线粒体脑肌病伴高乳酸血症和卒中样发作综合征的临床特点附1例报告.pdfVIP

临床神经病学杂志2017年第30卷第4期 ·261· ·论著 · 线粒体脑肌病伴高乳酸血症和卒中样发作 综合征的临床特点(附1例报告) 李亚明, 高佳佳, 葛宇星 　 　 【摘要】　 目的　 分析典型线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)综合征的临床特点。 方法 回顾性分析1例典型MELAS综合征的临床资料。 结果　 本例患者以言语混乱、行为异常等卒中样症状发病, 有母系家族史,病程中有头痛及癫痫样发作。 入院查体示听力下降,视野缺损,肌力下降。 头颅CT及MRI提 示卒中样病灶,且病灶不按血管走行分布。 血及 CSF检查排除病毒性、自身免疫性脑炎,最终经基因检测分 析(mtDNA 的A3243G位点AG突变)明确诊断为MELAS综合征。 结论　 MELAS综合征临床表现主要包括 卒中样发作、癫痫、头痛、痴呆、听力损伤、周围神经病变、肌病、乳酸血症、糖尿病等,影像学表现主要包括卒中 样病灶、基底节钙化及脑萎缩。 【关键词】　 线粒体脑肌病伴高乳酸血症和卒中样发作; 临床特点 【中图分类号】 R742　 　 　 【文献标识码】 A　 　 　 【文章编号】 1004-1648(2017)04-0261-06 Clinical features of mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes syndrome (report of 1 case)　 LI Ya-ming,GAO Jia-jia,GE Yu-xing. Department of Neurology,Tenth People’s Hospital of Tongji University,Shanghai200072,China Abstract: Objective　 To explore the classical clinical features of mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) syndrome. Methods　 The clinical data of 1 MELAS syndrome patient was analyzed retrospectively. Results　 Thispatient sufferedfromthesymptomsof strokesuchasspeechdisorderand abnormal behavior at the beginning. She had a medical history of maternal family. Therewere headache and seizure in the process of the disease. Theresult after aphysical examination showedthat thepatient hadhearingloss,visual field defect and decrease of muscle strength. The CT and MRI scan of head showedthat thepatient had a strokelike lesion which did not follow the distribution of bloodvessels. The blood and cerebrospinal fluid examination hasruled out viral and autoimmune encephalitis. Thefinal diagnosisof MELASsyndromewasconfirmedby geneanalysis. The gene mutation was the m.3243A G mutation. The clinical symptoms of the patient were comprehensive and the imaging findings were typical. Con