[1]周露玲,周莉,白雪,等.15例MELAS综合征临床分析[J].卒中与神经疾病杂志,2022,29(04):369-372,376.[doi:10.3969/j.issn.1007-0478.2022.04.013]
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15例MELAS综合征临床分析()
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《卒中与神经疾病》杂志[ISSN:1007-0478/CN:42-1402/R]

卷:
第29卷
期数:
2022年04期
页码:
369-372,376
栏目:
论著
出版日期:
2022-09-10

文章信息/Info

文章编号:
1007-0478(2022)04-0369-05
作者:
周露玲周莉白雪吴博文谭永君杨琴
400016 重庆市九龙坡区第二人民医院神经内科(周露玲); 重庆医科大学附属第一医院神经内科[周莉 白雪 吴博文 谭永君 杨琴(通信作者)]
关键词:
线粒体脑肌病伴高乳酸血症和卒中样发作综合征核磁共振成像肌肉活检基因检测误诊
分类号:
R741
DOI:
10.3969/j.issn.1007-0478.2022.04.013
文献标志码:
A
摘要:
目的 探讨线粒体脑肌病伴高乳酸血症和卒中样发作(Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes,MELAS)综合征的临床表现、核磁共振成像(Magnetic resonance imaging,MRI)特征、肌肉病理表现、基因突变特点、易误诊疾病,以提高临床医生对该病的认识。方法 回顾性分析本院2015年1月-2020年12月收治的15例MELAS综合征患者的临床资料。结果 15例MELAS综合征患者平均发病年龄30岁,临床表现中具有脑卒中样发作10例,癫痫11例,精神异常7例,认知功能下降6例,视力异常6例,听力异常2例,头痛8例,呕吐3例。MRI以颞顶枕叶病灶多见,不符合脑血管分布,且病灶呈“游走性”。15例患者均有静止性乳酸水平升高。15例肌肉活检可见典型破碎红纤维; 3例行基因检测,3例mtDNA A3243G突变; 曾误诊疾病:脑炎8人次,脑梗死4人次,继发性癫痫3人次,可逆性后部脑白质病变1人次。结论 临床上MELAS综合征极易漏诊、误诊,需结合临床表现、MRI特征、肌肉活检、基因检测协助诊断。

参考文献/References:

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备注/Memo

备注/Memo:
基金项目:国家自然科学基金面上项目(81671309; 81971229)
更新日期/Last Update: 2022-09-10