Severe congenital factor X deficiency with intracranial bleeding in two siblings.
Congenital factor X deficiency is a rare autosomal recessive disorder that usually presents with variable bleeding tendency, prolonged prothrombin time and partial thromboplastin time. Therefore, it may be misdiagnosed as hemorrhagic disease of the newborn. Factor X level should be investigated for the definite diagnosis. We first report a new family whose two infants presented with severe intracranial bleeding at different times and were found to have congenital factor X deficiency. Plasma replacement therapy was not found to be efficacious in these infants. In conclusion, a possible factor X deficiency should be considered when a newborn presents with intracranial bleeding.
Ermis
Bahri
B
Department of Pediatrics, Atatürk University Faculty of Medicine, Erzurum, Turkey.
Ors
Rahmi
R
Tastekin
Ayhan
A
Orhan
Fatih
F
D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D001929:Brain Edema / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology; D003951:Diagnostic Errors / Q000517:prevention & control*; D005170:Factor X / Q000378:metabolism; D005171:Factor X Deficiency / Q000150:complications* / Q000151:congenital / Q000175:diagnosis*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages / Q000175:diagnosis* / Q000209:etiology* / Q000503:physiopathology; D008297:Male; D010951:Plasma Exchange; D035781:Siblings; D014057:Tomography, X-Ray Computed; D017211:Treatment Failure
D005170:Factor X