Intracranial Hemorrhage as the First Manifestation of Severe Congenital Factor X Deficiency in a 20-Month-Old Male: Case Report and Review of the Literature

Pediatr Blood Cancer. 2016 Jul;63(7):1300-4. doi: 10.1002/pbc.25966. Epub 2016 Apr 21.

Abstract

Factor X deficiency (FXD) is a rare bleeding disorder, which can result in severe bleeding symptoms such as intracranial hemorrhage (ICH). The most common bleeding symptoms are epistaxis and gum bleeding. ICH is reported in 9-26% of all patients with FXD, mostly during the first month of life. Here, we present a rare case of a male presenting with ICH at the age of 20 months as the first manifestation of FXD. Secondary prophylaxis with factor X substitution once weekly prevented further bleeding.

Keywords: FX deficiency; bleeding tendency; missense mutation; prophylaxis; replacement therapy.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Factor X / administration & dosage*
  • Factor X Deficiency* / complications
  • Factor X Deficiency* / diagnosis
  • Factor X Deficiency* / drug therapy
  • Factor X Deficiency* / pathology
  • Humans
  • Infant
  • Intracranial Hemorrhages* / diagnosis
  • Intracranial Hemorrhages* / etiology
  • Intracranial Hemorrhages* / pathology
  • Intracranial Hemorrhages* / prevention & control
  • Male

Substances

  • Factor X