MELAS型线粒体脑肌病的临床特点及诊断分析
胡浩
摘要(Abstract)：
目的探讨MELAS型线粒体脑肌病的临床特点,以及容易与其混淆的几种疾病的鉴别诊断。方法观察总结我院近年收治的10例MELAS型线粒体脑肌病患者的临床表现。结果 MELAS型线粒体脑肌病首发症状多为抽搐、间断性头痛和呕吐,或肌无力、运动不耐受,伴有轻度肌肉萎缩或卒中样发作、轻偏瘫、偏盲、失语等,症状反复发作,逐渐出现智能下降甚至痴呆。结论 MELAS型线粒体脑肌病最终明确诊断有赖于肌肉活检或基因测序,但只要能熟知该病的临床特点还是能早期做出正确的判断。
关键词(KeyWords)： MELAS型线粒体脑肌病;临床特点;鉴别诊断
基金项目(Foundation):
作者(Author): 胡浩
参考文献(References)：
- [1]吕海东,李建章,张三军,等.MELAS型线粒体脑肌病的临床、影像学和肌肉病理分析[J].中国实用神经疾病杂志,2009,12(3):1-3.
- [2]Hirano M,Ricci E,Koenigsberger MR,et al.MELAS:an orig-inal and clinical criteria for diagnosisi[J].Neuromusc Disord,1992,2:125-135.
- [3]Abe K,Yoshimura H,Tanaka H,et al.Comparison of conven-tional and diffusion2-weighted MRI and proton MR spectrosco-py in patients with mitochondrial encephalomyopathy,lactic ac-idosis,and stroke2-like events[J].Neuroradiology,2004,46(2):113-117.
- [4]郑天衡,李盛棣.线粒体脑肌病研究进展[J].华夏医学,2005,18:290-292.
- [5]Plewnia K,Dotti MT,Malandrini A,et al.A rare association of myasthenia gravis and mitochondrialmyopathy:a clinical bio-chemical and morphologic study of one case[J].J Submicrosc Cytol Pathol,1997,29:335.
- [6]Appenzeller S,Faria AV,Zanardi VA,et al.Vascular involve-ment of the central nervous system and systemic diseases:eti-ologies and MRI findings[J].Rheumatol Int,2008,28:1229-1 237.
- [7]张蔚,张东友,罗述祥,等.线粒体脑肌病的影像学诊断与鉴别诊断:附2例报告并文献复习[J].中国CT和MRI杂志,2006,4:36-37.
- [8]Greenan TJ,Grossman RI,Goldberg HI.Cerebral vasculitis:MR imaging and angiographic correlation[J].Radiology,1992,182:65-72.