Year: 2011
Type: article
Abstract: 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.
Source: Brazilian Journal of Psychiatry
Institution: Universidade Federal de Minas Gerais
Language: English
Topic: Trace Elements in Health
Subfield: Nutrition and Dietetics
Field: Nursing
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W2008931715