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Revista Brasileira de Psiquiatria

Print version ISSN 1516-4446

Rev. Bras. Psiquiatr. vol.33 no.1 São Paulo Mar. 2011 



Long-term mood disorder antedating the diagnosis of Wilson's disease


Transtorno de humor de longa data antecedendo o diagnóstico da doença de Wilson



Dear Editor,

We evaluated a young patient with a long history of psychiatric symptoms and misdiagnosis. After nine years of receiving many ineffective symptomatic therapies, she was diagnosed with advanced Wilson's disease (WD). We would like to present this case in order to raise awareness around the wide clinical spectrum of WD as well as around the need to establishing high clinical suspicion for this diagnosis.

A 17-year-old woman, the daughter of consanguineous parents, was admitted to a university hospital with the diagnosis of cryptogenic cirrhosis. Her clinical history revealed that, since the age of nine, she had been experiencing a series of episodes of excessive fear, anxiety and depression. As her depressive symptoms grew steadily worse, she was put on antidepressants, including amytriptiline and fluoxetine. At the age of 12, she committed two suicide attempts, which were followed by an episode of frank mania with psychotic symptoms, evidenced by her attempt to bury herself up. Between the ages of 12 and 17, she remained on mood stabilizing agents, including carbamazepine and valproic acid. This course of treatment was, however, unsuccessful.

Six months before hospitalization, she experienced weight gain and diffuse abdominal pain, followed by nausea and hyporexia. Ultrasonography and computed tomography (CT) of the abdomen revealed cirrhosis and ascites. Extensive serological studies, including HIV, hepatitis B and C, anti-LKM1, anti-mitochondrial, anti-smooth muscular and anti-nuclear antibodies were unrevealing. When admitted to the hospital, her abdominal pain had worsened and she presented with severe ascites and delirium. Neurological examination showed diffuse hyperreflexia and ankle clonus. Kayser-Fleischer rings were present bilaterally. Further investigation yielded 13 points on the Child-Pugh's classification (severe ascites, stage II encephalopathy, albumin level 2.1, international normalized ratio 2.74, bilirubin levels equal to 4.2). Alpha-fetoprotein at 45.1ng/ml (normal value: < 300ng/ml) and serum ceruloplasmin at 9.0mg/dl (normal value: 15-60mg/dl). Cranial CT showed enlargement of the ventricles and caudate atrophy. She rapidly became hemodynamically unstable, thus making death seemingly inevitable. Upon immediate investigation, family members disclosed that her two brothers had been diagnosed with WD. Her mother, who used fluoxetine on an irregular basis, had been diagnosed with depression and her uncle with schizophrenia.

WD is an autosomal recessive genetic disorder related to the metabolism of copper, which accumulates in several tissues such the brain, liver and cornea. Neurological and psychiatric symptoms may occur due to the presence of such copper deposits in the brain.1,2

In nearly 10% of the cases, the first signs of WD may manifest in the form of psychiatric symptoms. Several psychiatric manifestations have been reported.3 A study with 50 WD patients identified excessive talkativeness, aggressive behavior, loss of interest and abusiveness as the key behavioral changes.4 Twelve of these patients (24%) fulfilled the diagnostic criteria for a psychiatric condition: nine patients (18%) were diagnosed with bipolar disorder, two (4%) with major depression, and one (2%) with dysthymia. In another study,5 11 out of 14 patients with WD had a mood disorder and three presented a schizophreniform-illness.

This case report aims at emphasizing the relevance of considering WD as a possible diagnosis in young patients with psychiatric symptoms, especially in those with a family and past history of jaundice, extrapyramidal features, neuropsychiatric disorder and premature deaths of other siblings. Awareness about the heterogeneity of WD and a high rate of suspicion may have a prognostic implication.


Thiago Cardoso Vale
Neurology Service, Hospital das Clínicas, Universidade
Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil

Paulo Caramelli
Behavioral and Cognitive Neurology Research Group,
Department of Internal Medicine, Faculty of Medicine,
Universidade Federal de Minas Gerais (UFMG),
Belo Horizonte, MG, Brazil

Antônio Lúcio Teixeira
Department of Internal Medicine, Faculty of Medicine,
Universidade Federal de Minas Gerais (UFMG),
Belo Horizonte, MG, Brazil


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