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[线粒体脑肌病。病例报告]

[Mitochondrial encephalomyoneuropathy. Case report].

作者信息

Pavlović S, Kostić V, Cvetković D, Trikić R, Dragutinović G

出版信息

Srp Arh Celok Lek. 1995 Jan-Feb;123(1-2):42-5.

PMID:17974476
Abstract

Mitochondrial myopathies and encephalomyopathies constitute a group of degenerative disorders characterized by a striking degree of clinical, biochemical and genetic heterogenity. We present a case of a 42-year old woman with clinical, electrophysiological and laboratory features of a mitochondrial encephalomyoneuropathy. A muscle biopsy specimen showed ragged-red fibres. Signs of demyelination and remyelination of a few fibers were observed in a sural nerve biopsy specimen. MR imaging revealed symmetrical multifocal white matter lesions predominantly in the parieto-occipital region. We stress the benefitial therapeutic effect of CoQ since it resulted in marked alleviation of some signs of the disease.

摘要

线粒体肌病和脑肌病是一组退行性疾病,其特点是在临床、生化和遗传方面具有显著的异质性。我们报告一例42岁女性患者,具有线粒体脑肌神经病的临床、电生理和实验室特征。肌肉活检标本显示破碎红纤维。腓肠神经活检标本中观察到少数纤维有脱髓鞘和再髓鞘化迹象。磁共振成像显示主要位于顶枕区的对称性多灶性白质病变。我们强调辅酶Q的有益治疗效果,因为它使该疾病的一些症状得到明显缓解。

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