Wilson disease is an autosomal recessive metabolic disorder involving copper metabolism and is associated with abnormal liver functions. It is a genetic disorder with hepatic, neurological and psychiatric manifestations. The most common psychiatric manifestations in patients with Wilson’s disease include sudden and changeable mood swings, anger outbursts, personality changes, depression, anxiety and cognitive impairment. when patient initially presents with psychiatric manifestations, it can obscure the primary diagnosis and therefore the diagnosis of Wilson’s disease should be kept in mind. here we present the case of 22yr old male initially presented with behavioural abnormalities and later was diagnosed to be Wilson’s disease.
Introduction: Dr. Wilson published description of 12 patients who presented with extrapyramidal motor disease and an autopsy demonstrating softening of lenticular nucleus and cirrhosis. In the initial description of 12 cases of the disease,Dr Wilson described presence of schizophrenia-like psychosis in two of his cases. Psychiatric symptoms ranging from major depression, mania, antisocial behaviour to psychoses were observed in cases with Wilson’s disease. It is later found to be a genetic disorder transmitted through autosomal recessive mode and involving copper metabolism characterised by excessive deposition of copper in liver, brain and other tissue. Genetic defect was localised to short arm of chromosome 13 affecting ATPase(ATP7B)1 gene in liver presenting with hepatic manifestations(40%),neurologic manifestations(40%),psychiatric manifestations occur in one fifth2. Neuropsychiatric and behavioural disturbances are commonly reported in patients with Wilson’s disease with lifetime prevalence estimated to be in the range of 20-100%.
We present a case report in which the patient initially presented with psychotic features, who on investigations found to have Wilson’s disease.
Case Report: A 22year old male born out of non-consanguineous marriage from rural background was brought to psychiatry out patient department of Government Hospital for Mental Care, Visakhapatnam with complaints of behavioural abnormalities since one week with exacerbation of symptoms since 3 days. The behavioural abnormalities are in the form of decreased sleep, decreased appetite, increased irritability,talking excessively, over socialisation, talking high of self, increased religiosity, increased patriotism, abusive and aggressive behaviour. He was reportedly treated for aggression with inj. Haloperidol the day before he came to us.
Birth and development were normal with no significant past history. In family history his elder brother was found dead in the fields at the age of 10 years and was asssumed to be dead due to some snake bite. His younger sister died due to jaundice and ascites at the age of 13years. Prior to illness, he is a cheerful boy, with average performance at school and regular to school. General physical examination revealed normal vital parameters with no icterus, a ring around his cornea, tatoo of Indian map with cross inside it on his left forearm. Higher mental functions revealed impaired attention span. He is well oriented to time, place, person and his recent/immediate/remote memory were found to be intact with impaired abstract abilities. his Neurological examination revealed no abnormalities in cranial nerves, sensory system and no cerebellar signs with motor system revealing tremors on out stretched hand.
At the time of admission mental status examination revealed an averagely built male, wearing soiled white uniform with tie and greeted the examiner as teacher and saluted the examiner. He was conscious,uncooperative,not maintaining eye contact with increased psychomotor activity with decreased reaction time, talking excessively in loud voice. Delusion of grandiosity and second person type auditory hallucination are present. He was found to be irritable throughout the interview. routine blood investigations like CBC, LFT, S. Creatine, urine routine were done and found to be normal.
He was provisionally diagnosed as a case of bipolar affective disorder -mania and was initially started on oral olanzapine and injectable antipsychotics. Later the patient developed tremors and slurring of speech for which trihexyphenidyl was added and for the improvement of affective symptoms lithium carbonate was added. In view of significant family history and acute onset of behavioural abnormalities further work up on case was done with differential diagnosis of Wilson’s disease.
On developmental screening test, his IQ was 84 with dull normal intellectual functioning. On slit lamp examination bilateral KF rings are present. His ultrasound abdomen showed chronic hepatic parenchymatous disease. His MRI brain showed subcortical white matter hyperintensity in left frontal lobe,calcified high right parietal lobe granuloma and bilateral lentiform nucleus T2 and FLAIR hyperintensity suggestive of Wilson’s disease. Urinary analysis revealed elevated copper levels of 108µg/24hrs and serum ceruloplasmin levels of. 46g/l. he was maintained on olanzapine 15 mg,6mg of trihexyphenidyl,900mg of lithium carbonate and 400mg zinc sulphate. He improved symptomatically with the treatment, was discharged with the same treatment.
Discussion: Wilson’s is a autosomal recessive disorder characterised by inability of liver to transport and store normally absorbed dietary copper resulting in abnormal deposition of copper in basal ganglia, eyes, liver and other tissues. This is an unusual presentation of Wilson’s disease, here the patient had a history of abnormal behaviour for 7 days and with significant family history and a differential diagnosis of Wilson’s disease was considered and on further evaluation he was diagnosed with Wilson’s disease. The patient was controlled on 15 mg of olanzapine and 900mg lithium carbonate. Some authorities believe that neurological and behavioural symptoms can be relieved with use of pencillamaine (mosai et al 1985).some reports stated antipsychotic use as inadvisable. There are reports of effectiveness of clozapine in management of wilsons disease (krim et al 2001). There is further need to study the efficacy if various antipsychotics and chelating agents in the management of wilsons disease.
Keywords: Wilsons disease, Psychiatric disorder
