线粒体脑肌病的临床特征及MRI影像诊断分析

目的研究线粒体脑肌病(ME)的临床特征和MRI影像诊断分析。方法选取我院2011年2月-2015年3月神经内科收治确诊的18例ME患者,通过脑电图、肌电图、血液生化检测和影像观察等手段回顾性分析ME患者的临床特征,并进一步探讨MRI的影像特征及诊断价值。结果该18例ME患者脑电图检测出现16例异常,5例轻度,7例中度,4例重度;肌电图观有15例出现肌源性损伤和(或)神经源性损伤;血液生化检测显示14例LA异常较高,部分患者伴有CPK、LDH异常升高表达;肌活检显示12例出现RRF和线粒体异常增多或结构异常。MRI影像显示16例信号呈T1WI低信号、T2WI高信号表达;16例病变部位主要位于大脑皮质和深部脑灰质部,仅少数患者脑干和白质部位可见受累;有15例显示有脑萎缩(大小脑)症状。结论 ME临床症状主要为癫痫、智力障碍和肢体运动受限等,临床常规检测手段中多表现为脑电图异常,肌电图肌源性和(或)神经源性损伤,肌活检RRF核线粒体增多或结构异常、血液生化检测LA异常较高,部分患者CPK、LDH异常升高表达等临床特征;MRI影像具有一定的信号强弱表达特征,且对显示病变部位和脑萎缩等效果较好,临床中可结合ME的MRI影像结果和临床特征进行有效诊断。

Clinical Features and MRI Diagnosis of Mitochondrial Encephalomyopathies

Objective To study the clinical features and MRI diagnosis of mitochondrial encephalomyopathies (ME).Methods A total of 18 cases of ME patients admitted to our hospital during February 2011 to March 2015 were enrolled in the study. The clinical features of ME patients were retrospectively analyzed by electroencephalogram (EEG), electromyography (EMG), blood biochemical detection and imaging observation. The MRI findings and diagnosis value were explored.Results Among 18 cases of ME patients, there were 16 cases with abnormal EEG detected, the disease was mild in 5 cases, moderate in 7 cases, and severe in 4 cases. EMG showed 15 cases of myogenic injury and (or) neurogenic injury. Blood biochemical detection showed 14 cases of abnormally high LA, some patients with abnormally increased expression of CPK and LDH. Muscle biopsy showed abnormally increased RRF and mitochondria or structural abnormalities in 12 cases. MRI imaging showed low signal on T1WI and high signal on T2WI in 16 cases. 16 cases of lesions were mainly located in cerebral cortex and deep gray matter, there was involvement of white matter and brainstem in only a minority of patients. 15 cases showed symptoms of brain atrophy.Conclusion The main clinical symptoms of ME include epilepsy, mental disorder and limb movement restriction. In terms of routine clinical detection means, EEG shows abnormalities, EMG shows myogenic and (or) neurogenic injury, muscle biopsy shows increased RRF nuclear mitochondria or structural abnormalities, blood biochemical detection shows abnormally high LA, abnormally high expression of CPK and LDH in some patients. MRI images show certain signal intensity characteristics. It can well display the location of lesions and brain atrophy. In clinical practice, MRI images of ME can be combined with clinical features for effective diagnosis.