Pitfalls of Diagnosis in the Early Stages of Wilson's Disease

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.