephalitis in our hospital in order to improve the diag-nostic knowledge of MELAS and to avoid delays in the treatment of patients with MELAS.
文章引用：张丽, 付庆喜, 尤翠平, 苏明钊, 苏全平. 误诊为病毒性脑炎的线粒体脑肌病1例[J]. 临床医学进展, 2024, 14(1): 1629-1634. https://doi.org/10.12677/ACM.2024.141234

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