摘要：目的 分析MELAS综合征主要临床特点及其MRI表现,提高对MELAS早期诊断的能力.方法 回顾性分析4例MELAS综合征临床表现及实验室检查、影像学特点.结果 高乳酸血症和卒中样发作是其主要临床特点,MRI表现为不符合脑血管分布的多发长T1长T2信号,肌活检可见蓬毛样红纤维(RRF).结论 MELAS综合征的MRI具有特征表现,血清乳酸水平显著增高,结合典型临床特点,可提高该病的早期诊断率. Abstract： Objective To study the clinical features and MRI manifestation of MELAS syndrome, improving the rate of early diagnosis. Methods To analyze the clinical manifestation, laboratory examination and MRI features. Results Increased lactate level and stroke-like episodes were the main clinical features, MRI manifests multiple long T1 and T2 signals which were not consistent with the main distribution of cerebral vessels,muscle biopsy with the modified gomoritrichrome method showed "ragged red"fibers (RRF). Conclusions MELAS syndrome had characteristic manifestation with MRI, increased serumlactate level, to combine together with its classic clinical features, we can improve the early diagnosis rate.

关键词：线粒体脑肌病 melas 综合 临床分析 clinical 

单位：郑州大学第一附属医院神经内科 450052 U