RESUMEN
A new case of factor VII congenital deficiency is presented in a four year old girl, with a factor VII level of 3.9%. The patient had no history of bleeding and her coagulation disorder was a casual finding. Clinical features of the disease and its therapeutic guidelines are discussed. It seemed appropriate to continue the study in order to evaluate the factor VII capacity of inhibiting an specific antibody, to confirm heterozygosity of partents and to prove that this case is a genetic variant of factor VII deficiency with good prognosis.
Asunto(s)
Deficiencia del Factor VII/congénito , Preescolar , Deficiencia del Factor VII/genética , Femenino , Humanos , Linaje , Tiempo de Protrombina , Tiempo de Coagulación de la Sangre TotalRESUMEN
Etiological diagnosis is a very important aspect in neonatal neutropenias because of different prognosis that implies. Isoimmune neonatal neutropenia is one of these processes, with good prognosis and which is rarely diagnosed; it is due to maternal isoimmunization during pregnancy against a foetus specific neutrophil antigen, inherited from the father. Authors present a case, in which a deep neutropenia during the first fifteen days of life, was observed with high monocytosis and without other associations; baby returned to normal levels when he was three months old. Presence of an antineutrophil antibody in mother's serum, with specificity against father's and baby's granulocytes was demonstrated. Bibliography is revised and differential diagnosis and treatment is discussed.