/ Child. Psychol. Psychiat. Vol. 27, No. 5, pp. 697-700, 1986 0021-9630/86 $3.00 + 0.00Printed in Great Britain. Pergamon Journals Ltd.

© 1986 Association for Child Psychology and Psychiatry.

WILSON'S DISEASE IN AN ADOLESCENT DISPLAYING ANADJUSTMENT REACTION TO A SERIES OE LIEE STRESSORS:

A CASE STUDY

ALAN CARR and DERMOT J. MCDONNELL

Abstract—The case is presented of a 13 year old boy suffering from Wilson's disease. Initially, his medicalcondition was, to a large degree, masked by a range of behavioural and emotional problems whichfollowed directly in the wake of a series of major life stresses.

Keywords: Wilson's disease, adjustment reaction

INTRODUCTION

HEPATOLENTICULAR degeneration, or Wilson's disease, is a rare autosomal recessivelyinherited disorder. In Wilson's disease biliary excretion of copper, and its incorporationinto caeruloplasmin, are both severely impaired. However, the basic mechanismunderlying these two disturbances is not yet known. Defective biliary excretion leadsto accumulation of copper in the liver and progressive liver damage occurs. Depositsof copper in other tissues, particularly the basal ganglia, also occur. Extrapyramidaldisturbances, notably dysarthria and poor coordination, are the major neurologicalconcomitants of Wilson's disease. Deposition of copper in the cornea produces Kayser-Fleischer rings in 95% of cases. A deficiency of serum caeruloplasmin, low serumcopper, increased urinary copper excretion, and increased liver copper concentrationtypically occur. The prevalence of the disease is of the order of 1 in 100,000 live births,and patients most often first present in late childhood or early adolescence. Initialpresentation may be as an hepatic, neurological or psychiatric disorder. (A detailedreview of the literature is presented in Danks, 1983.)

Since Wilson's (iyi2) seminal paper, many srudies have shown that psychiatricsymptoms and behavioural problems occur in a majority of cases at some point duringthe course of the disorder (Beard 1959; Davidson & Bagley, 1969; Scheinberg, Sternleib& Richman, 1968; Sternleib & Scheinberg, 1964; Walker, 1969). The patterns ofpsychiatric symptoms which occur are so variable that individuals with the disordermay receive a wide variety of psychiatric diagnoses, including emotional disturbance,conduct disorder and schizophrenic or schizophreniform psychotic disorders.

The degree of intellectual deterioration as assessed by psychometric tests andobservations of academic or occupational underachievement appears to be a functionof the duration for which individuals have had the disease without treatment (Davis& Goldstein, 1974; Knehr & Beam, 1956; Scheinberg et al, 1968).

Requests for reprints to: Dr. Alan Carr, Dept. of Child and Family Psychiatry, West Norfolk andWisbech Health Authority, Thurlow House, Goodwin's Road, King's Lynn, Norfolk, U.K.

Accepted manuscript received 11 February 1986

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698 A. CARR AND D. J. McDONNELL

Adjustment reaction with mixed disturbance of emotions and conduct is thediagnostic category outlined in ICD-9 and DSM-111, to accommodate individualswho display a decrease in social and occupational functioning, abnormal emotionalfeatures and conduct problems following major life stressors (APA, 1980; WHO, 1977).In the case described here an adjustment reaction, following major life stressors, tosome extent masked Wilson's disease, thereby posing a diagnostic challenge.

CASE HISTORY

M is a 13 year old boy, who has one brother, aged 9, and whose parents divorced 6 years ago. Atthe time of the divorce M's father took custody of him, and later took custody of his brother also. Mwas well adjusted both at home and in school until his father remarried over 4 years ago. From thenuntil October 1984, M's behaviour has steadily deteriorated. He has, when thwarted, displayed frequenttantrums and been physically and verbally abusive to his stepmother and his three half-siblings. Mhas also refused to attend or return from school unless accompanied by his father. In reflecting on thatperiod of his life M says that he "felt pushed out" of his family.

