摘要
目的分析线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)的临床特征,为早期诊断和及时治疗提供依据。方法对6例确诊为MELAS患者的临床表现,影像学、病理及遗传学特征进行回顾性分析。结果肌无力、卒中样发作、抽搐、视物模糊、血乳酸增高是该组患者的主要临床表现。6例患者CT或MRI检查显示与血管分布不一致的病灶,肌肉活检组织的电镜观察发现线粒体增多、形态不规则,病理均见破碎红纤维(RRF)。2例基因检测发现A3243G点突变,典型病例患者磁共振波谱(MRS)可见升高和倒置的乳酸峰。结论 MELAS临床表现多样,确诊有赖于肌肉活检或基因检测,影像学检查(尤其是MRS)对于MELAS的早期诊断和鉴别诊断有一定的价值。
Objective To examine the clinical characteristics of mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episodes（MELAS） in an attempt to facilitate early diagnosis and treatment. Methods Data of clinical manifesta- tions,imaging,pathology and genetics of 6 cases of MELAS were retrospectively analyzed. Results The most common clinical manifestations of MELAS in the 6 patients were limb weakness, stroke-like episodes, seizure, visual anomaly and lactic acido- sis. CT or MRI showed that the lesions in the 6 patients were not distributed in accordance with cerebral vessels. The muscle bi- opsy showed increased mitochondria with irregular appearance and ragged red fibers（RRF）. Gene testing on 2 patients showed mtDNA A3243G mutation. The typical MRS showed increased and inverted lactate peak. Conclusion MELAS is characterized by multiple and complex clinical manifestations and the confirmative diagnosis depends on the results of muscle biopsy and gene testing. Imaging examination（especial MRS） may facilitate early diagnosis of MELAS and differential diagnosis.
出处
《华中科技大学学报（医学版）》
CAS
CSCD
北大核心
2013年第2期207-211,共5页
Acta Medicinae Universitatis Scientiae et Technologiae Huazhong
关键词
线粒体脑肌病伴高乳酸血症和卒中样发作
破碎红纤维
磁共振波谱成像
mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes （MELAS）
ragged red fibers （RRF）
magnetic resonance spectroscopy（MRS）
