Neonatal hemophilia A: unusual clinical presentation and diagnostic challenges. Case report.

Abstract

Introduction: Neonatal hemophilia A is a rare inherited bleeding disorder whose early recognition is challenging, especially when there is no family history and the clinical presentation is atypical. Early identification is essential to prevent potentially fatal complications and optimize the neonatal prognosis. Case report: We present the case of a newborn, the product of a traumatic breech delivery, who developed severe acute anemia, extensive intramuscular hematomas in the cervico-occipital region and right thigh, as well as intraparenchymal cerebral hemorrhage. Studies confirmed the diagnosis of severe neonatal hemophilia A. The patient received transfusion support, phototherapy, multidisciplinary monitoring, and a favorable clinical course. Discussion: This case demonstrates that traumatic delivery can trigger severe bleeding manifestations in neonates with undiagnosed hemophilia A. The correlation between clinical presentation and coagulation profile allowed for timely diagnosis, avoiding invasive procedures and facilitating individualized management. It also highlights the limitations in access to specialized tests and specific therapies, a common reality in resource-limited settings. Conclusion: Severe neonatal hemophilia A should be considered in the differential diagnosis of all newborns with acute anemia, extensive hematomas, and isolated prolongation of the activated partial thromboplastin time (aPTT), especially when there is a history of traumatic delivery. Early recognition of clinical and laboratory findings allowed for timely confirmation of severe factor VIII deficiency and the implementation of multidisciplinary management. Maintaining a high index of clinical suspicion for unusual hemorrhagic manifestations in the neonatal period is essential to improve the prognosis and quality of life of these patients from the first hours of life.