DOI: 10.55691/2582-3868.1246 ISSN: 2582-3868

A Rare Cause of Severe Bleeding in Neonate: Congenital Afibrogenemia Case Report

Abdul Azeem Hulkoti, Qudsiya Ansari, Kailas Randad, Akash Dnyandeo Sarkate

Background- Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of fibrinogen, a critical factor for clot formation in the blood. This deficiency leads to significant bleeding tendencies from birth. Patients typically present with severe haemorrhagic symptoms early in the neonatal period. Case presentation- We describe a case of a neonate presenting with umbilical bleeding diagnosed with congenital afibrinogenemia. Initial clinical manifestations included active umbilical bleeding and pallor, while hematological workup revealed a lack of detectable fibrinogen. The diagnosis was confirmed by coagulation assays and genetic testing. The infant was managed with Fresh Frozen Plasma (FFP) transfusions, resulting in stabilization and resolution of bleeding. Conclusion- The case underscores the importance of early recognition and management of congenital afibrinogenemia to prevent life-threatening bleeding complications.