A male infant was born at 39 weeks gestation to a 28 year old G1P0>1. Mother reported no significant medical history and initially no significant family history. Labor was complicated by prolonged rupture of membrane (ROM) and failure to progress. Delivery was via Cesarean section without use of forceps. Vitamin K was administered. After delivery, infant had a temperature of 101.2 F. Due to prolonged ROM, a CBC was drawn; WBC 25,900/mm3, 9% bands, 68% PMNs, platelets 240 000/mm3, hematocrit 60.2%. Infant was well appearing and antibiotics were deferred. Physical exam on DOL 2 showed a large cephalohematoma of the right frontoparietal region. On DOL3, there was concern for pallor, poor feeding, and decreased activity. Repeat blood work revealed hematocrit had fallen to 24.3%. Coagulation studies were remarkable for PTT 145 s (24.3-33.1). Infant was transfused with packed RBCs and FFP. Upon further questioning, it was discovered that the maternal great-grandmother had had a male child with factor VIII deficiency (hemophilia A). Initial factor VIII (FVIII) level was 4.1% (50-200) after receiving FFP. Patient was given recombinant factor VIII, however, follow-up level remained low (6.3%) and did not rise to calculated levels. This poor response raised question of whether patient had an inhibitor to FVIII or von Willebrand Disease Type III or 2N. Decision was made to initiate Antihemophilic Factor (Human) and von Willebrand Factor (VWF). With this therapy, factor VIII began to rise, PTT began to normalize, hemoglobin stabilized, and hematoma began to regress. At 1 month follow-up, the cephalohematoma was resolving. Factor VIII level measured < 1%, consistent with severe hemophilia. Molecular genetic testing returned positive for a deletion in F8 gene associated with Hemophilia A. No evidence of an inhibitor was found and vE studies were normal. Discussion Mild trauma sustained by neonates during delivery is not uncommon. Cephalohematomas are routinely noted in newborns and can be associated with forceps, vacuum assisted delivery, and prolonged labor. The risk for cephalohematoma increases in infants with hemophilia and can be life-threatening. Previous studies have reported an incidence of head bleeds (intra- and extra-cranial) in neonates with hemophilia ranging from 3.5-10.2% varying depending on gestational age. Maternal awareness of hemophilia status and mild hemophilia (FVIII 6-49%) have been associated with decreased risk of neonatal bleeding. Hemophilia may be suspected if there is a family history of the condition or if lab testing reveals abnormal coagulation screening. Management of hemophilic bleeding in newborns involves administering missing factor, either in the form of blood products (FFP, cryoprecipitate) or with recombinant factor. This case illustrates the importance of re-asking family history when new clinical information is available and of the prompt evaluation of severe bleeding without a clear explanation.

Response of partial thromboplastin time and Factor VIII levels after administration of fresh frozen plasma, recombinant factor VIII, and human antihemolytic factor.

MN: midnight, PTT: partial thromboplastin time, VIII: factor VIII, FFP: fresh frozen plasma, rVIII: recombinant factor VIII, HAF: human antihemolytic factor (FVIII/vWF replacement).

Response of partial thromboplastin time and Factor VIII levels after administration of fresh frozen plasma, recombinant factor VIII, and human antihemolytic factor.

MN: midnight, PTT: partial thromboplastin time, VIII: factor VIII, FFP: fresh frozen plasma, rVIII: recombinant factor VIII, HAF: human antihemolytic factor (FVIII/vWF replacement).

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