Lessons from a neonate with unusual bleeding

Healthy, term neonates rarely encounter problems with bleeding, despite physiological differences in their levels of clotting factors, reflected in prolongation of the prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time (TT). Their risk of bleeding, however, is significantly increased by the presence of a severe congenital bleeding disorder. Establishing such a diagnosis can present a particular challenge, given the rarity of these conditions and the difficulty in performing and interpreting laboratory assays in this age group. However, a delay in diagnosis and implementation of appropriate treatment can result in catastrophic sequelae. Therefore, the presentation of a healthy child at birth, whose condition rapidly deteriorates as a result of bleeding, should prompt the urgent investigation of a congenital haemostatic defect and involvement of expert haematological advice. We describe a very unusual presentation of a severe bleeding disorder in the first few days of life to highlight these issues.