3例线粒体脑肌病伴高乳酸血症及卒中样发作患者的临床分析

Clinical analysis of three patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes

目的 探讨线粒体脑肌病伴高乳酸血症及卒中样发作(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes,MELAS)患者的临床特征、影像学及分子遗传学特点。方法 回顾性分析 3例 MELAS患者的临床及影像学特征、分子遗传检测结果以及临床治疗效果,进而总结MELAS患者的临床特点。结果 3例患者均表现为头痛、卒中样发作、运动不耐受、症状性癫痫、血乳酸运动负荷试验阳性,其中2例患者存在感音性耳聋,1例患者同时患心肌病,1例患者表现精神异常、痴呆及糖尿病。头部MRI可见与主要脑血管分布不相应的梗死灶,MRS病变区可见乳酸峰。3例患者均经分子遗传检测证明为m. 3243A>G突变。结论 MELAS是线粒体脑肌病最常见的类型,多在青少年起病,起病症状复杂多样,常见的有头痛、卒中样发作、癫痫,有时可伴发听力下降、心肌病、发育迟缓、糖尿病等。尽早完成分子遗传学检测有助于早期明确诊断,早期干预可获得一定疗效并改善预后。

Objective To investigate clinical,imaging and molecular genetic characteristics in 3 patients of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). Methods Clinical and imaging features,molecular genetic testing results and clinical treatment effects of 3 patients with MELAS were retrospectively analyzed,and clinical characteristics of MELAS patients were summarized. Results All the 3 patients showed headache,apoplexy,exercise intolerance,symptomatic epilepsy,and positive blood lactic acid exercise load test,among which 2 patients had sensorineural deafness,1 patient had cardiomyopathy at the same time,and 1 patient had mental disorder,dementia,and diabetes. Cerebral MRI showed infarcts not corresponding to the distribution of main cerebral blood vessels,and lactic acid peaks were seen in the MRS lesion area. All the 3 patients were proved to have the mutation of m. 3243A>G by molecular genetic testing. Conclusion MELAS is the most common type of mitochondrial encephalomyopathy,and it often occurs in adolescents with complex and diverse onset symptoms,including headache,apoplexy,epilepsy,sometimes accompanied by hearing loss,cardiomyopathy,developmental delay,diabetes,etc. Early completion of molecular genetic testing is helpful for early diagnosis,early intervention can obtain some curative effect and improve the prognosis.