Psychiatric Symptoms sans Hepato-Neurological symptoms in Wilson Disease – A case Report

INTRODUCTION: Wilson’s disease (WD) is an autosomal recessive disorder involving ATP7B gene. Varied presentations of WD have been reported in earlier studies. Forty to Fifty percent of patients present with neurological symptoms and almost all patients develop psychiatric manifestations over the course of disease (Tomasz Litwin et al, 2018) or they may present with both psychiatric and neurological symptoms together (Subhashree Page et al, 2020). Rarely psychiatric manifestations may precede Hepatic and Neurological signs (MK Sahoo et al, 2010 and Walshe JM et al, 1992). THE CASE: An 18-year-old male without any past psychiatric history presented with social withdrawal, apathy, reduced attention and concentration, refusal to speak, reduced domestic activities, lack of interest, refusal to work, disturbed sleep and appetite for last six months without any stressor. There was gross cognitive decline (MMSE score was 11/30). On neurological examination no abnormality was found. Routine Blood investigations revealed hyperbilirubinemia with elevated liver enzymes. CE MRI Brain revealed metal deposits in B/L Basal Ganglia. Urinary Copper level was increased (88.1 mcg/24 hours) and Serum Ceruloplasmin level was decreased (15 mg/dl). Slit Lamp examination revealed B/L KF Rings. DISCUSSION: This is a very rare case of Wilson’s disease where psychiatric manifestations preceded clinical hepatic & neurological manifestations and underscores the need for screening for WD in young patients with psychiatric symptoms with inappropriate cognitive decline