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线粒体脑肌病伴乳酸血症和卒中样发作综合征。文献综述:耳科医生的作用。

The MELAS syndrome. Review of the literature: the role of the otologist.

作者信息

Karkos P D, Waldron M, Johnson I J

机构信息

Department of Otolaryngology, The Freeman Hospital, Newcastle upon Tyne, UK.

出版信息

Clin Otolaryngol Allied Sci. 2004 Feb;29(1):1-4. doi: 10.1111/j.1365-2273.2004.00769.x.

Abstract

The mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare congenital disorder of mitochondrial DNA (mt-DNA). Patients with this syndrome may present to the otolaryngologist with sensorineural hearing loss (SNHL), which is genetic in origin. A high index of suspicion is required because this hearing loss is part of a syndrome for which early diagnosis and intervention is required.

摘要

线粒体肌病、脑病、乳酸酸中毒和卒中样发作(MELAS)综合征是一种罕见的线粒体DNA(mt-DNA)先天性疾病。患有这种综合征的患者可能因遗传性感音神经性听力损失(SNHL)而就诊于耳鼻喉科医生。由于这种听力损失是一种需要早期诊断和干预的综合征的一部分,因此需要高度怀疑。

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