线粒体脑肌病临床与影像学动态变化特点分析

发布时间：2018-05-31 15:24

本文选题：线粒体脑肌病 + MELAS综合征　；参考：《中国全科医学》2017年15期

【摘要】：背景线粒体脑肌病影像学诊断存在一定困难,目前尚缺乏针对该病疾病进展中影像学动态变化特点的研究。目的探讨线粒体脑肌病,尤其是线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)综合征的临床特点与颅脑CT及MRI影像学动态变化特点。方法回顾性分析温州医科大学附属第一医院2010—2015年确诊的9例线粒体脑肌病患者共19次发作时的临床特点及颅脑影像学表现,动态观察病情演变过程中相应病灶弥散加权成像(DWI)及表观弥散系数(ADC)的变化等情况。结果 9例患者中5例确诊为MELAS综合征。9例患者以年轻男性(6例)为主,临床主要表现为痫性发作、脑卒中样发作、认知功能减退、头痛或头晕、听力或视力下降、明显肌肉萎缩。9例患者共计23个病灶累及大脑各脑叶,颅脑CT检查显示病灶部位呈低密度改变,MRI检查显示病灶部位T1低信号T2高信号。病变初期以血管源性水肿为主,脑回部位DWI高信号ADC低信号,邻近皮质下出现云絮状高信号改变并持续存在,脑回部位DWI信号随时间缓慢减低,而ADC随之升高;病程中部分组织坏死,出现邻近脑室扩大或脑沟增宽、蜂窝状液化等不可逆改变。4例CT检查显示双侧基底核区高密度影(铁沉积/钙化)。结论线粒体脑肌病临床表现复杂多样,以皮质受累为主,颅脑CT检查可发现铁沉积/钙化,而颅脑MRI检查中病灶部位DWI和ADC变化能够在一定程度上动态反映线粒体脑肌病的疾病演变特点。
[Abstract]:Background there are some difficulties in imaging diagnosis of mitochondrial encephalomyopathy. Objective to investigate the clinical features of mitochondrial encephalomyopathy, especially mitochondrial encephalomyopathy with hyperlactic acidemia and stroke like attack syndrome (Mel ASS), and to investigate the dynamic changes of CT and MRI imaging in patients with mitochondrial encephalomyopathy. Methods the clinical features and craniocerebral imaging findings of 9 patients with mitochondrial encephalomyopathy diagnosed in the first affiliated Hospital of Wenzhou Medical University from 2010 to 2015 were retrospectively analyzed. The changes of diffusion weighted imaging (DWI) and apparent diffusion coefficient (ADCC) were observed dynamically. Results among the 9 cases, 5 cases were diagnosed as MELAS syndrome. The main clinical manifestations were epileptic seizure, stroke like attack, cognitive impairment, headache or dizziness, hearing loss or visual acuity, and the main clinical manifestations were epileptic seizure, stroke like attack, headache or dizziness, hearing or vision loss. There were 23 lesions involved in all cerebral lobes in 9 patients with obvious muscular atrophy. Brain CT showed low density changes in the lesions. MRI showed T 1 low signal T 2 high signal intensity. At the beginning of the lesion, vasogenic edema was dominant, DWI in gyrus was high signal ADC low signal, cloud flocculant high signal was appeared in adjacent cortex, DWI signal in gyrus decreased slowly with time, and ADC increased. In the course of the disease, some of the tissues were necrotic, the adjacent ventricles were enlarged or the sulcus widened, and the honeycomb liquefaction and other irreversible changes were found in 4 cases. Ct examination showed high density (iron deposition / calcification) in the bilateral basal nuclei. Conclusion the clinical manifestations of mitochondrial encephalomyopathy are complex and diverse, mainly involving the cortex, and the iron deposit / calcification can be found by brain CT examination. The changes of DWI and ADC in brain MRI can reflect the disease evolution of mitochondrial encephalomyopathy to some extent.
【作者单位】：温州医科大学附属第一医院神经内科;温州医科大学附属第一医院影像科;
【分类号】：R445.2;R741

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