Abstract
Wilson disease is a rare copper metabolism disorder that generally occurs in individuals between 5 and 35 years of age. Common clinical manifestations are hepatic, neurological, and psychiatric symptoms. Roughly, 4% of all cases occur in patients over 40 years of age and, among these patients, the presenting symptoms are generally neuropsychiatric, which often leads to misdiagnosis as a primary psychiatric disorder and a delay in correct diagnosis. This report presents the case of a 49-year-old man with no formal psychiatric history who presented with a new onset of mania. We outline the distinctive characteristics that appeared inconsistent with a primary psychiatric disorder and pointed toward secondary mania. Despite low serum ceruloplasmin, the absence of brain abnormalities more typical of Wilson disease on magnetic resonance imaging led a neurology consultant to advise that the diagnosis was likely primarily psychiatric. Due to atypical components of the patient's presentation, such as his late age of onset for bipolar disorder and acute cognitive decline, the psychiatric team advocated for further diagnostic workup. The subsequent evaluation confirmed Wilson disease based on specific ophthalmological and hepatic abnormalities and further copper studies. In addition, once diagnosed, the management of Wilson disease involves distinct clinical considerations given patients' presumed vulnerability to neurological side effects. This case illustrates the role psychiatric providers play in advocating for diagnostic workup in patients with atypical presentations of primary psychiatric disorders and the distinct diagnostic and treatment considerations associated with Wilson disease.
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