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

Abstract

UNLABELLED:

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.

• Authors: Aleksandra Boskovic, Ivana Kitic, Ivica Stankovic, Dragan Prokic, Nada Zlatar
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 173 Issue 3 Pg. 393-5 (Mar 2014) ISSN: 1432-1076 [Electronic] Germany
• PMID: 23677252 (Publication Type: Case Reports, Journal Article)

Chemical References

• factor V Leiden
• Factor V

Topics

• Budd-Chiari Syndrome (diagnosis, genetics)
• Child, Preschool
• DNA Mutational Analysis
• Factor V (genetics)
• Homozygote
• Humans
• Male
• Mutation
• Vena Cava, Inferior (pathology)