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

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

[Article in French]

Author information

1
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.
2
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.
3
Réanimation polyvalente, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France.
4
Médecine pédiatrique, CHRU de Tours, 49, boulevard Béranger, 37000 Tours, France.
5
Médecine interne, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France; UFR de médecine, université François-Rabelais, Tours, France.
6
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.
7
Centre national de référence de la maladie de Wilson, CHU Lariboisière, AP-HP, Paris, France.
8
Ophtalmologie, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France.

Abstract

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

PMID:
27639912
DOI:
10.1016/j.revmed.2016.08.010
[Indexed for MEDLINE]

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