2080 – A Neuropsychiatric Presentation Of Wilson's Disease - Case Report

Abstract

Introduction

Wilson's disease (hepatolenticular degeneration), is an autosomal recessive hereditary disease of human copper metabolism, being characterised by excessive accumulation of copper in the body particularly the brain, liver, kidney and cornea. The diagnosis of Wilson's disease is easily overlooked. About half the people with Wilson's disease (40%), have neurological or liver symptoms. Psychiatric symptoms due to Wilson's disease are present in 15% of patients.

Aim

To present the case of an adolescent admitted to Clinic of Psychiatry, University Clinical Center Tuzla, initially presented with psychiatric and neurological symptoms, diagnosed at etiologic cause on the basis of biochemical abnormalities of a copper metabolisam, treated with etiological therapy and obtained therapeutic effect.

Case report

An 18 years old boy admitted to Department of Psychiatry, University Clinical Center Tuzla, with prior history of behavioral disturbances in the form of disinterest in the surroundings, decreased interactions with family and with signs of aphasia. Neurological examination revealed drooling of saliva, tongue protrusion and generalized cogwheel rigidity.

Symptomatic treatment started with no therapeutic efficacy. After laboratory testings were done, findings showed low serum copper and ceruloplasmin levels, and with positive Kayser-Fleischer rings on ophtalmoscopic examination by slit lamp, and computerized tomography of the head indicate neuro-degenerative disease, Wilson disease has been diagnosed. After psychiatric observation and treatment started, patient was transferred to Department of Neurology, University Clinical Centre Tuzla. The patient responded very well to therapy with D - penicillamin, Clozapin, essential phospholipids, vitamins and pyridoxin. Regular follow up advised to evaluate the outcome.