A newborn baby presented with profuse bleeding from umbilical stump after bih. What is the MOST probable diagnosis?
Correct Answer: Factor XIII deficiency
Description: This neonate is most probably suffering from factor XIII deficiency. Umbilical stump bleeding is a common feature of factor XIII deficiency. Patients usually have severe bleeding manifestations and hemorrhage can occur into any tissue. Factor XIII deficiency is caused by a defect in plasma transglutaminase that covalently cross links the fibrin alpha and gamma chains to form an impermeable fibrin clot. Screening test for clotting functions are normal in this disorder. Treatment is with cryoprecipitate. Ref: Molecular Pathology of Hematolymphoid Diseases edited by Cherie H. Dunphy page 516.
Category:
Pediatrics
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