Severe congenital dysfibrinogenemia (fibrinogen-Riyadh): a family study.
Congenital severe dysfibrinogenemia was discovered in a small Saudi family. Their single child exhibited abnormal severe bleeding tendency since birth and his coagulation profile revealed evidence of severe dysfibrinogenemia. The parents who were first-degree cousins and completely asymptomatic showed evidence of dysfibrinogenemia but to lesser degree than in their son. The child presented with large cephalohematoma and evidence of intracranial hemorrhage and left hemiparesis. He was treated with cryoprecipitate and his hematoma resolved, but his neurological deficit remained.
al-Fawaz
I M
IM
Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Gader
A M
AM
D000208:Acute Disease; D000347:Afibrinogenemia / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D001780:Blood Coagulation Tests; D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D015241:Fibrinogens, Abnormal / Q000032:analysis*; D006406:Hematoma / Q000000981:diagnostic imaging / Q000209:etiology; D006408:Hematoma, Subdural / Q000000981:diagnostic imaging / Q000209:etiology; D006801:Humans; D008297:Male; D012529:Saudi Arabia; D012886:Skull; D014057:Tomography, X-Ray Computed
D015241:Fibrinogens, Abnormal