Abstract: The clinical characteristics, imaging examinations and muscle biopsies in 6 cases with mitochondrial encephalomyopathy were retrospectively analyzed. Main clinical symptoms included stroke-like episodes, epileptic seizures, eye muscle involvement, blurred vision or cortical blindness, psychiatric symptoms and hypophrenia. Most patients were accompanied by exercise intolerance and elevated level of serum lactic acid. Multiple cortical or subcortical lesions, which were not in a vascular distribution, were found on MRI scans in 5 cases. Ragged red fibers were found in all patients by using biceps biopsy. The clinical characteristics of mitochondrial encephalomyopathy are complicated and variable. It can be diagnosed in terms of increased level of serum lactic acid, MRI scan and biceps biopsy.

Key words: Mitochondrial encephalomyopathies, Lactic acid, Magnetic resonance imaging, Biopsy

摘要： 共6 例经临床与肌肉组织活检明确诊断的线粒体脑肌病患者，临床主要表现为卒中样发作、癫痫、眼肌受累、视物模糊或皮质盲、精神症状、智力减退等，可伴有运动不耐受；血清乳酸水平不同程度升高；MRI以多发性皮质和皮质下异常信号为主，且病灶未处于血管分布区。肱二头肌肌肉组织活检可见典型破碎红纤维。线粒体脑肌病临床表现复杂，血清乳酸水平升高、影像学改变、肌肉组织活检为确诊之重要依据。

关键词: 线粒体脑肌病, 乳酸, 磁共振成像, 活组织检查