Neuropsychiatria i Neuropsychologia

Abstract

1-2/2025 vol. 20
Case report

Chasing the diagnosis – diagnostic challenges in a patient with psychiatric disorders as the first symptoms of Wilson’s disease

  1. Oddział Psychiatryczny Męski, Wojewódzki Szpital Zespolony im. Ludwika Rydygiera w Toruniu
Neuropsychiatria i Neuropsychologia 2025; 20, 1–2: 40–45
Online publish date: 2025/04/24
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This report presents a case of a 34-year-old patient manifesting psychiatric symptoms, including suicidal thoughts, disorganized behavior, anhedonia, and avolition, which began six months prior to hospitalization. An initial diagnosis of hebephrenic schizophrenia/schizoaffective disorder was made. Due to an atypical clinical presentation, additional laboratory and imaging tests, as well as specialist consultations, were conducted, leading to a diagnosis of Wilson’s disease. Genetic testing was performed to confirm the diagnosis. Treatment with anti-copper agents, antipsychotics, and a tailored diet resulted in the patient’s improvement. This case highlights diagnostic challenges and reviews the newest available American guidelines for diagnosing this condition.
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