以乳酸血症和脑卒中样发作为主要临床表现的线粒体脑肌病

目的：报告线粒体脑肌病伴高乳酸血症和腩卒中样发作（MELAS）病1例，进行相关文献复习并探讨其临床表现、影像学和组织病理学特征。方法：对线粒体脑肌病MELAS患者的临床表现、影像学、组织病理学、免疫组化结果、辅助检查等情况进行分析，同时参考国内外文献对该病的报道。结果：MELAS的主要临床表现为发作性头痛和呕吐、全身性癫痫、精神障碍、脑卒中样发作、血乳酸增高；肌电图示神经源性改变；脑MRI示病灶多位于顶、枕、颞脑回处；肌肉活检见破碎样红纤维和异常线粒体，符合线粒体脑肌病MELAS的特征。结论：线粒体脑肌病MELAS的诊断主要根据临床表现和影像学特点，肌肉活检可确诊。

Lactic Acidosis and Stroke-like Episodes in a Patient with Mitochondrial Encephalomyopathy Case Report

To investigate the clinical manifestations,neuropathology and imaging in the patients with mitochondrial encephalomyopathies lactic acidosis and stroke-like episodes(MELAS) syndromes type of mitochondrial encephalomyopathy for the diagnostic method of the disease.Methods:Systemic study was performed on the clinical features,imaging of one MELAS patient.Muscle biopsy was examined.Results: The main clinical features were characterized by recurrent headache and vomit,focal or generalized seizures, dementia,str...