线粒体脑肌病伴高乳酸血症和卒中样发作综合征的临床特点(附1例报告)

Clinical features of mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes syndrome(report of 1 case)

目的分析典型线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)综合征的临床特点。方法回顾性分析1例典型MELAS综合征的临床资料。结果本例患者以言语混乱、行为异常等卒中样症状发病,有母系家族史,病程中有头痛及癫痫样发作。入院查体示听力下降,视野缺损,肌力下降。头颅CT及MRI提示卒中样病灶,且病灶不按血管走行分布。血及CSF检查排除病毒性、自身免疫性脑炎,最终经基因检测分析(mt DNA的A3243G位点AG突变)明确诊断为MELAS综合征。结论 MELAS综合征临床表现主要包括卒中样发作、癫痫、头痛、痴呆、听力损伤、周围神经病变、肌病、乳酸血症、糖尿病等,影像学表现主要包括卒中样病灶、基底节钙化及脑萎缩。

Objective To explore the classical clinical features of mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes（ MELAS） syndrome. Methods The clinical data of 1 MELAS syndrome patient was analyzed retrospectively. Results This patient suffered from the symptoms of stroke such as speech disorder and abnormal behavior at the beginning. She had a medical history of maternal family. There were headache and seizure in the process of the disease. The result after a physical examination showed that the patient had hearing loss,visual field defect and decrease of muscle strength. The CT and MRI scan of head showed that the patient had a stroke like lesion which did not follow the distribution of blood vessels. The blood and cerebrospinal fluid examination has ruled out viral and autoimmune encephalitis. The final diagnosis of MELAS syndrome was confirmed by gene analysis. The gene mutation was the m. 3243 A G mutation. The clinical symptoms of the patient were comprehensive and the imaging findings were typical. Conclusions Main clinical manifestations of MELAS syndrome are stroke like seizures,epilepsy,headache,dementia,hearing impairment,peripheral neuropathy,myopathy,lactic acidosis,diabetes and so on. Main imaging features of the disease are stroke like lesions,basal ganglia calcification and brain atrophy.