线粒体脑肌病:六例报告并文献复习  

Mitochondrial encephalomyopathy: six cases report and review of literature

作　　者：郭媛[1] 庹军[2] 吴波[1] 

机构地区：[1]四川大学华西医院神经内科,成都610041 [2]四川省成都市大邑县人民医院神经内科,611330

出　　处：《中国现代神经疾病杂志》2014年第7期621-624,共4页Chinese Journal of Contemporary Neurology and Neurosurgery

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、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。The clinical characteristics,imaging examinations and muscle biopsies in 6 cases with mitochondrial encephalomyopathy were retrospectively analyzed.Main clinical symptoms included strokelike 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.

关 键 词：线粒体脑肌病 乳酸 磁共振成像 活组织检查 

分 类 号：R746[医药卫生—神经病学与精神病学]