张忠胜?石喆

【摘要】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。

【关键词】线粒体脑肌病;小脑萎缩;卒中样发作;病例报告

MELAS syndrome complicated with cerebellar atrophy： a case report Zhang Zhongsheng， Shi Zhe. Department of Neurology， the 6th Affiliated Hospital of Guangzhou Medical University （Qingyuan Peoples Hospital）， Qingyuan 511518， China Corresponding author， Shi Zhe， E-mail： 15580791949@ 163. com

【Abstract】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.

【Key words】Mitochondrial encephalomyopathy;Cerebellar atrophy;Stroke-like episode;Case report

線粒体脑肌病是一种由线粒体DNA或核DNA缺陷导致线粒体结构和功能障碍，使肌纤维和脑神经细胞ATP生成不足而引起的肌肉和（或）脑的病变。本病有多种类型，其中以Pavlakis等[1]在1984年首次描述的线粒体脑肌病伴高乳酸血症和卒中样发作（MELAS）为最多见。MELAS临床表现多样，缺乏特异性。现报道我院收治的伴小脑萎缩的成人MELAS综合征1例，旨在提高临床医师对该病的认识，减少误诊误治。

病例资料

一、主诉与病史

患者女，33岁。因头痛3 d、视物不清2 d于2020年4月5日入我院。患者于入院前3 d无明显诱因出现头痛，为左侧颞枕部持续性胀痛。入院2 d前开始出现视物不清，伴精神烦躁、反应迟钝。于当地诊所接受止痛、补液等对症处理后病情无明显好转，遂来我院。……