A Case of Congenital Factor VII Deficiency Associated with Intraventricular Hemorrhage and Hydrocephalus.
- Author:
Hyoung Jun KIM
1
;
Jin Hwa JUNG
;
Jeong Ho LEE
;
Jong Dae JO
Author Information
1. Department of Pediatrics, Maryknoll Hospital, Pusan, Korea.
- Publication Type:Case Report
- Keywords:
Congenital factor Vll deficiency;
Intraventricular hemorrhage;
Hydrocephalus
- MeSH:
Cerebral Hemorrhage;
Child, Preschool;
Diagnosis;
Epistaxis;
Factor VII Deficiency*;
Factor VII*;
Female;
Headache;
Hemarthrosis;
Hematoma;
Hematuria;
Hemophilia A;
Hemorrhage*;
Humans;
Hydrocephalus*;
Incidence;
Malnutrition;
Menorrhagia;
Partial Thromboplastin Time;
Penetrance;
Plasma;
Prothrombin;
Prothrombin Time;
Vomiting
- From:Journal of the Korean Pediatric Society
1998;41(12):1726-1730
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Congenital factor Vll deficiency is a rare bleeding disorder with an estimated incidence of 1 in 500,000. It is inherited as an autosomal recessive pattern with variable expression and high penetrance. In severely affected patients, repeated hemarthroses, chronic crippling hemarthropathy, and dangerous hematomas can occur. Other types of hemorrhage include epistaxis, menorrhagia, hematuria, gastrointestinal and gingival bleeding. Fetal cerebral hemorrhage has been reported, although less frequently than in severe hemophilia A or B. It is characterized by normal partial thromboplastin time and prolonged prothrombin time. Definitive diagnosis rests on a specific assay for factor Vll clotting activity. Replacement therapy is necessary to control the hemorrhage. Conventional prophylaxis and therapy in this disorder have consisted of fresh frozen plasma (FFP) or prothrombin complex concentrate. We experienced a case of intraventricular hemorrhage and hydrocephalus in a 4-year-old girl who had been diagnosed with congenital factor Vll deficiency during her neonatal period. She presented with episodes of frontal headache, frequent vomiting and malnutrition. We report this case with a brief review and related literatures.
