以癫痫发作为主要临床表现的线粒体脑肌病患者的临床及MRI特点分析

Clinical and MRI features of mitochondrial encephalomyopathy patients with seizure as the main clinical manifestation

目的探讨总结以癫痫发作为主要临床表现的线粒体脑肌病的临床及脑部MRI表现特点,以提高对其认识及诊断正确率。方法回顾性分析7例临床确诊的以癫痫发作为主要临床表现的线粒体脑肌病患者的临床表现、简易乳酸运动试验、脑部MRI表现特点,进行分析总结。结果 7例患者中男性3例,女性4例,年龄最大者39岁,最小者13岁,7例均有长期反复发作四肢抽搐病史,伴视物模糊1例,肢体乏力1例;7例患者行简易乳酸运动试验,6例患者高于正常参考值;7例患者脑部MRI均显示为大脑半球受累,6例为双侧大脑半球,其中颞、顶、枕叶较额叶多见,3例皮层受累为主,4例皮层及皮层下白质受累,1例累及双侧基底节区及右侧小脑半球,出现软化灶及脑萎缩;6例患者行多体素磁共振波谱成像检查,5例局部病变区可见乳酸峰;5例扩散加权成像提示病变区轻度扩散受限;2例患者行增强扫描,病变区皮层呈脑回样强化。结论以癫痫发作为主要临床表现的线粒体脑肌病的临床及脑部MRI特点多不典型,易于与其他疾病相混淆,诊断较困难,综合分析病史、简易乳酸运动试验、脑部MRI表现特点,有助于提高对疾病的认识和诊断的正确率。

Objective To explore the clinical and brain MRI features of mitochondrial encephalomyopathy（ME）with seizure as the main clinical manifestation, so as to improve the accuracy of the diagnosis.Methods The clinical data and brain MRI findings of 7 cases with clinically diagnosed ME with seizure as the main clinical manifestation were analyzed retrospectively.Results Among the 7 cases, 3 were male and 4 were female, age ranging from 13-39 years old. All patients had history of long-term recurrence of limbs＇ convulsion, one had blurred vision and one had debility; the lactate level elevated in 6 cases, and brain MRI showed cerebral hemisphere involvement in all cases, wherein 6 patients suffered from bilateral cerebral hemisphere involvement, 4 cases involved both cortical and subcortical white matter, and bilateral basal ganglia and right cerebellar hemisphere were involved in 1 case, causing the formation of transformation foci and brain atrophy. The multivoxel proton MRS examination findings of 5 patients showed lactate peak in the lesion area, the diffusion weighted imaging of 5 cases showed mild restricted diffusion, and the enhanced scan findings of 2 patients showed gyrus-like enhancement in the cortex of the lesion area.Conclusion The clinical and brain MRI features of ME patients with epilepsy as the main symptom are not typical, and is easy to be confused with other diseases. Comprehensive analysis of the history, simple lactate exercise test result and brain MRI finding is helpful to improve the diagnosis of the disease.