Neuropsychiatric Manifestations of Wilson Disease: Diagnostic Dilemmas and Management Challenges

Abstract

ATP7B mutations cause Wilson disease (WD), a rare inherited recessive syndrome that affects copper excretion and causes toxic accumulation in the liver, brain, cornea, and other tissues. Hepatic involvement is commonly the first symptom, although neuropsychiatric symptoms such tremor, dystonia, parkinsonism, dysarthria, mood disorders, sadness, apathy, and irritability often dominate the clinical course. Classic eye indicators include Kayser–Fleischer rings and sunflower cataracts. Diagnosis requires low serum ceruloplasmin (<0.20 g/L), raised non-ceruloplasmin-bound copper, increased 24-hour urine copper, and neuroimaging characteristics such basal ganglia T2 hyperintensities and the “face of the giant panda” sign. Acute Wilsonian hepatitis can cause serious injury to the liver quickly, which can result in hepatic dysfunction and necessitate an immediate liver replacement. Due to poor prognosis, neurological and mental symptoms must be diagnosed early. Multidisciplinary examination and timely treatment improve WD survival and outcomes. This review evaluates Wilson disease mood symptoms, psychosis, behavioural abnormalities, and cognitive impairment treatment.