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CASE REPORT Table of Contents  
Ahead of print publication
Psychosis in Wilson's disease: A rare case presentation


1 Postgraduate, Department of Psychiatry, Institute of Mental Health, Osmania Medical College, Hyderabad, Telangana, India
2 Associate Professor, Department of Psychiatry, Institute of Mental Health, Osmania Medical College, Hyderabad, Telangana, India
3 Professor of Psychiatry, Department of Psychiatry, Institute of Mental Health, Osmania Medical College, Hyderabad, Telangana, India

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Date of Submission13-Sep-2020
Date of Acceptance08-Jan-2021
Date of Web Publication11-Mar-2021
 

  Abstract 


Wilson's disease is an uncommon genetic disorder, in which abnormal copper accumulation occurs in various parts of the body. Approximately 30% of patients debut with neuropsychiatric symptoms posing a diagnostic challenge in the initial phase. In this report, we present a case of a middle-aged woman with Wilson's disease who initially developed neurological symptoms such as shaking of hands and jerky movements of the head and later developed psychotic symptoms. We discuss the unique features of our case. Most patients with Wilson's disease develop psychiatric symptoms at some stage. The index case presented with psychosis, which is less commonly described compared to other psychiatric manifestations in patients with Wilson's disease. Currently, there are no treatment guidelines for the management of the same.

Keywords: Penicillamine, psychosis, Wilson's disease


How to cite this URL:
Sumedha KR, Rayirala A, Bipeta R. Psychosis in Wilson's disease: A rare case presentation. Arch Ment Health [Epub ahead of print] [cited 2021 Nov 29]. Available from: https://www.amhonline.org/preprintarticle.asp?id=311083





  Introduction Top


Wilson's disease (progressive hepatolenticular degeneration) is a rare autosomal recessive metabolic disorder, caused by mutation of ATP7B gene on chromosome 13.[1] It is characterized by impaired copper transportation and abnormal copper deposition in various organs, leading to hepatic, neurological, ophthalmological, and psychiatric manifestations.[1],[2] Psychiatric manifestations (10%–25%), with a mean age of onset of around 20 years, include personality disorders, mood disorders, anxiety, psychosis, cognitive impairment, and subcortical dementia.[1],[2]

Management aims at eliminating excess body copper and preventing its reaccumulation, using copper-chelating agents such as penicillamine, zinc sulphate, trientine, and ammonium tetrathiomolybdate.[1],[3] Penicillamine can produce worsening of neurologic symptoms and psychiatric consequences, including seizures and psychosis (penicillamine-induced psychosis).[3] Studies suggest that schizophrenia and other forms of psychosis are rare in Wilson's disease.[4],[5]

We discuss a case of Wilson's disease presented with psychotic symptoms, which is an uncommon presentation compared to other psychiatric manifestations.


  Case Report Top


A 36 year old female patient, homemaker, belonging to lower socioeconomic status presented with a history of abnormal behavior for the past 6 months. Her illness started with jerky movements of the head and shaking of the hands, 6 years before the current admission. Gradually, she stopped doing household work due to increased severity of abnormal movements.

Seven months before the current admission, she started to behave abnormally with easy irritability, verbally abusing, and shouting at family members. Most of the time, she used to sit alone, smiling inappropriately, gesturing in the air, and muttering to herself in a low tone of voice. Slowly, she started wandering in the village saying that she could hear nonexistent voices of few unknown people, in clear consciousness, inviting her to temples. Gradually, her sleep decreased from 6 to 7 h (premorbid) to 3–4 h and lately to 1–2 h/night. She had decreased appetite and would bathe once in 5–10 days.

After 1 month of abnormal behavior, she was taken to a private psychiatrist. Laboratory investigations revealed microcytic hypochromic anemia (hemoglobin: 9.4 g/dl), leukopenia (white blood cell count: 2100/μl), and thrombocytopenia (platelet count: 74,000/μl). Liver function tests indicated low total protein 5.7 g/dl (normal range, 6.4–8.3) and low globulin 2.0 g/dl (normal range, 2.5–3.8).

Based on the abnormalities in the above investigations, she was referred to a general physician to rule out organicity. On examination, a greenish-brown ring [Figure 1] encircling the iris in both the eyes was noted by the physician. Hence, she was referred to an ophthalmologist who examined and confirmed the ring as bilateral Kayser Fleischer rings on slit-lamp. Meanwhile, ultrasound abdomen was advised by the physician, which revealed chronic liver disease with portal hypertension and moderate splenomegaly. 24– urine copper 160 μg/day (normal range, 3–5 μg/day) and serum ceruloplasmin 3.0 mg/dl (normal range, 16–45 mg/dl) were also done. Computed tomography of the brain showed prominent ventricles and prominent sulci with mild diffuse cerebral atrophy.
Figure 1: A greenish-brown ring Figure 1] encircling the iris in the eye

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She was diagnosed as Wilson's disease based on increased urine copper and decreased ceruloplasmin levels. She was referred to a neurophysician for further management, who started her on treatment 3 months before the current admission (Oral D Penicillamine 500 mg/day escalated to 750 mg/day after 1 month, Zinc Sulphate 150 mg/day, Levodopa 300 mg/day, and Carbidopa 75 mg/ day). Abnormal movements of the head and tremors of the hands decreased partially, after 2 months of treatment. However, her psychiatric manifestations worsened 20 days before consultation at our center. She completely stopped sleeping at night, was continually muttering to self, and was argumentative, with further decrease in self-care as evident by bathing once in 15–20 days. Worsening of abnormal behavior made her noncompliant to anticopper medications, for which she was referred to our center.

