Mismanagement of Wilson's disease as psychotic disorder
A 33-year-old single and unemployed male patient with irritability and life of a recluse since 10 years ago was socially active until the onset of the Wilson's disease (WD). The patient is the second child of a five children family and the parents are fourth degree relatives. He had the history of four times febrile seizures in his childhood. He had a developmental retardation in comparison with the others of his age and because of some behavioral problems and a decrease in his educational function he was expelled from school at the age of eighteen. The patient's sister was diagnosed with bipolar disorder type I and was under treatment with depakin. No other disorders including WD were reported in his family.\nThe first signs and symptoms (elementary visual pseudohallucination, commanding auditory hallucination, delusion of grandiosity, delusion of reference, inappropriate affect and abstract thinking, excessive anger, irritability, physical quarrel, inappropriate laugh, early insomnia, disinhibited behaviors such as masturbation in front of the others) appeared at the age of 23.\nAfter visiting by a psychiatrist, diagnosis of schizophrenia was made for him based on his symptoms. Therefore, he has started to take antipsychotic medications including haloperidol 0.5 mg/day, chlordiazepoxide 25 mg/day, thioridazine 110 mg/day, and piracetam 800 mg daily was prescribed for him but without resulting in any significant changes in his symptoms and he had several periods of partial remissions and relapses. Because of no significant improvement in his disease course other therapies like mood stabilizer (carbamazepine, lithium), TCA (amitryptiline), benzodiazepines (chlordiazepoxide, clonazpam), piracetam, and trihexyphenidyl was used for him for almost ten years. The patient's response to new medication was desirable and most of the symptoms were relieved after adding them to his therapy. At the age of 33-year old, the patient was brought to emergency room (ER) due to sever aggression, stereotypic movements (circulatory movements of fingers), dystonia in his neck and right shoulder, irritability, and inappropriate laughing. He was admitted to the psychiatry ward and auditory hallucination, idea of reference, poverty of content of thought, decreased attention, no orientation of time, impaired recent memory, impaired judgment and poor insight were detected during his interview. In Wechsler test for adults (WAIS-III) mild mental retardation (verbal IQ = 60, full scale = 69) was detected. He was also complaining of sever itching and icteric sclera was detected in his physical examination. Therefore, liver function test (LFT) was performed, and these results were reported: Total bilirubin = 10.2 mg/dl, Direct bilirubin = 7.8 mg/dl, Aspartate aminoteransferase = 37 IU/L, Alanine aminoteransferase = 48 IU/L, Alkaline phosphatase = 301 IU/L. In other laboratory data, microcytosis anisocytosis in his complete blood count, negative HCV and negative HIV were reported. Substance test result was negative. Patient's EEG was reported normal. His psychotic symptoms were managed by using antipsychotics and consultation with an Internist was made regarding his other problem. Finally, the abnormalities in his laboratory tests was considered as the side effect of some of his anti-psychotic medications like Clozapine which were discontinued at the time of diagnosis and patient was discharged from the hospital after ten days of therapy.\nAfter three months, he came to the ER again, with the prominent signs of cholecystitis. He was still icteric and the laboratory test results were: Total bilirubin = 5.8 mg/dl, Direct bilirubin = 3.7 mg/dl, Aspartate aminoteransferase = 112 IU/L, Alanine aminoteransferase = 192 IU/L, Alkaline phosphatase = 344 IU/L. Patient was admitted to the surgery ward and cholecystectomy was performed and another consultation with an internal medicine specialist was made. After laboratory and neuroimaging examinations he was diagnosed with WD. The patient was diagnosed with DSM-IV Axis I psychotic disorder due to WD, with delusions. The ceruloplasmin blood concentration was 9 mg/dl (reference range 30–58 mg/dl) and copper blood concentration was 48 μg/dl (reference range 70–140 μg/dl), with urine copper excretion 2945 μg/day (2000 ml; reference range 15–60 μg/day), repeated in the control examination. No other biochemical abnormalities were found. The ophthalmologist diagnosed bilateral Kayser-Fleisher rings. He was given penicillamine 500 mg/day.\nAfter six months of follow up, a significant improvement with his psychotic symptoms was observed. The remission of psychosis with complete relief of systemic delusion resulted in the re-establishment of chelating therapy accompanied by normalization of biochemical assays and gradual improvement of neurological state. Informed consent for the publication of the case was obtained from the patient.