Aplasia medular congénita de serie roja: Anemia de Diamond Blackfan. A propósito de un caso

Abstract

Pure red cell aplasia medullary is a disorder characterized by anemia with almost complete absence of red cell precursors in the bone marrow, with leukocyte count and platelets. The Diamond-Blackfan anemia is a failure syndrome characterized by bone marrow anemia, reticulocytopenia and decreased erythroid precursors in the bone marrow. the case of an infant under 2 months of age presented no family or perinatal history major, whose mother progressive skin pallor evidence mucosa associated with hyporexia; go to health center where they perform paraclinical reporting hemoglobin 1.7 g / dL. peripheral blood smear where erythroid frankly affected with normal megakaryocytic granulocytic count shown is made; It biopsied and bone marrow aspirate concluding marrow red cell aplasia; possible anemia Diamond-Blackfan in light of other clinical findings arises. It stays with glucocorticoid treatment, however insufficient response, begins erythropoietin dose progressively increasing, despite it, warrants blood transfusions on a regular basis; compatibility studies performed with first-degree resulting positive, currently a candidate for allogeneic bone marrow transplantation. It is concluded that despite being a rare syndrome should be suspected in severe anemia where there is acute blood loss, ruling out other etiologies; also timely initiation of treatment is critical to the survival of these patients.

Keywords

• marrow red cell aplasia
• diamond-blackfan anemia
• severe anemia
• bone marrow aplasia congenital