DOI: 10.36347/sjmcr.2019.v07i01.003

Pages: 8-11

Introduction: congenital afibrinogenemia is a rare autosomal recessive disease caused by markedly reduced or absent synthesis of fibrinogen. Consanguinity is common in affected family. Clinical manifestations range to minimal or moderate bleeding to catastrophic haemorrhage. Case presentation: We report a case of a female child, 07 months of age, Admitted to emergencies for ecchymosis and repetitive bleeding at vaccine injections sites. Biologic exploration found congenital afibrinogenemia. Conclusion: Congenital afibrinogenemia is a rare disease, which can be revealed at the neonatal stage when the umbilical cord is dropped. Its diagnosis is based on a balance of haemostasis disrupted with a normal level of coagulation factors, besides fibrinogen which is indosable. Prenatal diagnosis is currently possible by the molecular diagnosis. Gene therapy is a therapeutic approach for the future.