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Year : 2018  |  Volume : 11  |  Issue : 2  |  Page : 180-181  

Wilson's disease: A case report with primary psychiatric presentation, a reason to investigate

1 Graded Specialist, Military Hospital, Jammu, Jammu and Kashmir, India
2 Department of Psychiatry, Fortis Hospital, Kolkata, West Bengal, India

Date of Web Publication18-May-2018

Correspondence Address:
Sriniwas Gupta
Graded Specialist, Military Hospital, Jammu, Jammu and Kashmir
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Wilson's disease (WD) or hepatolenticular degeneration is a rare genetic disorder involving excessive copper accumulation in the liver and brain. It can present with a myriad of presentations, ranging from neurological, motor, hepatic, and psychiatric. A high level of suspicion needs to exist among the mental health professional if the initial presentation is only psychiatric. We present a case of a 12-year-old male patient presenting with mood disturbances and sexual disinhibition, later diagnosed as WD.

Keywords: Ceruloplasmin, psychiatric manifestations, Wilson's disease

How to cite this article:
Gupta S, Dutta E. Wilson's disease: A case report with primary psychiatric presentation, a reason to investigate. Med J DY Patil Vidyapeeth 2018;11:180-1

How to cite this URL:
Gupta S, Dutta E. Wilson's disease: A case report with primary psychiatric presentation, a reason to investigate. Med J DY Patil Vidyapeeth [serial online] 2018 [cited 2022 Jun 25];11:180-1. Available from: https://www.mjdrdypv.org/text.asp?2018/11/2/180/232649

  Introduction Top

Wilson's disease (WD) is an autosomal recessive genetic disorder, caused by mutation in the ATP7B [1] gene, with a resultant impairment of biliary excretion of copper. As a result, copper accumulates in the liver, brain, eyes, and other tissues, giving rise to neurological, psychiatric, and hepatic symptoms. Kinnier Wilson, in 1912,[2] provided the first detailed, description of both the clinical and pathological details of the disease. The characteristic Kayser–Fleischer (K-F) rings were described as the rings of corneal pigmentation by Kayser in 1902[3] and Fleischer in 1903.[4] A prevalence rate of one per 30,000 has been reported from the West. It is more frequent in communities that have high consanguinity.[5] There are no community-based incidence and prevalence studies of WD in India.

Psychiatrists often face the dilemma when faced with adolescent-onset first-episode psychosis, as to whether the conditions are “organic” or “functional.” A keen insight and index of suspicion, like in the following case, depicts the importance of laboratory tests when in doubt. We present a case of young boy, who was referred from pediatric department along with the management carried on later, in liaison.

  Case Report Top

A 12-year-old Muslim male child from a consanguineous marriage belonging to an upper middle class was referred from pediatric outpatient department with sudden onset “inappropriate behavior.” The mother stated that the child had over the past 2 weeks started abusing her, had become extremely moody and overtalkative. On one instance, he abused an elderly neighbor without any provocation. Tuition teacher stated that he kept distracting the class and got extremely angry when told to keep quiet. Two days back, he touched his sister's breast inappropriately and began to laugh. His sleep was poor, and he would not stay put in one place.

On meeting with us, he was over familiar, sat very close to the staff and cracked inappropriate jokes. His speech was rapid. Psychomotor agitation was noted. He denied any complaints stating that he was “perfectly alright” and it was his mother who needed treatment. The child was well oriented to time, place and person, mood was euphoric. Inflated self-esteem was recorded along with grandiose ideas in the form of ideas that he will surely become the Prime Minister when he grows up. Denied any perceptual abnormalities.

There was no family history of any psychiatric illness. No history of substance use, past illnesses, or ADHD. No prenatal, perinatal, or postnatal complications. Developmental milestones were normal. The patient began attending school at 5 years of age, was above average in performance. However, formal testing of executive functions was not carried out.

Vitals were stable. Very fine tremors of both upper extremities were noted.

On routine basic laboratory investigations – Blood count, serum electrolytes, renal function tests, and ESR were all within normal range. Liver function test was considerably deranged. He had S. Bil level of 2.8 mg%, aspartate transaminase/alanine transaminase were 156/76 IU/L, Alkaline Phosphatase level was 38 IU/L which increased our suspicion. Detailed examinations were done in depth. K-F ring was seen on slit lamp examination. ASO titer, C-reactive protein, Rh factor– negative. Urinary copper excretion/24 h was increased which was 220 mcg (normal = 0–150) and serum ceruloplasmin was 10.0 ug/dl (normal-25–63ug/dl).

