J Korean Pediatr Soc.  1998 Dec;41(12):1726-1730.

A Case of Congenital Factor VII Deficiency Associated with Intraventricular Hemorrhage and Hydrocephalus

• Kim HJ
• Jung JH
• Lee JH
• Jo JD

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.

Keyword

Congenital factor Vll deficiency; Intraventricular hemorrhage; Hydrocephalus

MeSH Terms

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
Factor VII
Prothrombin