成人线粒体脑肌病的临床与影像学表现特征分析

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。

Clinical and imaging manifestations of adult mitochondrial encephalomyopathy

Objective To investigate clinical manifestations and neuroimaging in the adult patients with mitochondrial encephalomyopathy (ME). Methods Systematic study was performed on the clinical features of six adult patients with ME with observations on electromyogram(EMG), electroencephalogram(EEG), the blood lactic acid level,muscle biopsies results and neuroimaging features of CT and MRI. Results The main clinical features were characterized by seizures, intolerance to exercise, audio-visual dysfunction, mental retardation, and so forth. EMG showed neurogenic damages(4/5 cases); EEG showed extensive mild to severe abnormal activities(3/3 cases)and lactic acidosis was also observed(4/4 cases). Neuroimaging findings included symmetric supratentorial multifoci lesions, located in frontal, temporal, parietal, and occipital lobes, thalami and basal ganglia with widening of ventricles and cerebral atrophy; the neuroimaging findings also included hyperintensity on T_2-weighted images and hypointensity/isointensity on T_1-weighted images; No stenosis and occlusion of main artery was displayed by magnetic resonance angiography(MRA). Muscle biopsies showed red ragged fiber (RRF)(4/6 cases). Conclusions Based on clinical features and neuroimaging, diagnosis of ME in early stage may be made in combination with muscle biopsy.