Anemia de Blackfan-Diamond: A propósito de un caso

Introduction: anemia is a frequent pathology in children; among the congenital marrow insufficiency syndromes (CMIS), we can find the Pure Aplasia of precursors eritroids. Objective: consider CMIS in a new born with severe anemia. Patient and Method: a three year old child with severe anemia, who after 48 hours of life receives a blood transfusion which has to be repeated after seven days and one month later. He presents a negative viral serology. Through optic microscopy, hemolitic anemia with esferocites predominance and remarked reticulouscitopenia is observed. He requires multi-transfusions during the first four months of life and as he does not respond to therapy with oral iron, a multibiopsy of the marrow is performed, with a diagnosis of Pure Eritroid Aplasia, without congenital malformation. He partially responds to corticoid therapy and he receives monthly transfusions. He is now one year old and he is in need of a histo-identic donor. Conclusion: consider CMIS before a new born with severe anemia.