双胎兄弟MELAS综合征的临床特点

发布时间：2018-04-10 09:19

本文选题：线粒体脑肌病伴高乳酸血症　切入点：卒中样发作综合征　出处：《临床儿科杂志》2017年01期

【摘要】：目的探讨异卵双胎兄弟同患线粒体脑肌病伴乳酸血症与卒中样发作综合征(MELAS)的临床特点。方法回顾分析1对异卵双胞胎兄弟同患MELAS病例的临床表现、实验室检查、脑电图、影像学、基因检测结果及诊疗过程。结果先证者,男,7岁时以间断头痛、呕吐、抽搐起病,既往运动不耐受、易疲劳,伴有身材矮小、皮肤多毛,空腹血乳酸值增高,多次视频脑电图背景活动慢化,头颅磁共振成像示随病情反复发作病灶具有迁徙、易变,mtDNA A3243G点突变率34.7%,确诊MELAS。同期筛查同胞异卵弟弟A3243G突变率30%,但无临床症状,间隔3年后以抽搐起病。结论早期基因检测并筛查家系有助于MELAS的诊断,A3243G突变率高,起病年龄早,临床症状重。
[Abstract]:Objective to investigate the clinical features of maleic encephalomyopathy with lactoacidemia and stroke-like attack syndrome (Mel ASS) in heterozygotic twins.Methods the clinical manifestation, laboratory examination, electroencephalogram, imaging, gene test and diagnosis and treatment of a pair of fraternal twins with MELAS were retrospectively analyzed.Results the proband had intermittent headache, vomiting, convulsion, previous motor intolerance, easy fatigue, short stature, hairy skin, high fasting blood lactic acid value, slow motion of video EEG background when he was 7 years old.Cranial magnetic resonance imaging showed that there was migration of the lesion with recurrent attack, and the mutation rate of mtDNA A3243G was 34. 7%, and MELAS was diagnosed.The mutation rate of sibling heterozygote A3243G was 30%, but had no clinical symptoms.Conclusion early gene detection and screening is helpful to the diagnosis of MELAS with high mutation rate of A3243G, early onset age and severe clinical symptoms.
【作者单位】：临沂市人民医院儿内科;
【分类号】：R746

【相似文献】