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Revista Cubana de Hematología, Inmunología y Hemoterapia
versión impresa ISSN 0864-0289versión On-line ISSN 1561-2996
Resumen
ROQUE GARCIA, Wilfredo et al. Congenital acute myeloid leukemia with thymic aplasia. Rev Cubana Hematol Inmunol Hemoter [online]. 2015, vol.31, n.1, pp.79-85. ISSN 0864-0289.
Congenital leukemia is a rare disease in which a leukemic process is presented at birth or during the first 30 days of life. Less than 1 % of childhood leukemia is diagnosed in newborns. The severe hypoplasia or total thymic aplasia is seen at Di George syndrome which includes several birth defects and immune deficit, mainly of T cells by thymic hypoplasia; nevertheless, severe thymic hypoplasia can be observed in patients without diagnosis of Di George. We report a case of congenital acute myeloid leukemia who presented intense paleness generalized petechiae and ecchymoses as well as hepatosplenomegaly. The diagnosis was confirmed by the presence of blasts in peripheral blood smear and bone marrow aspirate. Immunophenotyping was performed and contributed to a definitive diagnosis. The autopsy confirmed the thymic aplasia.
Palabras clave : congenital leukemia; aplasia of thymus; Di George syndrome.