摘要
患者 男性,31岁。间断性抽搐10余年,因头部外伤入院治疗.经脑组织、肌肉活检以及基因检测明确诊断为线粒体腩肌病伴高乳酸血症和卒中样发作(mitochondrial encephalomyopathy with lactic acidosis and stroke—like episodes,MELAS).
出处
《中国现代神经疾病杂志》
CAS
2007年第6期555-555,共1页
Chinese Journal of Contemporary Neurology and Neurosurgery
同被引文献28
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1郭炳伦,程敬亮,李桂英,杨运俊,高鹏,王超凡,黄文启.儿童线粒体脑肌病的脑部MRI表现与诊断[J].中华放射学杂志,2004,38(6):574-577. 被引量:5
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2邢海芳,戴建平,高培毅,李少武,任海涛,朱明旺,王清河.成人线粒体脑肌病的临床与影像学表现特征分析[J].中华放射学杂志,2005,39(6):630-633. 被引量:24
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3Jameson E,Morris A.Mitochondrial disease:a review.Paediatr Child Health,2011,21:80-83.
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4Ito H,Mori K,Kagami S.Neuroimaging of stroke-like episodes in MELAS.Brain Dev,2011,33:283-288.
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5Marotta R,Reardon K.McKelvie PA,et al.Association of the MELAS m.3243A》G mutation with myositis and the superiority of urine over muscle,blood and hair for mutation detection.J Clin Neurosci,2009,16:1223-1225.
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6Kerr DS.Treatment of mitochondrial electron transport chain disorders:a review of clinical trials over the past decade.Mol Genet Metab,2010,99:246-255.
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7Coman D,Yaplito-Lee J,Boneh A.New indications and controversies in arginine therapy.Clin Nutr,2008,27:489-496.
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8DiMauro S, Schon EA. Mitochondrial disorders in the nervoussystem. Annu Rev Neurosci, 2008, 31:91-123.
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9Scheffer RC, Smout AJ. Tachyduodenia in mitochondrialneurogaatrointestinal encephalomyopathy. NeurogastroenterolMotil, 2011,23:408-410.
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10Honzlk T, Tesarovd M, Mayr JA, Hanslkov6 H, Jesina P,Bodamer 0, Koch J, Magner M, Freisinger P, Huemer M,Kostkovd 0,van Coster R, Kmoch S, Houst6k J, Sperl W,Zeman J. Mitochondria] encephalocardio - myopathy with earlyneonatal onset due to TMEM70 mutation. Arch Dis Child,2010,95:296-301.
引证文献3
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1王洋,郭燕军,赵伟秦,张拥波.伴消化系统症状的成年型线粒体脑肌病伴乳酸血症和卒中样发作一例[J].中国现代神经疾病杂志,2012,12(1):90-92.
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2徐玉乔,叶菁,贾宏阁,王映梅,李青.线粒体脑病:一例报告并文献复习[J].中国现代神经疾病杂志,2013,13(6):519-524. 被引量:2
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3王嫚,沈中原,阚宏,张小艳,李飞.探讨多模态MRI检查对成人MELAS型线粒体脑肌病的诊断价值[J].中国CT和MRI杂志,2024,22(2):22-24.
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1杜波,程向东,等.系统性红斑狼疮伴发精神障碍误诊1例[J].河北精神卫生,1996,9(3):197-197.
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2裘五四.MELAS综合征1例[J].杭州医学高等专科学校学报,2004,25(1):33-34. 被引量:1
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3王菊莉,张成,曲华.视频脑电监测非癫痫性发作1例报告[J].中国社区医师,2008,24(4):36-36.
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4商瑞芹,李宗一.MELAS综合征1例[J].临床荟萃,2005,20(7):407-408. 被引量:2
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5马艳艳.儿童结节性硬化症一例报告[J].青海医药杂志,2008,38(7):83-83.
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6王心慧,韩艺华,陈嘉峰.MELAS综合征1例诊治经过并文献复习[J].中风与神经疾病杂志,2013,30(6):560-562. 被引量:2
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7袁俊亮,王双坤,郭晓娟,顾华,丁玲玲,胡文立.线粒体脑肌病伴乳酸血症和卒中样发作的磁共振波谱分析1例报告[J].中风与神经疾病杂志,2017,34(1):73-75.
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8刘美洁,赵丽芬,陈晓虹.口服避孕药致脑静脉窦血栓形成2例报道[J].卒中与神经疾病,2009,16(1):55-56.
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9王佳,孟喜君,谢万福,徐高峰.Sturge-Weber综合征1例[J].陕西医学杂志,2013,42(10).
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10米中波,王瑞文.表现为慢性脑内血肿的脑血管畸形1例报告[J].河北医药,2009,31(11):1407-1407.