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

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

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。

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.