Abstract
Constitutional factor X deficiency accounts for 8% of all rare coagulation disorders and can lead to intracranial hemorrhage. Our aim is to highlight the importance of diagnostic, therapeutic and prophylactic management of this rare coagulation disorder. We report the case of a female neonate admitted for the management of spontaneous intracranial hemorrhage at 8 days of age. Hemostasis tests revealed a prothrombin level of 14%, a prolonged partial thromboplastin time (62.9 seconds), normal fibrinogen level and thrombin time (2.25 g/L, 16 seconds). A common pathway coagulation factor assay showed an isolated, severe factor X deficiency (<1%). This was the first child from a second-degree consanguineous marriage. The father was diagnosed with a heterozygous deficiency. The mother's hemostasis test, performed 8 days postpartum, was normal. It was not possible to check her coagulation status remotely after delivery. At the age of 2 months and 20 days, the infant was re-admitted for recurrence of intracranial hemorrhage. She underwent neurosurgical evacuation of the cerebral hematoma but died a few days later. This case illustrates the importance of a family history of factor X deficiency, as well as the seriousness of hemorrhagic signs in the course of this deficiency.
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