A Case Report of Misdiagnosis of Psychotic Symptoms Predominant Wilson’s Disease


Wilson’s disease is an autosomal recessive disease of abnormal copper metabolism. Psychosis is a rare manifestation of Wilson’s disease. Few cases of misdiagnosing Wilson’s disease as an etiology of psychosis were reported in the literature. We report a case of a 42-year-old patient, who was diagnosed with a schizoaffective disorder and treated with antipsychotics for 3 years with no significant improvement. On reevaluation, we the patient was diagnosed to have Wilson’s disease. The patient’s symptoms improved significantly with chelation therapy.

KeywordsMisdiagnosispsychosisWilson’s disease


Wilson’s disease first described by Kinnier Wilson as lenticular degeneration is a rare autosomal recessive disease of abnormal copper metabolism occurred due to mutation in ATP7B gene in chromosome 13.[] In a retrospective study done by the Bem et al., the predominant symptoms of Wilson’s disease at presentation were hepatic symptoms (38.9%) followed by the mixed symptoms (hepatic and neuropsychiatry symptoms in 30.6%) and neuropsychiatry symptoms (25%).[] Wilson’s disease presenting as the psychotic disorder is a rare phenomenon which often goes undetected and mismanaged with antipsychotic without chelating therapy.[] We report the case of Wilson’s disease with predominant psychiatric symptoms misdiagnosed as a schizoaffective disorder for 3 years and treated with antipsychotics alone without significant improvement.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s