Combined Congenital Deficiency of Factor V and Factor VIII

Domenico Mazzone, Antonio Fichera, Giuseppe Praticò, Francesco Sciacca, 2nd Pediatric Clinic, University of Catania, Viale A. Doria 6, I-95100 Catania (Italy) The combined congenital deficiency of factors V and VIII is an interesting and rare syndrome which, to our knowledge, has never been described in childhood. We would like to report a newborn infant, born to consanguineous parents, with this combined defect. Case Report Z.G. was born spontaneously at the 38th week of gestation. After delivery he presented serious bleeding manifestations and even after having received several transfusions of fresh plasma he did not improve. Development of hydrocephalus, following purulent meningitis, required shunt procedure. He died at 2 months because of respiratory complications. The laboratory findings revealed very low levels of both factors V and VIII (factor V, 4%; factor VIII, 100/o), prolonged prothrombin and partial thromboplastin times; factor VIII R:Ag was 100%. Routine laboratory tests were normal, split fibrin products absent. The coagulation study of the patient’s relatives showed in the