Crumley F E
J Am Acad Child Adolesc Psychiatry. 1990 May;29(3):470-1. doi: 10.1097/00004583-199005000-00022.
Diagnosis of Wilson's Disease in the early stages may be elusive in patients presenting without neurological symptoms. A case history is presented which demonstrates the pitfalls in making the diagnosis. Presenting psychiatric symptoms were nonspecific. Ceruloplasmin level was initially elevated to normal range. Liver biopsy showed early nonspecific cirrhosis; staining for copper did not show the dramatic effects expected with Wilson's Disease. Neurological examination, including NMR, was within normal limits. Kayser-Fleischer rings are no longer considered pathognomic. Urinary copper excretion helped to establish the diagnosis.
对于没有神经症状的患者，威尔逊病的早期诊断可能很难实现。本文介绍了一个病例史，该病例展示了诊断过程中的陷阱。呈现出的精神症状不具有特异性。最初，血浆铜蓝蛋白水平升高至正常范围。肝脏活检显示早期非特异性肝硬化；铜染色未显示出威尔逊病预期的显著效果。包括核磁共振成像（NMR）在内的神经检查均在正常范围内。凯泽-弗莱舍尔环不再被认为具有诊断特异性。尿铜排泄量有助于确诊。
