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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。
Objective: To improve the clinical understanding of mitochondrial myopathy (encephalopathy, lactic acidosis, and stroke-like episode, MELAS) syndrome. Methods: The clinical manifestations, diagnosis and treatment of one case of MELAS syndrome were reported. The pathogenesis, clinical manifestations, diagnosis and treatment of MELAS syndrome were discussed in combination with the literature review. RESULTS: MELAS syndrome is a type of mitochondrial disease involving mainly brain and muscle tissue with stroke-like episodes and should be clinically identified with encephalitis and cerebral infarction. Early diagnosis and treatment can help stop the further development of the disease. CONCLUSIONS: 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 have important clinical significance for improving the prognosis and quality of life of patients.