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。
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.
作者
牛慧艳
刘娟
王海
彭超英
贾渭泉
NIU Huiyan;LIU Juan;WANG Hai;PENG Chaoying;JIA Weiquan(Department of Neurology,Zhuozhou City Hospital,Zhuozhou 072750,China;Department of Neurology,Chinese PLA General Hospital,Beijing 100089,China)
出处
《中国全科医学》
CAS
北大核心
2020年第24期3104-3108,共5页
Chinese General Practice
关键词
线粒体脑肌病
母系遗传
卒中样发作
癫痫
智能下降
Mitochondrial encephalomyopathies
Maternal inheritance
Stroke-like episodes
Epilepsy
Decreased intelligence