神经损伤与功能重建Issue(4)：300-303,4.DOI:10.3870/sjsscj.2015.04.007
线粒体脑肌病29例临床特点分析
Analysis on the Clinical Characteristics of Twenty-nine Patients with Mitochondrial Myopathy
摘要
Abstract
Objective:To analyze a variety of non-specific clinical features and laboratory examination results of mitochondrial myopathy (ME) patients , and to provide information for the early diagnosis of this disease. Methods:A retrospective study was performed to analyze the clinical manifestations of 29 patients with ME at our hospital from May 2008 to December 2013. A combination of relatively specific symptoms was explored and the signifi-cance of the results of the laboratory examinations [lactate levels in plasma and cerebrospinal fluid (CSF), EEG, EMG, MRI/MRS, muscle biopsies and genetic testing] on the diagnosis of different types of ME was analyzed. Results: ① The most common clinical manifestations in our patients included epilepsy (89.70% ), headache (75.90%), weakness (65.50%) and the others. ②Twenty-four of 29 patients (82.8%) showed high fasting blood lac-tate level or positive lactic exercise test. In the CSF examination, 12 of 22 patients (54.5%) showed elevated CSF protein and 8 of the 22 cases (36.4%) had elevated CSF lactate. ③All the patients were given brain MRI scan and 26 of 29 (89.7%) patients showed significant temporal lobe involvement. Additionally, there were 23 cases (79.3%) with occipital lobe involvement, 23 cases (79.3%) with parietal lobe involvement, 6 cases (20.7%) with frontal lobe involvement and 2 cases (6.9%) with cerebellar involvement. The brain magnetic resonance spectroscopy (MRS) examination was completed in 16 cases, and all of their lesions were apparent in lactate peak and NAA peak falling.④Twenty-two patients underwent muscle biopsy. There were 14 cases (63.6%) with positive findings. Nine cases underwent genetic testing, and five cases (55.6%) were found mitochondrial DNA 3243 A>G point mutation, and one cases (11.1%) was found with mitochondria DNA8344 A>G point mutation. Conclusion: ME had special radio-logical and pathological manifestations, but had the multiple combinations of clinical features with many non-spe-cific symptoms. ME is often easily misdiagnosed. Muscle biopsy and genetic testing can provide an important basis for the definite diagnosis.关键词
线粒体脑肌病/磁共振成像/肌肉活检/基因检测Key words
mitochondrial myopathy/magnetic resonance imaging/muscle biopsy/genetic testing分类
医药卫生引用本文复制引用
邢海辉,余年,徐辉,姚燕,林兴建..线粒体脑肌病29例临床特点分析[J].神经损伤与功能重建,2015,(4):300-303,4.基金项目
南京市医学科技发展资金暨南京市卫生青年人才培养工程（No.QRX11119）南京医科大学科技发展基金面上项目 （）
