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一个贝都因家庭中的马里内斯科-舍格伦综合征。

Marinesco-Sjögren syndrome in a Bedouin family.

作者信息

Farah S, Sabry M A, Khuraibet A J, Anim J T, Quasrawi B, Al-Khatam S, Al-Busairi W, Hussein J M, Khan R A, Al-Awadi S A

机构信息

Department of Neurology, Ibn Sina Hospital, Hawalli, Kuwait.

出版信息

Acta Neurol Scand. 1997 Dec;96(6):387-91. doi: 10.1111/j.1600-0404.1997.tb00303.x.

Abstract

Marinesco-Sjögren syndrome is rarely reported in the Middle East. This is the 2nd report of Marinesco-Sjögren syndrome in an Arab family. The clinical features of 2 affected brothers are described. Electrophysiological studies of the 2 patients showed primarily myopathic changes, whereas sural nerve biopsy revealed segmental demyelination and axonal degeneration. The role of tissue biopsy and the relationship to different electrophysiological studies are discussed. Both patients were noticed to have abnormally short lateral 3 metatarsals, a feature not present in other healthy members of the family. We suggest that this feature should be considered part of the syndrome profile.

摘要

马里内斯科-舍格伦综合征在中东地区鲜有报道。本文是关于一个阿拉伯家庭中出现马里内斯科-舍格伦综合征的第二篇报道。文中描述了两名患病兄弟的临床特征。对这两名患者的电生理研究主要显示为肌病性改变,而腓肠神经活检显示节段性脱髓鞘和轴突变性。文中讨论了组织活检的作用以及与不同电生理研究的关系。两名患者均被发现第三跖骨外侧异常短小,该特征在该家庭的其他健康成员中并不存在。我们建议这一特征应被视为该综合征特征的一部分。

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