MELAS综合征临床、影像、脑电图及基因特点分析

Clinical features,image,electroencephalogram and genetic study in twelve melas patients

目的探讨MELAS综合征的临床症状、影像学和脑电图表现及基因突变特点,提高临床对疾病的认识。方法本研究共纳入MELAS综合征患者12例,收集其一般临床资料,分析其临床症状、颅脑影像学结果、脑电图表现及基因突变特点。结果 12例患者平均起病年龄28岁,临床主要表现为癫痫发作(66.7%)、卒中样发作(50.0%)、认知功能下降以及精神行为异常(41.7%)、糖尿病或糖耐量异常(41.7%)、听力损害(41.7%)等;影像学检查病灶呈长T1、长T2、DWI高信号改变,主要分布在枕、颞、顶叶,6例MRS检查中5例出现异常乳酸峰,8例脑电图检查主要表现为全脑弥漫性慢波或癫痫样放电,9例基因检测均为A3243G点杂合突变。结论MELAS综合征临床表现多样,颅脑影像学、脑电图检查特异性有限,MRS成像中异常乳酸峰可提示诊断,A3243G为最常见突变类型。

Objective The aim of this article is to study the clinical features, image, electroencephalogram and gene mutation of mitochondrial encephalomyopathy with MELAS and to improve understanding of the disease. Methods Clinical data was collected from 12 MELAS cases. Their clinical symptoms, head imageological result, electroencephalogram and gene mutation were analyzed. Results The average onset age was 28 years old. The main manifestations of 12 patients were epilepsy （66.7%）, stroke-like episodes （50.0%）, mental behavious disorder and decrease of perceive （41.7%）,diabetes or abnormal glucose tolerance （41.7%）, hearing impairment （41.7%）. The imaging results showed long T1, long T2 and high signals on DWI. The nidus involved occipital lobe, temporal lobe, parietal lobe most. Five of six cases undergoing MRS imaging had large lactate peak at 1.33 ppm. There were 9 cases carrying mtDNA A3243G mutation. Conclusion The clinical presentation of MELAS is highly variable without any obvious specificity on MRI and EEG. Large lactate peak on MRS may indicate the disease. Most patients carry A3243G mutation.