线粒体脑肌病伴高乳酸血症和卒中样发作综合征的肌肉病理和电镜特征  

Muscle pathology and electron microscopy characteristics of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes

作　　者：吴世陶[1] 刘方[2] 石伟伟 张敏[1] 郭亚培[1] 刘恒方[1] WU Shitao;LIU Fang;SHI Weiwei(Department of Neurology,Muscle Pathology Laboratory,The Fifth Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第五附属医院神经内科、肌肉病理实验室,河南郑州450052 [2]郑州大学第五附属医院护理部,河南郑州450052

出　　处：《中风与神经疾病杂志》2020年第8期685-688,共4页Journal of Apoplexy and Nervous Diseases

基　　金：河南省医学科技攻关计划省部共建项目(No.SB201901056)。

摘　　要：目的探讨线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)综合征的肌肉病理和电镜特征。方法收集2013年1月-2019年1月郑州大学第五附属医院和郑州大学第一附属医院经肌肉病理和基因测序同时确诊的33例MELAS综合征的资料,对他们肌肉病理和电镜结果进行回顾性分析。结果光镜下25例改良Gomori染色可见破碎红纤维;28例SDH染色可见破碎蓝纤维,氧化酶活性明显增高;26例可见肌间小动脉血管壁深染(strongly succinatedehydrogenase-reactive,SSV),即SSV现象,其中2例未见到破碎蓝纤维和破碎红纤维;22例COX染色光镜下见到氧化酶活性消失或减低,即COX阴性肌纤维。15例患者行电镜检查,均可见到线粒体的数量和结构异常,线粒体内结晶样包涵体呈“停车场”样排列。结论破碎红纤维(RRF)、SSV现象和COX阴性肌纤维是MELAS综合征主要的肌肉活检病理改变;线粒体内结晶样包涵体呈“停车场”样排列是MELAS综合征电镜的典型改变,这些特征对MELAS综合征的诊断具有十分重要的价值。Objective To investigate the muscle pathology and electron microscopy characteristics of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode.Methods Muscle pathology and electron microscopy data from 33 cases of MELAS syndrome confirmed by muscle pathology and gene sequencing in the Fifth Affiliated Hospital of Zhengzhou University and the First Affiliated Hospital of Zhengzhou University from January 2013 to January 2019 were collected and analyzed retrospectively.Results RRF were found in 25 cases under the light microscope by modified Gomori staining.Ragged-blue fibers(RBF)were found in 28 cases by SDH staining,and the activity of oxidase was increased.In 26 cases,the arterial walls of intermuscular arterioles were strongly SDH-reactive,suggesting SSV phenomenon,in which 2 cases RBF and RRF were not seen.The activity of oxidase was disappeared or decreased in 22 cases by COX staining,indicating COX negative muscle fiber.Fifty patients were examined by electron microscopy,the number and structural abnormalities of mitochondria were observed.Besides,the crystalline inclusion bodies in mitochondria were arranged in a“parking lot”pattern.Conclusion RRF,SSV phenomenon and negative muscle fiber by COX staining were the main pathological changes of muscle in MELAS syndrome.The inclusion of the crystalline inclusions in the mitochondria was a“parking lot”arrangement,which was a typical change in the electron microscope of MELAS syndrome.These characteristics were very important for the diagnosis of MELAS syndrome.

关 键 词：线粒体脑肌病伴高乳酸血症和卒中样发作综合征 肌肉病理 电镜 特征 

分 类 号：R746[医药卫生—神经病学与精神病学]