Severe hemophilia A presenting as cerebellar hemorrhage at delivery

Abstract

Hemophilia is the most frequent disease among congenital coagulation disorders, but distinct guidelines for delivery in hemophilia carriers have not been established. We report the case of a neonate presenting with cerebellar hemorrhage induced by stress during vaginal delivery. The mother’s brother has severe hemophilia A, with confirmed inversion of intron 22 of the factor VIII gene. The grandmother and mother were definitive carriers. The subject was identified as a boy by fetal ultrasound; therefore, vacuum extraction was prohibited. He was born by full-term normal vaginal delivery. No subcutaneous hemorrhage was observed, and brain ultrasonography findings were normal. However, enlargement of the bilateral ventricles was confirmed by ultrasonography 19 h after birth, and CT revealed a 40×30 mm² hematoma in his right cerebellar hemisphere. He was conservatively treated with a factor VIII concentrate. No further enlargement of the hematoma occurred and it was gradually absorbed. Currently, he is 2 years old and has no neurological deficits.