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目的:总结线粒体脑肌病伴高乳酸血症及卒中样发作综合征的CT与MRI表现特征及与其他疾病的鉴别。方法:回顾性分析7例经肌肉病理或基因检测诊断为线粒体脑肌病伴高乳酸血症及卒中样发作综合征患者的临床及CT与MRI资料。结果:7例MRI均显示多脑叶受累,病变不按血管支配区分布,其中枕叶受累6例,顶叶受累4例,颞叶受累4例,额叶受累1例;表现为大脑皮质及皮质下多发大片状异常信号,T1WI呈等信号或低信号,T2WI及FLAIR序列呈高信号;7例中伴发基底节灰质核团受累4例,脑干受累2例、小脑萎缩1例;增强扫描少有强化。3例MRA检查均未见大血管狭窄或闭塞,1例可见大脑中动脉远端分支增多;CT扫描病变呈低密度,伴基底节区对称性钙化3例。结论:线粒体脑肌病伴高乳酸血症及卒中样发作综合征影像学表现具有一定特征性,根据临床病史及影像学表现可诊断该病的并与其他疾病鉴别,最终诊断需结合肌肉活检或DNA基因检测。
OBJECTIVE: To summarize the CT and MRI features of mitochondrial encephalomyopathy with hyperlactatemia and stroke-like episode syndromes and to identify them with other diseases. Methods: Clinical and CT and MRI data of 7 patients diagnosed as mitochondrial encephalomyopathy with hyperlactic acidosis and stroke-like episode syndrome by muscle pathology or gene test were retrospectively analyzed. Results: Seven cases of MRI showed multiple lobes involvement. The lesions were not located according to the vascular dominance. There were 6 cases of occipital lobe involvement, 4 cases of parietal lobe involvement, 4 cases of temporal lobe involvement and 1 case of frontal lobe involvement. The findings were cerebral cortex and There were multiple large abnormal signals in the subcortical area. T1WI showed equal signal or low signal, T2WI and FLAIR sequences showed high signal. In 7 cases, there were 4 cases with basal ganglia gray matter involvement, 2 cases with brainstem involvement and 1 case with cerebellar atrophy. Enhanced scanning rarely enhanced. No vascular stenosis or occlusion was observed in 3 cases of MRA. One case showed that the distal branches of the middle cerebral artery increased. CT scan showed low density with symmetrical calcification of basal ganglia in 3 cases. Conclusion: The imaging features of mitochondrial encephalomyopathy with hyperlipidemia and stroke-like seizure syndrome have some characteristics. According to the clinical history and imaging findings, the disease can be diagnosed and identified with other diseases. The final diagnosis should be combined with muscle biopsy or DNA gene testing.