MELAS综合征的临床、影像和病理研究  

Clinical,imaging and pathological findings in MELAS syndrome

作　　者：白润涛[1] 韩漫夫[1] 葛朝莉[1] 冯宏业[1] 

机构地区：[1]广东省深圳市第二人民医院神经科,518000

出　　处：《疑难病杂志》2010年第11期814-816,F0003,共4页Chinese Journal of Difficult and Complicated Cases

摘　　要：目的总结MELAS综合征的临床、影像学与神经病理学特点,并探讨该病发病机制和诊断标准。方法回顾性分析4例MELAS综合征的临床表现、影像学特征和脑组织病理和基因特点。结果 4例患者临床症状呈卒中样起病,影像学检查表现为枕叶、颞叶皮质受累为主。2例肌肉病理检查可见破碎样红纤维。神经病理可见大脑皮质出现多部位的海绵样改变。其改变累及不同脑叶的大脑皮质,其中以枕叶改变最为明显。1例患者mtDNA A3243G点突变,1例患者mtDNA G13513A点突变。结论 MELAS综合征主要累及中枢神经系统和骨骼肌,诊断的金标准仍然是病理检查、生化检测及基因检测结果与临床表现相结合的综合性诊断标准。Objective To summarize the clinical,imaging and pathological characteristics of MELAS syndrome, and investigate the nosogenesis and diagnostic criteria of MELAS syndrome.Methods Retrospectively analyzed the clinical data,imaging findings,neuropathology results and gene features of 4 cases which were diagnosed of MELAS syndrome.Results All of the 4 cases had stoke history.The image findings showed that the impairment mainly involved occipital lobe and temporal lobe.Pathological results showed that two cases presented red ragged fibres （RRF）.The neuropathological results showed bibulous changes appeared in cerebral cortex.These changes mainly found in occipital lobe.There was 1 case carried mtDNA A3243G mutation,another 1 case carried mtDNA G13513A mutation.Conclusion MELAS syndrome mainly involved central nerve system and skeletal muscle.The golden standard of diagnosis are the comprehensively combination of neuropathology,biochemistry,gene and clinical characteristics.

关 键 词：MELAS综合征 神经病理 影像学 基因 

分 类 号：R746[医药卫生—神经病学与精神病学]