Report of MELAS Type Mitochondrial Encephalomyopathy：Four Cases in the Second Generation of a Familymelas

doi:10.12114/j.issn.1007-9572.2019.00.799

Abstract

Abstract: Mitochondrial encephalomyopathy is a rare maternally inherited disease.Four patients of a familymelas with MELAS type mitochondrial encephalomyopathy were analysed in this paper whose main clinical features were stroke-like episodes，headache，epilepsy，hyperlactatemia，muscle intolerance fatigue，advanced intelligence decline，hearing loss and short stature.The diagnosis was confirmed by characteristic imaging changes，gene detection and muscle biopsy.By reviewing literature and characteristics of mt-DNA? transmission only from daughter to the next generation，we summarized and analyzed the clinical characteristics of MELAS type mitochondrial encephalomyopathy，to help clinicians understand the disease and improve the diagnosis rates.

Key words: Mitochondrial encephalomyopathies, Maternal inheritance, Stroke-like episodes, Epilepsy, Decreased intelligence

摘要： 线粒体脑肌病属于罕见性母系遗传病，本文回顾性分析了1家4例高乳酸血症-卒中样发作综合征（MELAS）型线粒体脑肌病患者，其主要表现为卒中样发作、头痛、癫痫、高乳酸血症、肌肉不耐受疲劳、高级智能下降、听力下降和身材矮小等，结合特征性影像学变化、基因检测及肌肉活检明确诊断，并结合文献对只有女儿能将其线粒体DNA（mt-DNA）传递给下一代的母系遗传MELAS型线粒体脑肌病临床特点进行了总结分析，旨在帮助临床认识此病，进一步提高MELAS型线粒体脑肌病的临床诊断率。

关键词: 线粒体脑肌病, 母系遗传, 卒中样发作, 癫痫, 智能下降

NIU Huiyan1*,LIU Juan1,WANG Hai1, et al. Report of MELAS Type Mitochondrial Encephalomyopathy：Four Cases in the Second Generation of a Familymelas[J]. Chinese General Practice, 2020, 23(24): 3104-3108. DOI: 10.12114/j.issn.1007-9572.2019.00.799.
牛慧艳1*,刘娟1,王海1等. 高乳酸血症-卒中样发作综合征型线粒体脑肌病一家系两代四例报告[J]. 中国全科医学, 2020, 23(24): 3104-3108. DOI: 10.12114/j.issn.1007-9572.2019.00.799.

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