Dukas L, Vogt M
Medizinische Klinik, Kantonsspital Zug.
Praxis (Bern 1994). 1996 May 21;85(21):696-8.
Morbus Wilson is a rare autosomal recessive inborn error of metabolism which leads to an excessive deposition of copper many tissues. There are three types of presentation, an asymptomatic, a hepatic and a neurologic one. In this case report we present a 24-year-old man with mental retardation who showed changes in behaviour and slowness. Clinical and laboratory investigations confirmed the diagnosis of Morbus Wilson. We briefly review typical aspects of this rare disease.
威尔逊氏病是一种罕见的常染色体隐性遗传性代谢紊乱疾病，会导致许多组织中铜过度沉积。有三种表现类型，即无症状型、肝脏型和神经型。在本病例报告中，我们介绍了一名24岁智力发育迟缓的男性，他出现了行为改变和行动迟缓。临床和实验室检查确诊为威尔逊氏病。我们简要回顾了这种罕见疾病的典型特征。
