{"title":"An unusual manifestation of Wilson disease presenting with burning feet syndrome","authors":"J. Rollnik, I. Rost, C. Marschall, P. Wetzel","doi":"10.5580/3e7","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":232166,"journal":{"name":"The Internet Journal of Neurology","volume":"10 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2009-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Internet Journal of Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5580/3e7","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
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.