title: [Ecchymosis as the presenting manifestation of Wilson disease: A case report].
abstract: BACKGROUND
  The presence of a psychiatric disorder during the course of an organic disease is a common cause of delayed diagnosis.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Réanimation polyvalente, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France; Médecine interne, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France. Electronic address: guillaume.bayer@hotmail.fr.
authors.forename: G
authors.initials: G
authors.lastname: Bayer
authors.affiliation: Réanimation polyvalente, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France; Médecine interne, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France.
authors.forename: A
authors.initials: A
authors.lastname: Bauvois
authors.affiliation: Réanimation polyvalente, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France.
authors.forename: J
authors.initials: J
authors.lastname: Mankikian
authors.affiliation: Médecine pédiatrique, CHRU de Tours, 49, boulevard Béranger, 37000 Tours, France.
authors.forename: M
authors.initials: M
authors.lastname: Tardieu
authors.affiliation: Médecine interne, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France; UFR de médecine, université François-Rabelais, Tours, France.
authors.forename: F
authors.initials: F
authors.lastname: Maillot
authors.affiliation: UFR de médecine, université François-Rabelais, Tours, France; Chirurgie digestive, oncologique et endocrinienne, transplantation hépatique, CHRU de Tours, avenue de la République, 37170 Chambray-lès-Tours, France.
authors.forename: E
authors.initials: E
authors.lastname: Salame
authors.affiliation: Centre national de référence de la maladie de Wilson, CHU Lariboisière, AP-HP, Paris, France.
authors.forename: F
authors.initials: F
authors.lastname: Woimant
authors.affiliation: Centre national de référence de la maladie de Wilson, CHU Lariboisière, AP-HP, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Poujois
authors.affiliation: Ophtalmologie, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France.
authors.forename: M
authors.initials: M
authors.lastname: Viana
authors.affiliation: Réanimation polyvalente, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France.
authors.forename: A
authors.initials: A
authors.lastname: Legras
mesh_terms: D000293:Adolescent; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D004438:Ecchymosis / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D005260:Female; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D016031:Liver Transplantation; D008279:Magnetic Resonance Imaging
keywords: Cirrhose hépatique; Imagerie par résonance magnétique nucléaire; Liver cirrhosis; Liver transplantation; Magnetic resonance imaging; Maladie de Wilson; Mental disorder; Transplantation hépatique; Troubles psychiatriques; Wilson disease