MELAS综合征的MRI诊断价值--附两例报告并文献复习

The Diagnostic Value of MRI in MELAS Syndrome——Two Case Reports and Literature Review

探究线粒体脑肌病伴高乳酸血症和卒中样发作(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode,MELAS)综合征的磁共振成像(magnetic resonance imaging,MRI)表现特点,提高对MELAS综合征早期诊断的能力.回顾分析两例经临床检查和病理检查确诊为MELAS综合征患者的MRI表现.结果显示,两例MELAS综合征患者的脑部病灶均表现为长T1,长T2信号,T2-FLAIR及DWI高信号,病变主要累及顶枕叶皮层及皮层下区,甚至小脑半球,病灶具有多变性、反复性、游走性、此起彼伏的特点,与血管支配区分布不一致,并出现与年龄不相符的全脑萎缩.研究发现,MELAS综合征的脑部MRI表现具有一定的特征性,MRI检查对MELAS综合征的诊断具有重要提示价值,结合肌肉活检可明确诊断该疾病.

Exploring the magnetic resonance imaging(MRI)characteristics of mitochondrial encephalomyopathy with hyperlipidemia and stroke like episode(MELAS)syndrome,in order to improve the early diagnosis of MELAS syndrome.Retrospective analysis of MRI findings in two patients diagnosed with MELAS syndrome through clinical and pathological examination.The results showed that the brain lesions of two patients with MELAS syndrome showed long T1,long T2 signals,T2-FLAIR,and DWI high signals.The lesions mainly affected the parietal and occipital cortex,subcortical areas,and even the cerebellar hemisphere.The lesions had characteristics of variability,recurrence,migration,and fl uctuation,inconsistent with the distribution of vascular innervation areas,and presented with age-matched whole brain atrophy.Research has found that the brain MRI manifestations of MELAS syndrome have certain characteristics,and MRI examination has important diagnostic value for MELAS syndrome.Combined with muscle biopsy,the disease can be clearly diagnosed.