{"title":"威尔逊病的一种不寻常的表现,表现为烧脚综合征","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":"{\"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}","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}
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.