伴小脑萎缩的线粒体脑肌病MELAS一例

线粒体脑肌病伴高乳酸血症和卒中样发作（MELAS）是一种少见的遗传性疾病,可累及机体多系统。该病主要临床表现为头痛、癫痫、耳聋、皮质盲及认知功能下降等。MELAS呈卒中样发作,临床易误诊为脑梗死及脑炎,目前尚缺乏特效治疗方法。该文报道1例33岁女性MELAS 患者,其以突发头痛、视物不清为首发症状,伴有不完全感觉性失语、听力下降、不能耐受疲劳,急诊颅脑CT显示双侧小脑半球萎缩,入院后经外周血基因检查明确MELAS诊断,予辅酶Q10胶囊、艾地苯醌及维生素E治疗。患者病情好转后出院,随访3个月病情稳定。该病例提示临床医师应提高对MELAS的认识,注意鉴别诊断,避免漏诊或误诊。

MELAS syndrome complicated with cerebellar atrophy: a case report

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes （MELAS） is a rare hereditary disease, which can involve with multiple systems. The main clinical manifestations of MELAS consist of headache, epilepsy, deafness, cortical blindness and cognitive decline, etc. MELAS presents with a stroke-like episode, which is easily misdiagnosed as cerebral infarction and encephalitis. No specific treatment has been available at present. In this article, one 33-year-old female with MELAS was reported, presenting with sudden headache and blurred vision as the first symptoms, accompanied by incomplete sensory aphasia, hearing loss, and intolerance of fatigue, etc. Emergency brain CT scan showed bilateral cerebellar atrophy. The diagnosis of MELAS was confirmed by peripheral blood genetic examination. Coenzyme Q10 capsules, idebenone tablets and vitamin E were given. The patient was discharged after improvement of the disease and remained physically stable after 3 months of follow-up. This case prompts that doctors should deepen the understanding of MELAS, pay attention to differential diagnosis and avoid missed diagnosis or misdiagnosis.