威尔逊病的一种不寻常的表现,表现为烧脚综合征

J. Rollnik, I. Rost, C. Marschall, P. Wetzel
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引用次数: 0

摘要

背景:肝豆状核变性很少与周围神经病变相关。病例报告:我们报告一个50岁的男性有一个不寻常的威尔逊病的表现。病人表现为烧脚综合征。神经传导研究显示轻度轴突和髓鞘损伤。基因检测发现ATP7B基因纯合点突变(c.3207C> a)。结论:医生应该意识到患有Wilson病的患者可能表现出广泛的症状,包括多神经病变的迹象。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
An unusual manifestation of Wilson disease presenting with burning feet syndrome
Background: Wilson disease is rarely associated with peripheral neuropathy. Case Report: We report on a 50 y old male with an unusual manifestation of Wilson disease. The patient presented with burning feet syndrome. Nerve conduction studies revealed a mild axonal and myelin damage. In genetic testing, a homozygous point mutation (c.3207C>A) on the ATP7B gene was found. Conclusions: Physicians should be aware that patients suffering from Wilson disease may present with a broad spectre of symptoms, including signs of polyneuropathy.
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