@Article{Maternia2025,
journal="Neuropsychiatria i Neuropsychologia/Neuropsychiatry and Neuropsychology",
issn="1896-6764",
volume="20",
number="1",
year="2025",
title="Chasing the diagnosis – diagnostic challenges in a patient with psychiatric disorders as the first symptoms of Wilson’s disease",
abstract="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.",
author="Maternia, Mateusz
and Malczewska, Magdalena",
pages="40--45",
doi="10.5114/nan.2025.149950",
url="http://dx.doi.org/10.5114/nan.2025.149950"
}