DOI: 10.36347/sasjm.2024.v10i02.002

Pages: 93-95

Wilson's disease is a rare autosomal recessive disorder resulting from a loss of function of adenosine triphosphatase secondary to a mutation. This leads to a decrease or absence of copper transport in the bile and its accumulation in organs, particularly the brain. It can manifest initially as hepatic, neurological, or psychiatric disorders in at least 90% of patients. Cases appearing beyond the age of 50 are rare. In some patients, central nervous system involvement can be predominant, presenting as behavioral disorders, depression, or psychosis indistinguishable from schizophrenia or manic-depressive psychosis. Diagnostic criteria include low ceruloplasmin, Kayser-Fleischer ring, low serum copper, and high urinary copper. Genetic testing can be done through familial linkage analysis or direct genotypic diagnosis. We present an original clinical case where the onset of Wilson's disease presents as a late-onset psychotic episode. Although rare, Wilson's disease is crucial in psychiatry, as psychiatric manifestations may precede somatic symptoms, aiding in early diagnosis. Early diagnosis is vital, as the disease is fatal without specific treatment.