In October 1984, because his father and stepmother feh unable to deal with him, M moved to livewith his mother and stepfather. His brother had also moved to this house in the previous 12 months.The fifth member of this household was M's 20 year old half-brother, M's mother's child by her firstmarriage. Between October 1984 and March 1985 further deterioration occurred in M's behaviour.He became very clumsy; showed marked mood swings with inappropriate tearfulness and laughter;he often talked to himself; his speech was slurred; and he developed nocturnal frequency.

During his last year living with his father, he had transferred from primary to secondary school.When he moved to his mother's M changed schools once more. Reports from the three schools indicatea clear decline in academic performance. M's academic achievement had been well above average inprimary school. By March 1985 he was almost bottom of the class. His peer relationships had alsodeteriorated. He was mocked at school because of his clumsiness and his slurred speech. M had becomea social isolate and was experiencing considerable personal distress.

At this point his GP referred him to the Paediatric Outpatient Department of Queen Elizabeth Hospitalin King's Lynn. The GP's primary concern was with M's bizarre behaviour which he believed to bethe boy's response to the separation from his father.

INVESTIGATIONS

The only significant aspect of M's medical history was a series of frequent respiratory infections.Dysarthria and clumsiness were noted during the neurological examination. Psychiatric and psychologicalconsultations were requested at this point.

The psychiatric examination confirmed the presence of an adjustment reaction with a mixed disturbanceof emotion and conduct. The following were identified as the major stressors preceding M's adjustmentreaction: (a) his fathers remarriage, (b) a poor relationship with his stepmother, (c) the birth of threestep siblings who usurped his position as the main focus of his father's attention, (d) moving to his motherand stepfather's home, and (e) changing schools twice in 18 months. These stressors could accountfor much of M's oppositional conduct, his mixed feelings of depression and anxiety, and his underachieve-ment at school. There was difficulty, however, outruling an organically based neurological disorderor a conversion hysteria because of the presence of mild chorea like symptoms. Sydenham's choreawas considered as a differential possibility but thought unlikely when an antistreptolysin titre provednegative.

Phenomenological and psychometric investigations were then conducted. The phenomenologicalexamination confirmed that M had developed a series of strategies to control involuntary limb andhead movements. For example, M fixed his gaze on certain objects to stop his head nodding. Whenasked about his habit of talking to himself, he mentioned that he was often surprised when he foundhimself doing this as he intended only to "think" the ideas that he verbalised. Similarly, his inappropriate

WILSON'S DISEASE 699

laughter stemmed from an inability to inhibit his response to memories of funny stories and incidents.His temper tantrums and tearfulness, he described as a response to both his family circumstances, hisdeveloping clumsiness, and the decline in his ability to do well at school. The psychometric test resultsclearly indicated that M's capacity to focus and maintain concentration had deteriorated markedly fromthe pre-morbid level. (On the WISC-R his FSIQwas 92, but he obtained scaled scores of only 7, 6and 2 on the Digit Span, Picture Arrangement, and Coding subtests respectively.) Following thisexamination it was concluded that in addition to the adjustment disorder, this child displayed a clusterof symptoms (including involuntary limb and head movements, a slight dysdiadochokinesis, inappropriatelaughter, talking to himself, and the inability to focus and sustain concentration), which were consistentwith the diagnosis of an organic cerebral disease.

A cranial CT scan and EEG were requested. While the EEG showed very minor abnormalities ofno diagnostic importance, the results of the CT scan revealed diffuse brain stem and cerebral atrophy,and localised low density areas in the region of the basal ganglia. At this point Wilson's disease wassuspected.

The patient was then transferred to Addenbrook?s Hospital. Clinical examination confirmed thepresence of Kayser-Fleischer Rings, slight enlargement of the liver and a palpable spleen (2 cm). Abiopsy revealed a grossly abnormal liver, with a liver copper concentration of 100.2 /tg/g (normal range:20-50). A serum copper level of 27.8 fig/dl (normal range: 65-110), a urine copper level of 304 /Ag/24hours (normal range: less than 30), and a serum caeruloplasmin level of zero (normal range: 30-60mg/dl) were obtained. The results of these additional investigations confirmed the diagnosis of Wilson'sdisease.

