五例MELAS综合征的临床分析

Clinical analysis of 5 patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes

目的 报道5例线粒体脑肌病伴乳酸酸中毒和卒中样发作（MELAS）综合征患者的临床、肌肉病理表现和近期随访结果。方法 回顾性分析安徽中医学院神经病学研究所附属医院神经内科自2008年12月至2011年6月5例MELAS综合征患者的临床表现、血清酶学、电生理、影像学、肌肉活检组织病理及近期随访的结果。结果 3例首发症状为头痛，以偏瘫和上消化道出血为首发症状各1例，病程中有全身抽搐发作4例，精神症状2例。肌酸激酶4例正常，1例轻度升高。肌电图4例未见异常，1例肌源性损害。头颅MRI示5例均有明显异常，以永久性脑梗死和脑萎缩为主。肌肉组织病理检查5例均发现强反应性血管（SSVs），且SSVs的细胞色素C氧化酶的酶活性增强。经过线粒体保护等综合治疗，随访6个月3例已恢复到能正常工作，2例病情轻度好转。结论 MELAS综合征患者的头颅MRI均有明显异常，肌活检组织病理及组织酶学染色是诊断该病关键手段，一般预后良好。

Objective To explore the clinical data, muscle pathological findings and recent follow-up results of 5 patients being diagnosed as having mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes （MELAS）. Methods A retrospective analysis was carried out on the clinical manifestations, sero- enzymology, electrophysiology, iconography and muscle biopsy pathology, and recent follow-up results of 5 patients with MELAS, who admitted to our hospital from December 2008 to June 2011. Results Headache as first symptom appeared in 3 patients, hemiparesis as first symptom in 1 patient and upper gastrointestinal bleeding in 1. The total body seizure in the course was noted in 4 patients and psychiatric symptoms in 2. The creatine kinase level was normal in 4 with one being mildly elevated. Four patients were observed no abnormal electromyography with one having myogenic lesions. Brain MRI showed significant abnormality in 5 patients, mainly presented as permanent cerebral infarction and cerebral atrophy. Five patients were found strongly SDH-reactive blood vessels （SSVs） in muscle tissue pathological staining and the SSVs of CCO （＋）. After mitochondrial protection treatment, follow-up for six months showed that 3 patients has been restored to normal work and mildly improvement was noted 2 patients. Conclusion The brain MR imaging of 5 patients with MELAS is significantly abnormal, and muscle biopsy pathology and tissue enzymatic staining are important methods in diagnosing the disease; generally, the disease is a benign course.