Catatonic Disorder due to Wilson’s disease - A rare presentation

Normal dietary consumption and absorption of copper exceedthe metabolic need, and homeostasis of this element is maintainedexclusively by the biliary excretion of copper. Wilson’s disease (WD) is an autosomal recessively inherited disorder in which defective biliary excretionof copper occursdue to mutations of the ATP7B gene on chromosome 13 [1,2], which encodes a copper-transportingP-type ATPase (ATP7B), hence leading to copper accumulation, particularly in liver and brain[3,4]. Incidence may be as high as 1 in 30,000 andclinical presentation can vary widely[5]. The most common presentations are with liver disease or neuropsychiatric disturbances. Asymptomatic patients are most oftendetected by family screening. Lifetime prevalence of psychiatric disorders in patients with WD is estimated to range between 30% and 100%[3,6,7]. The psychiatric manifestations of WD can be categorized into: personality changes, affective disorders, psychosis, cognitive impairment, and others. Personality change, affective disorders including depression, and cognitive impairment are common, and schizophrenia-like psychoses are rare[6,7]. The lifetime prevalence of persistent personality change ranges between 46-71%[8,9]. Schizophreniform disorders, catatonia, and hallucinations are no more common in WD than in the general population[3,7] but psychosis and catatonia occurred somewhat more commonly (8% each) in neurological WD[9]. In children with Wilson’s disease, declining schoolperformance, impulsiveness, labile mood, sexual exhibitionism, and inappropriate behaviour are observed[10]. The Wilson disease (WD) is a relatively rare autosomal recessive disorder caused by the mutation of ATP7B gene, resulting in impaired transportation of copper in the body which is then deposited in various organs such as liver, brain and kidney. Catatonia at first presentation in WD has rarely been reported. Here we report a case of a 14 year old boy who presented with catatonia among other neuropsychiatric features and who was later diagnosed with Wilson's disease. He responded well to treatment with Copper chelators, olanzapine and lorazepam. Though uncommon, a diagnosis of Wilson's disease should be considered in the evaluation of adolescents and young adults presenting with psychiatric manifestations &/or neurological features.