Ultrasonography abdomen revealed mild splenomegaly with a mildly cirrhotic but normal in size liver. MRI Brain showed altered signals in the bilateral lentiform nucleus, thalami, mid brain, and pons consistent with metabolic disorder (WD).

A working diagnosis of organic manic disorder (ICD-10, F = 06.30) was given, and he was started on tablet olanzapine 2.5 mg at night, titrated up to 7.5 mg over the next 2 weeks. Pediatrician started him on tablet D-Penicillamine 250 mg 2 tablets twice a day with zinc sulphate, monosulfate 137.5 mg and pyridoxine 10 mg/day for 15 days. Over the next few follow-ups, he was observed, and after 4 months, the antipsychotic was tapered off and stopped. The child is doing well now. However, sibling was not screened of WD due to the unwillingness of parents as he did not have any complaints.

  Discussion Top

WD is a rare metabolic disorder affecting the hepatic, neurological systems, due to abnormal copper metabolism. The early presentation is usually neurologic (40%) or hepatic (40%), whereas the psychiatric presentation is less common (10%–20%).[6]

The genetic involvement of the ATP7B gene can be mapped to the chromosome 13 (13q 14.3)[1] Genetic testing can help confirm the diagnosis. However, issues like expense and the multiple mutations of ATP7 makes genetic testing an impractical affair in our country.

The onset is commonly seen in young males, below 16 years of age.[7] The psychiatric presentation is usually that of mood swings, especially depression, frequent outbursts of anger, and personality changes. This can easily be confused for a diagnosis of schizophrenia, mood disorders, or adolescent crisis in young adults. Psychosis is not common but may occur.[7] Behavior ranging from anti-social, criminal, sexual preoccupation, and disinhibition has been reported. The most common neurological feature of WD is tremors, which may be resting, postural, or kinetic. Proximal upper extremity tremor may take on a coarse, “wing-beating” appearance.[8]

Many authorities have debated on the role of different antipsychotics. Oral chelation treatment with Penicillamine remains the main-stay of treatment and it helps reverse not only the hepatic and neurological symptoms but also the behavioral symptoms too.[9] There is a need to further study if chelating agents alone can suffice for the treatment of behavioral symptoms of WD or if there is need of addition of antipsychotic medication.

Our case highlights that a high index of suspicion should be there in case of the young presenting with psychiatric symptoms. Due to the varied and sometimes subtle way in which the psychiatric features of WD can present, it should be considered and excluded in any young person who develops unexplained psychiatric dysfunction, especially with neurological dysfunction. Treatment is long-term. However, it does make the person functional. Liver transplant can be resorted to if the condition worsens.

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  References Top

Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993;197:271-7.  Back to cited text no. 1
Kinnier Wilson SA. Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver. Brain 1912;34:295-507.  Back to cited text no. 2
Kayser B. A pigmented ring at the outer edge of the cornea of the eye; A symptom of Wilson's Disease. Klin Monbl Augenheilkd 1902;40:22-5.  Back to cited text no. 3
Fleischer B. Two more cases of greenish discolouration of the cornea. Klin Monbl Augenheilkd 1903;41:489-91.  Back to cited text no. 4
El-Youssef M. Wilson disease. Mayo Clin Proc 2003;78:1126-36.  Back to cited text no. 5
Olivarez L, Caggana M, Pass KA, Ferguson P, Brewer GJ. Estimate of the frequency of Wilson's disease in the US Caucasian population: A mutation analysis approach. Ann Hum Genet 2001;65:459-63.  Back to cited text no. 6
Benhamla T, Tirouche YD, Abaoub-Germain A, Theodore F. The onset of psychiatric disorders and Wilson's disease. Encephale 2007;33:924-32.  Back to cited text no. 7
Mak CM, Lam CW. Diagnosis of Wilson's disease: A comprehensive review. Crit Rev Clin Lab Sci 2008;45:263-90.  Back to cited text no. 8
Roberts EA, Socha P. Wilson disease in children. Handb Clin Neurol 2017;142:141-56.  Back to cited text no. 9


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