Delayed Diagnosis of Wilson Disease Presenting as Isolated Psychiatric Symptoms: A Review of Published Cases

Abstract

Background: Wilson disease is a treatable disorder of copper transport in which psychiatric symptoms may be the only
presenting feature, with no hepatic or neurological sign alongside them. Objective: To describe the scale of diagnostic delay in psychiatric presentations and the documented failure modes of each test on the diagnostic pathway. Methods: Narrative review of published cohort studies, systematic reviews and individual case reports. Findings: In 268 adults, mean time from first symptom to diagnosis was 65 months for psychiatric presentations, 26.8 months for neurological and 18.3 months for hepatic. Caeruloplasmin below 0.20 g/L had a positive predictive value of 48.3%, and the Kayser-Fleischer ring was present in 27% of 67 patients. Testing typically followed a motor sign, often unmasked by an antipsychotic. Conclusions: The published record supports early copper studies in atypical or drug-intolerant psychiatric illness; it does not establish how often psychiatric symptoms are the sole presentation.