摘要
目的分析MELAS型线粒体脑肌病患者的临床表现、影像学结果和基因学检测特点,为MELAS型线粒体脑肌病的诊断提供依据。方法回顾性分析2013年1月至2018年1月本院神经内科收治的7例MELAS型线粒体脑肌病患者的临床资料,并作为MELAS组,选取同期14名体检健康者作为对照组。比较两组临床资料,并分析MELAS组患者临床表现、影像学结果和基因学检测特点。结果MELAS组BMI与对照组比较,差异具有统计学意义(P<0.05);MELAS组乳酸、乳酸脱氢酶、肌酸激酶CK、肌酸激酶同工酶CK-MB与对照组比较,差异均具有统计学意义(P<0.05)。MELAS组患者病变主要位于大脑皮层,多发生在颞顶枕叶,同时,伴有双侧基底节区钙化为本病主要影像学特征;MELAS组患者发生mtDNA位点突变为A3243G。结论结合临床表现、影像学结果和基因学检测可诊断MELAS型线粒体脑肌病。
Objective To analyze the clinical manifestations,imaging results and genetic detection characteristics of MELAS type mitochondrial encephalomyopathy,and to provide the basis for the diagnosis of MELAS type mitochondrial encephalomyopathy.Methods From January 2013 to January 2018,the clinical data of 7 patients with MELAS type mitochondrial encephalomyopathy in the Department of Neurology of our hospital were analyzed retrospectively,and as MELAS group,14 healthy persons were selected as the control group.The clinical data of the two groups were compared,and the clinical manifestations,imaging results and genetic detection characteristics of MELAS group were analyzed.Results BMI of the MELAS group was statistically significant compared with that of the control group(P<0.05).Compared with the control group,lactate dehydrogenase,creatine kinase CK and creatine kinase isoenzyme CK-MB in the MELAS group showed statistically significant difference(P<0.05).The lesions are mainly located in the cerebral cortex,mostly in the temporal parietal occipital lobe,accompanied by calcification of bilateral basal ganglia as the main imaging characteristics of the disease.mtDNAmutation in MELAS group isA3243G.Conclusion MELAS type mitochondrial encephalomyopathy can be diagnosed by combining clinical manifestations,imaging results and genetic detection.
作者
钟真真
徐平
Zhong Zhenzhen;Xu Ping(Department of Neurology,First People's Hospital of Changde City,Changde,Hunan,415003,China)
出处
《当代医学》
2020年第25期23-25,共3页
Contemporary Medicine
基金
湖南省卫生计生委科研计划项目(C2017086)。
关键词
线粒体脑肌病
临床
影像
基因学
Mitochondrial encephalomyopathies
Pathology clinical
Imaging
Genetics