On the day of consultation, she was ill-kempt with extreme agitation, inappropriately smiling, and was making abnormal gestures without any stimulus. Her speech was mostly irrelevant and incoherent, with decreased reaction time and increased tone. A detailed cognitive examination could not be done as she was highly distractible and irritable. General physical examination revealed abnormal jerky movements of the head, fine resting tremors of both the hands, and cogwheel rigidity in both the upper limbs. Ataxic gait with intact sensory system was noted.

She was diagnosed, according to the International Classification of Diseases, 10th revision (WHO 1992), as “unspecified mental disorder due to brain damage and dysfunction and to physical disease” (Wilson's disease) (F06.9).[6] The Brief Psychiatric Rating Scale (BPRS) was administered to rate the severity of psychiatric symptoms [Table 1].[7] She was started on quetiapine 25 mg/day, which was gradually increased to 100 mg/day over 10 days. As per the opinion of neurophysician, she was restarted on penicillamine 500 mg/day and zinc 150 mg/day. The psychiatric symptoms partially resolved with medications, with no drug-related adverse effects. There was a 23.8% drop in the BPRS score over next 10 days. However, the abnormal movements of the head and tremors persisted. She and her husband were counseled about the disease and advised regular follow-up with a neurophysician and a psychiatrist.
Table 1: The psychiatric symptom severity rating in patient with Wilson’s disease

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  Discussion Top


Psychiatric manifestations in Wilson's disease are grouped into four types: (i) affective disorders, (ii) behavior and personality abnormalities (very common), (iii) cognitive impairment, and (iv) schizophrenia-like states (rare).[1],[8],[9]

Wilson reported psychiatric manifestations in 8 out of 12 cases in his initial monograph.[8]

Nazariah et al. reported a case of 49-year-old Chinese female who presented with 6 months of psychosis secondary to Wilson's disease.[1] Our case presented similarly in neurological and psychiatric domains and was diagnosed accordingly. Wilson's disease should be included in differential diagnosis, especially in young adults presenting with first atypical psychiatric presentation.

In the presence of psychotic or behavioral symptoms, combination therapy with copper chelators and antipsychotics may be a reasonable approach.

The index case was treated with quetiapine 100 mg/day along with penicillamine 500 mg/day and zinc 150 mg/day.

Quetiapine was preferred as it has low EPS and hepatic injury risk.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Acknowledgment

We thank Prof. M. Uma Shankar, Superintendent, Institute of Mental Health, Hyderabad, India, and Prof. Rama Subba Reddy, HOD, Department of Psychiatry, Institute of Mental Health, Hyderabad, India, for their support and encouragement. We also thank the Department of General Medicine, Osmania General Hospital, Hyderabad, India, for their contribution in providing the treatment details.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Nazariah AH, Aisah AR, Anita C, Yeoh SH, and Ng, C.G. (2011). Psychiatric Presentation in Wilson disease-Report of Two Cases. Malaysian Journal of Psychiatry, December 2011;20:74-79.  Back to cited text no. 1
    
2.
Litwin T, Dusek P, Szafrański T, Dzieżyc K, Członkowska A, Rybakowski JK. Psychiatric manifestations in Wilson's disease: Possibilities and difficulties for treatment. Ther Adv Psychopharmacol 2018;8:199-211.  Back to cited text no. 2
    
3.
David AS, Fleminger S, Kopelman MD, Lovestone S, Mellers JDC, editors. Lishman's Organic Psychiatry. Oxford, UK: Wiley-Blackwell; 2009. Available from: http://doi.wiley.com/10.1002/9781444316803. [Last accessed on 2020 Nov 27].  Back to cited text no. 3
    
4.
Carta M, Mura G, Sorbello O, Farina G, Demelia L. Quality of life and psychiatric symptoms in Wilson's disease: The relevance of bipolar disorders. Clin Pract Epidemiol Ment Health 2012;8:102-9.  Back to cited text no. 4
    
5.
Wichowicz HM, Cubała WJ, Sławek J. Wilson's disease associated with delusional disorder. Psychiatry Clin Neurosci 2006;60:758-60.  Back to cited text no. 5
    
6.
World Health Organization, editor. The ICD-10 Classification of Mental and Behavioural Disorders: Clinical Descriptions and Diagnostic Guidelines. Geneva: World Health Organization; 1992. p. 362.  Back to cited text no. 6
    
7.
Overall JE, Gorham DR. The brief psychiatric rating scale. Psychol Rep 1962;10:799-812. 8. Mura G, Zimbrean PC, Demelia L, Carta MG. Psychiatric comorbidity in Wilson's disease. Int Rev Psychiatry 2017;29:445-62.  Back to cited text no. 7
    
8.
Mura G, Zimbrean PC, Demelia L, Carta MG. Psychiatric comorbidity in Wilson's disease. Int Rev Psychiatry 2017;29:445-62.  Back to cited text no. 8
    
9.
Dening TR, Berrios GE. Wilson's disease. Psychiatric symptoms in 195 cases. Arch Gen Psychiatry 1989;46:1126-34.  Back to cited text no. 9
    

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Correspondence Address:
Kota Raga Sumedha,
Postgraduate, Department of Psychiatry, Institute of Mental Health, Osmania Medical College, Hyderabad 500 018, Telangana
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/AMH.AMH_38_20



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