Hemophilia in the newborn without family history: Pattern of clinical presentation of three patients

Abstract

Introduction. Hemophilia is the most frequently diagnosed inborn clotting factor deficiency in the newborn. In about half of the cases diagnosis is made during neonatal period. However, due to different clinical presentation comparing to older children, hemophilia in the newborn could be misdiagnosed, especially in the setting of negative family history. Case report. Clinical features of three newborns with negative family history for hemophilia are described. All three newborns were the first born children with uneventful perinatal history, and they were referred for investigation of convulsions, soft tissue tumorous mass and sepsis, respectively. Prompt diagnosis of underlying bleeding disorder and adequate substitution therapy lead to the good outcome in all three boys. Conclusion. Symptoms and signs of hemophilia in the newborn could be at time misleading and contribute to delayed treatment. High index of suspicion on inherited bleeding disorder is warranted in every neonate with intracranial bleeding.Uvod. Hemofilija je najcesci urodjeni poremecaj koagulacije. Kod oko polovine bolesnika dijagnoza se postavlja u uzrastu novorodjenceta. Nacin ispoljavanja hemoragijske dijateze u prvim nedeljama zivota razlikuje se od dece starijeg uzrasta i moze da bude razlog za odlozeno postavljnje dijagnoze, posebno kod bolesnika sa negativnom porodicnom anamnezom. Prikaz slucaja. Opisani su klinicka slika i tok bolesti kod tri novorodjenceta sa hemofilijom i negativnom porodicnom anamnezom. Sva tri bolesnika su prvorodjena deca sa normalnom perinatalnom anamnezom koja su upucena na ispitivanje zbog konvulzija, mekotikvne mase koja je imponovala kao tumor i sepse. Pravovremena dijagnoza hemofilije kod ova tri bolesnika omogucila je adekvatnu suspstitucionu terapiju, sto je dovelo do povoljnog ishoda lecenja. Zakljucak. Simptomi i znaci hemofilje kod novorodjenceta su ponekada nespecificni i mogu da budu razlog za odlozenu primenu adekvatne terapije. Narocito je znacajna pravovremena dijagnostika urodjenih poremecaja hemostaze kod novorodjenceta sa intrakranijalnim krvarenjem.