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Rev Med Interne ; 38(6): 416-419, 2017 Jun.
Artigo em Francês | MEDLINE | ID: mdl-27639912

RESUMO

INTRODUCTION: The presence of a psychiatric disorder during the course of an organic disease is a common cause of delayed diagnosis. CASE REPORT: We report a 16-year-old girl who was admitted with thrombocytopenia and had a two-year history of neuropsychiatric disorder which was attributed to a difficult family situation. Neurological examination showed a frontal lobe disorder and extrapyramidal manifestations. The thrombocytopenia was attributed to liver cirrhosis. These neurological and hepatic injuries were consistent with a metabolic disease, most likely Wilson disease. This was supported by the presence of a corneal Kayser-Fleischer ring and a decreased ceruloplasmin concentration. An urgent liver transplantation was required due to worsening neurological symptoms. CONCLUSION: Wilson disease is a rare genetic disease caused by copper toxicity. It is characterized by combined hepatic and neurologic damage to varying degrees and can develop at any age. Urgent treatment is required, but the diagnosis may be delayed by prevailing psychiatric symptoms.


Assuntos
Equimose/diagnóstico , Degeneração Hepatolenticular/diagnóstico , Adolescente , Diagnóstico Tardio , Diagnóstico Diferencial , Equimose/etiologia , Equimose/terapia , Feminino , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/terapia , Humanos , Transplante de Fígado , Imageamento por Ressonância Magnética
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