Congenital factor X (FX) deficiency is an exceedingly rare hemorrhagic condition. Severe deficiency frequently manifests in early life and can lead to life-threatening hemorrhagic consequences, such as intracranial hemorrhage. Because of its infrequency and vague initial symptoms, early diagnosis is challenging. We report a case of a full-term female neonate who presented with persistent umbilical stump bleeding and progressive scalp swelling. Labs were consistent with hypocoagulability. Imaging of the head revealed a large subgaleal, subdural, and cerebellar hematomas. Coagulation factor measurement confirmed a severe congenital FX deficiency. The patient received vitamin K, fresh frozen plasma (FFP), blood transfusion, and was referred for management with replacement therapy. The patient was discharged in stable condition. Early neonatal bleeding, including umbilical and subgaleal hemorrhage, may be the initial manifestations of severe congenital FX deficiency, even in the absence of family history. Rapid diagnosis, proper replacement, and a multidisciplinary approach will ensure optimum outcomes.
Kattoush et al. (Mon,) studied this question.