The patient was discharged on Trientin 600 mg bd (Walsh, 1982). In view of his cognitive deficits,special educational provision was obtained for M. Social work interventions which addressed M'sadjustment reaction were also made.

DISCUSSION

The case illustrates the diagnostic challenge posed by a child with Wilson's diseasewho also presents with a range of conduct and emotional problems in the wake ofmajor life changes.

At a clinical level the challenge involved teasing the symptoms apart into two broadclusters, i.e. those cognitive, affective and behavioural changes attributable to a seriesof life stressors, and a residual constellation of neurological and psychiatric symptoms,the etiology of which was determined through further investigations.

A number of impediments to achieving the dual diagnosis in this case may beidentified. Firstly, the life stressors and adjustment reaction symptomatology werehighly S2ilient and to some degree masked the additional metabolic disorder. Secondly,the patient's family construed all of his symptoms as an adjustment reaction, and framedmany of their observations of the patient's behavior from this point of view. Thirdly,the patient had developed a number of strategies to partially control involuntarymovements, and thereby obscure one of the neurological hallmarks of Wilson's disease.Fourthly, since adjustment reactions are relatively common and such reactionsaccompanied by Wilson's disease are rare, clinicians are less likely to entertain thedual diagnosis given in this case.

The efficiency with which the dual diagnosis was jeached highlights the value ofclosely co-ordinated multi-disciplinary work.

Acknowledgements— We wish to express our appreciation to Dr. M. Moffat and Dr. J. Dossetor at QueenElizabeth Hospital, King's Lynn, and to Dr. C. Morley and Dr. J. Walsh at Addenbrooke's Hospital,Cambridge. Finally a word of thanks to Dr. G. Randell for her comments on the final draft of the paper.

700 A. CARR AND D. J. McDONNELL

REFERENCES

American Psychiatric Association (1980). Diagnostic and statistical manual of the mental disorders (3rd edn).Washington, D . C : APA Press.

Beard, A. W. (1959). The association of hepatolenticular degeneration with schizophrenia. Acta Psychiatricaet Neurologica Scandinavica, 34, 411-428.

Danks, D. M. (1983). Hereditary disorder of copper metabolism in Wilson's disease and Menk's disease.InJ . B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. L. Golstein & M. S. Brown (Eds),The metabolic basis of inherited disease (5th ed pp. 1251-1269). New York: McGraw-Hill.

Davidson, K. & Bagley, C. R. (1969). Schizophrenia-like psychoses associated with organic disordersof the central nervous system: a review of the literature. In R. N. Herrington (Ed.), Current problemsin neuropsychiatry: British Joumal of Psychiatry Special Publication, No. 4 (pp. 113-184). Ashford, Kent:Headley Brothers.

Davis, L. J. & Goldstein, N. P. (1974). Psychologic investigation of Wilson's disease. Mayo ClinicProceedings, 49, 409-411.

Knehr, C. A. & Beam, A. G. (1956). Psychological imparement in Wilson's disease. Joumal of Nervousand Mental Disease, 124, 251-255.

Scheinberg, I. H., Stemlieb, I. & Richman, J. (1968) Psychiatric manifestations in patients with Wilson'sdisease. In D. Bergsma (Ed.), Wilson's disease, birth defects original article series. Vol. 4, No. 2 (pp.85-87). New York: The National Foundation.

Sternleib, I. & Scheinberg, I. H. (1964). Penicillamine therapy for hepatolenticular degeneration.yourwa/of the American Medical Association, 189, 748-754.

Walker, S. (1969). The psychiatric presentation of Wilson's disease (hepatolenticular degeneration)with an etiologic explanation. Behavioral Neuropsychiatry, 1, 38-43.

Walsh, J. M. (1982). Treatment of Wilson's disease with trientine (triethylene tetramine) dihydrochloride.Lancet, March, 643-674.

Wilson, S. A. K. (1912). Progressive lenticular degeneration: a familial nervous disease associatedwith cirrhosis of the liver. Brain, 34, 295-509.

World Health Organization (1977). Manual of the international statistical classification of disease, injuries, andcauses of death (9th revision). Geneva: WHO Press.