title: Primary Budd-Chiari syndrome in a 3-year-old boy with homozygous factor V Leiden G1691A mutation.
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.
  
  
  CONCLUSIONS
  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.affiliation: Department of Gastroenterology and Hepatology, Mother and Child Health Care Institute, Radoja Dakica 6-8, 11070, New Belgrade, Serbia, Aleksandra.bos@hotmail.com.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Boskovic
authors.forename: Ivana
authors.initials: I
authors.lastname: Kitic
authors.forename: Ivica
authors.initials: I
authors.lastname: Stankovic
authors.forename: Dragan
authors.initials: D
authors.lastname: Prokic
authors.forename: Nada
authors.initials: N
authors.lastname: Zlatar
mesh_terms: D006502:Budd-Chiari Syndrome / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D014682:Vena Cava, Inferior / Q000473:pathology*
chemical_list: C095381:factor V Leiden; D005165:Factor V