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目的探讨成人线粒体脑肌病(ME)的临床与影像学特点。方法对6例成人ME患者的临床与影像学特点进行分析,观察其肌电图、脑电图、血乳酸检查、肌肉活检结果及脑CT、MRI特点。结果抽搐、运动不耐受、视听障碍、智能减退等为该病的主要临床表现,肌电图示神经源性损伤(4/5例),脑电图为广泛中、重度异常(3/3例),血乳酸水平升高(4/4例),肌肉活检可见不整红边纤维(RRF)(4/6例)。影像学检查可见幕上多发病灶,呈对称性,位于额颞顶枕叶及丘脑、基底节等处,伴脑室扩大和脑萎缩,CT呈低密度1例,MRI表现为长、等T1,长T2信号影,MR血管造影(MRA)无明显的大动脉狭窄或闭塞,不同程度脑萎缩4例。结论根据线粒体脑肌病的临床及影像学特点,结合肌肉活检可对该病做出早期诊断。
Objective To investigate the clinical and imaging features of adult mitochondrial encephalomyopathy (ME). Methods The clinical features and imaging features of 6 adult patients with ME were analyzed and their EMG, EEG, blood lactic acid, muscle biopsy and brain CT and MRI were observed. Results convulsions, motor intolerance, visual impairment, decreased intelligence, etc. as the main clinical manifestations of the disease, EMG-induced neurogenic injury (4/5 cases), EEG is a wide range of moderate to severe abnormalities (3/3 Cases), elevated blood lactate levels (4/4 cases), irregular red edge fibers (RRF) (4/6 cases). Imaging examination showed multiple lesions on the screen, symmetry, located in frontotemporal and occipital lobe and thalamus, basal ganglia and other places, with ventricular enlargement and brain atrophy, CT was low density in 1 case, MRI showed long, such as T1, long T2 signal shadow, MR angiography (MRA) no significant stenosis or occlusion of large artery, brain edema in varying degrees in 4 cases. Conclusion According to the clinical and imaging features of mitochondrial encephalomyopathy, combined with muscle biopsy can make an early diagnosis of the disease.