目的：提高临床对线粒体脑肌病伴高乳酸血症和卒中样发作（mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode，MELAS）综合征的认识。
方法：报道1例MELAS综合征患者的临床表现和诊疗经过，并结合文献复习对MELAS综合征的发病机制、临床表现、诊断和治疗进行探讨。
结果：MELAS综合征是线粒体疾病的一种类型，主要累及脑和肌肉组织并伴有卒中样发作，在临床上应与脑炎和脑梗死进行鉴别。早期诊断和治疗有助于阻止病情的进一步发展。
结论：MELAS综合征的临床表现复杂多样，远期预后较差，死亡率较高，因此早期诊断和治疗对于改善患者的预后和生活质量均具有重要的临床意义。
Abstract
Objective: To improve the understanding of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode (MELAS) symdrom in clinical practice.
Methods: The clinical manifestations, diagnosis and treatment of one case with MELAS syndrome were reported. The pathogenesis, clinical manifestations, diagnosis and treatment of MELAS syndrome were discussed based on literature review.
Results: MELAS syndrome is a type of mitochondrial disease that mainly involves brain and muscle tissues and is associated with stroke-like episodes. It should be clinically differentiated from encephalitis and cerebral infarction. Early diagnosis and treatment can help prevent further development of the disease.
Conclusion: The clinical manifestations of MELAS syndrome are complex and diverse. The long-term prognosis is poor and the mortality rate is high. Therefore, early diagnosis and treatment are of important clinical significance for improving the prognosis and quality of life of the patients with MELAS syndrome.
关键词
线粒体脑肌病伴高乳酸血症和卒中样发作 /
卒中样发作 /
鉴别诊断
Key words
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode /
Stroke-like episode /
Differential diagnosis
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参考文献
[1] Pavlakis SG, Phillips PC, DiMauro S, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome[J]. Ann Neurol, 1984, 16(4):481-488.
[2] Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies[J]. Nature, 1990, 348(6302):651-653.
[3] Friedman JR, Nunnari J. Mitochondrial form and function[J]. Nature, 2014, 505(7483):335-343.
[4] El-Hattab AW, Emrick LT, Hsu JW, et al. Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation[J]. Mitochondrion, 2014, 18:63-69.
[5] Lott MT, Leipzig JN, Derbeneva O, et al. mtDNA variation and analysis using MITOMAP and MITOMASTER[J]. Curr Protoc Bioinformatics, 2013, 1(123):1.23.1-1.23.26.
[6] Weiduschat N, Kaufmann P, Mao X, et al. Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers[J]. Neurology, 2014, 82(9):798-805.
[7] Goodfellow JA, Dani K, Stewart W, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: an important cause of stroke in young people[J]. Postgrad Med J, 2012, 88(1040):326-334.
[8] 谢成娟, 汪 凯. 线粒体脑肌病伴高乳酸血症和脑卒中样发作综合征的临床、影像学及病理学特点[J]. 临床神经病学杂志, 2014, 27(1):5-7.
[9] Testai FD, Gorelick PB. Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes[J]. Arch Neurol, 2010, 67(1):19-24.
[10] Finsterer J, St?llberger C. Stroke in Myopathies[J]. Cerebrovasc Dis, 2010, 29(1):6-13.
[11] Kaufmann P, Engelstad K, Wei Y, et al. Protean phenotypic features of the A3243G mitochondrial DNA mutation[J]. Arch Neurol, 2009, 66(1):85-91.
[12] Lizuka T, Sakai F, Suzuki N, et al. Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome[J]. Neurology, 2002, 59(6):816-824.
[13] 李素英, 张保民, 王 英. MELAS综合征的影像学诊断与鉴别诊断[J]. 中华实用诊断与治疗杂志, 2010, 24(1):65-66.
[14] Aliabadi N, Jamalidoust M, Asaei S, et al. Diagnosing of herpes simplex virus infections in suspected patients using real-time PCR[J]. Jundishapur J Microbiol, 2015, 8(2):e16727.
[15] 王得新, 刘 磊. 自身免疫性脑炎现代概念与分类[J]. 中国实用内科杂志, 2012, 32(11):824-825.
[16] Graus F, Titulaer MJ, Balu R, et al. A clinical approach to diagnosis of autoimmune encephalitis[J]. Lancet Neurol, 2016, 15(4):391-404.
[17] Heine J, Prüss H, Bartsch T, et al. Imaging of autoimmune encephalitis—Relevance for clinical practice and hippocampal function[J]. Neuroscience, 2015, 309:68-83.
[18] Aurangzeb S, Vale T, Tofaris G, et al. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult[J]. Pract Neurol, 2014, 14(6):432-436.
[19] Dos Santos VM, Da Mata AM, Ribeiro KR, et al. Fahr’s Syndrome and Secondary Hypoparathyroidism[J]. Rom J Intern Med, 2016, 54(1):63-65.
[20] Sofou K, Steneryd K, Wiklund LM, et al. MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement[J]. Mitochondrion, 2013, 13(4):364-371.
[21] 吴世陶, 刘恒方, 刘 方, 等. 线粒体脑肌病伴高乳酸血症和卒中样发作综合征的影像学特征及动态演变[J]. 中风与神经疾病, 2016, 33(12):1084-1086.
基金
上海市卫生和计划生育委员会中医药科研基金资助项目（编号：2012L021A）；上海市中医药事业发展3年行动计划高级中西医结合人才培养项目（编号：ZY3-RCPY-4-2019）；上海市第3批优势专科中医脑病项目（编号：ZYSNXD-YL-YSZK004）
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