MELAS综合征的临床、影像、病理及基因研究  

Clinical Features,Image,Pathology and Genetic Sdudy in MELAS

作　　者：姚生[1] 雷霞[1] 戚晓昆[1] 王朝霞[2] 袁云[2] 

机构地区：[1]北京海军总医院神经内科,北京100037 [2]北京大学第一医院神经内科,北京100034

出　　处：《中国神经免疫学和神经病学杂志》2008年第4期242-245,323,共5页Chinese Journal of Neuroimmunology and Neurology

摘　　要：目的 探讨线粒体脑肌病伴乳酸血症和脑卒中发作（MELAS综合征）的临床、影像、病理以及基因改变特点。方法 收集海军总医院与北京大学第一医院神经内科1998-2005年确诊的MELAS综合征21例,其中家系患者5例,散发患者16例,发病年龄为2-45岁。所有患者均行头颅影像学检查,18例行骨骼肌病理检查,3例行脑病理检查,17例行线粒体DNA（mtDNA）A3243G点突变检查。结果 21例患者均出现脑卒中样发作,家系患者的母系成员中多出现母系遗传性糖尿病和（或）耳聋。主要临床表现为认知功能障碍及言语障碍,头颅影像学检查示枕叶、颞叶脑回受累为主。18例行肌肉病理检查显示17例存在破碎样红纤维（RRF）,3例行肌肉电镜检查发现线粒体堆积呈停车场样排列,3例脑活检示病变皮层组织呈分层样改变,15例发现mtDNAA3243G点突变。结论 MELAS综合征主要累及中枢神经系统和骨骼肌,认知功能障碍、言语障碍和头痛是其主要临床表现,肌肉病理检查可见RRF,绝大多数为mtDNAA3243G点突变。Objective To study the clinic, image, pathology and genetic change of the mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke （MELAS Syndrome）. Methods There were 21 MELAS cases from Navy General Hospital and First Hospital of Peking University, 5 of which were family patients and 16 sporadic cases. The age of onset was between 2 and 45 years old. All of them had head imageological exam, 18 cases were performed muscle biopsy and 3 brain biopsy. 17 cases had the mtDNA A3243G point mutation screening. Results All the 21 cases had stroke history. Maternal inheritance diabetes mellitus and （or） deafness appeared in the maternal line members of the family patients. Cognition disturbance and allolalia were the chief clinical manifestations. The imageology showed that the impairment involved occipital lobe and temporal lobe most. 17 cases presented red-ragged-fibres （RRF） and parking lot -like ultrastructure in 3 cases. Brain biopsy showed layerage structure. There were 15 of them carried mtDNA A3243G mutation. Conclusions MELAS Syndrome usually involved central nerve system and skeletal muscle. Cognition functional disturbance, headach and allolalia were the chief clinical manifestations. RRF appears as the muscle pathological feature. Most of the patient carry mtDNA A3243G mutation.

关 键 词：线粒体脑肌病伴随乳酸血症和脑卒中发作(MELAS综合征) 影像学 病理特点 线粒体DNA A3243G突变 

分 类 号：R741.02[医药卫生—神经病学与精神病学]