[Ecchymosis as the presenting manifestation of Wilson disease: A case report]

Rev Med Interne. 2017 Jun;38(6):416-419. doi: 10.1016/j.revmed.2016.08.010. Epub 2016 Sep 14.
[Article in French]


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.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Delayed Diagnosis
  • Diagnosis, Differential
  • Ecchymosis / diagnosis*
  • Ecchymosis / etiology
  • Ecchymosis / therapy
  • Female
  • Hepatolenticular Degeneration / complications
  • Hepatolenticular Degeneration / diagnosis*
  • Hepatolenticular Degeneration / therapy
  • Humans
  • Liver Transplantation
  • Magnetic Resonance Imaging