线粒体脑肌病伴高乳酸血症和卒中样发作的临床及MRI分析  

作　　者：王国松[1] 江茜[1] 孔一曼 朱观祥[1] 

机构地区：[1]浙江省绍兴市中医院,312000 [2]浙江大学附属第二医院,312009

出　　处：《浙江临床医学》2019年第9期1226-1228,共3页Zhejiang Clinical Medical Journal

摘　　要：目的探讨线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)的临床特点及MRI特征.方法收集28例经临床和(或)肌肉活检和(或)基因检测证实的MELAS患者,分析其临床表现特点和MRI的影像特征及各序列间诊断价值.结果男女比例1.2∶1,中位年龄28岁.发作期最常见神经症状是精神行为异常20例(71.4%),头痛17例(60.7%),癫痫发作15例(53.6%);非神经症状是糖尿病病史18例(64.3%),呕吐10例(35.7%),偏盲和斜视、视力下降6例(21.4%),偏瘫4例(14.3%),发热和听力下降各3例(10.7%).实验室检查发现运动前血乳酸增高达96.4%,另运动后比运动前高25%.脑电图检查可以是轻度、中度、重度异常.基因检测发现A3243G位杂合突变.肌肉活检发现线粒体数量和形态异常,并见破碎红纤维(RRF).MRI主要表现为较广泛的大脑皮层及皮层下不按供血血管分布的长T1、长T2异常信号,DWI呈高信号,ADC随病程发展信号复杂,病灶均未见明显增强.MRS出现典型的乳酸双峰.结论MELAS患者除线粒体脑肌病(ME)的临床特征表现外,还表现为高乳酸血症和卒中样发作,MRI各序列在疾病诊断方面有较高的价值,最终诊断靠肌肉活检和基因检测.Objective To investigate the clinical manifestations and pathogenesis of mitochondrial encephalomyopathy,lactic acidosis and stroke-like attack(MELAS)and to value the MRI examination sequence. Methods The clinical features,pathogenesis,imaging features of MRI and value analysis between sequences were analyzed retrospectively in 28 patients with MELAS which were confirmed by clinical and / or muscle biopsy and/or/or gene testing. Results The ratio of male to female was 1.2∶1,with a median age of 28 years. The most common neurological symptoms during the stage of attack was respectively abnormal mental behavior(20 cases,71.4%),headache(17 cases,60.7%)and epilepsy(15 cases 53.6%). Non -neurological symptoms were respectively the history of diabetes mellitus(18 cases,64.3%),vomiting(10 cases,35.7%),hemianopia and strabismus,vision loss(6 cases,21.4%),hemiplegia(4 cases,14.3%),fever and hearing loss(3 cases each item,10.7% each). Laboratory tests showed that increasing blood lactic acid before exercise accounted for 96.4% and 25% had higher blood lactic acid after exercise than before exercise. The manifestations of EEG could be mild,moderate and severe abnormalities. Gene detection revealed A3243G heterozygous mutation. Muscle biopsy revealed abnormal mitochondrial number and morphology and broken red fiber(RRF). MRI mainly showed long T1 and long T2 abnormal signals which were not distributed according to the blood supply vessels in the cerebral cortex and subcortical areas DWI showed high signals,ADC signals were more complicated with the course of the disease,and the lesions were not significantly enhanced. MRS showed typical lactic acid bimodal. Conclusion In addition to the clinical features of mitochondrial encephalomyopathy(ME),MELAS patients also shows lactic acidosis and stroke-like attacks. MRI sequences have high value in the diagnosis of diseases and each sequence has its own role. The final diagnosis depends on muscle biopsy and gene detection.

关 键 词：线粒体脑肌病 MELAS综合征 卒中样发作 临床 磁共振成像 

分 类 号：R746[医药卫生—神经病学与精神病学]