A novel F7 mutation (p.Gly217Arg) associated with infantile intracranial hemorrhage successfully managed with rFVIIa

Abstract

Congenital factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder, with an estimated incidence of approximately 1 in 500,000 individuals worldwide [1]. The clinical spectrum is remarkably heterogeneous, ranging from asymptomatic laboratory abnormalities to severe and life-threatening hemorrhages, such as intracranial hemorrhage (ICH) [2]. Herein, we report an infant with a novel F7 gene mutation who presented with subdural hemorrhage and was successfully managed with recombinant activated factor VII (rFVIIa).