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Primary Budd–Chiari syndrome in a 3-year-old boy with homozygous factor V Leiden G1691A mutation

Authors
  • Boskovic, Aleksandra1
  • Kitic, Ivana1
  • Stankovic, Ivica1
  • Prokic, Dragan1
  • Zlatar, Nada2
  • 1 Mother and Child Health Care Institute, Department of Gastroenterology and Hepatology, Radoja Dakica 6-8, New Belgrade, 11070, Serbia , New Belgrade (Serbia)
  • 2 Mother and Child Health Care Institute, Department of Radiology, New Belgrade, Serbia , New Belgrade (Serbia)
Type
Published Article
Journal
European Journal of Pediatrics
Publisher
Springer-Verlag
Publication Date
May 16, 2013
Volume
173
Issue
3
Pages
393–395
Identifiers
DOI: 10.1007/s00431-013-2031-6
Source
Springer Nature
Keywords
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Abstract

Budd–Chiari syndrome (BCS) is an uncommon disorder characterized by obstruction of hepatic venous outflow. The primary BCS is a rare disease with an incidence about 0.2 per million inhabitants per year. We present a 3-year-old boy with intrahepatic inferior vena cava clot. Because of decreased levels of protein C (38.7 %), F II (69.1 %), and activated protein C resistance (1.43), a mutational gene analysis was performed. The patient was found to be homozygous for the FV G1691A mutation. Conclusion: The primary BCS is a rare disease especially in childhood. Activated protein C resistance caused by the factor V Leiden mutation may be responsible for primary BCS. Prompt recognition of underlying prothrombotic disease and early initiation of their specific therapy might translate into rapid improvement of liver disease.

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