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.
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.
Division of Paediatric Oncology/Haematology, University Children's Hospital Basel, Basel, Switzerland.
Tamara
T
Diesch
Division of Paediatric Oncology/Haematology, University Children's Hospital Basel, Basel, Switzerland.
Nicolas Xavier
NX
von der Weid
Division of Paediatric Oncology/Haematology, University Children's Hospital Basel, Basel, Switzerland.
Alexandra
A
Schifferli
Division of Paediatric Oncology/Haematology, University Children's Hospital Basel, Basel, Switzerland.
Thomas
T
Kühne
D005170:Factor X / Q000008:administration & dosage*; D005171:Factor X Deficiency / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000473:pathology; D006801:Humans; D007223:Infant; D020300:Intracranial Hemorrhages / Q000175:diagnosis / Q000209:etiology / Q000473:pathology / Q000517:prevention & control; D008297:Male
D005170:Factor X
FX deficiency; bleeding tendency; missense mutation; prophylaxis; replacement therapy