Tre neonati con sindrome di Down ed alterazioni ematologiche

AUTORI

ABSTRACT

Three neonates with Down syndrome and hematological abnormalities

Three neonates with Down syndrome and hematological abnormalities. We report three cases of neonates with Down syndrome. In the first newborn, the complete blood count (CBC) showed leukocytosis (30×109/L). The presence of rare blasts, with morphological characteristics attributable to megacaryocytic blasts, were appreciated at the review of peripheral blood. In the second case the patient was hospitalized for severe anemia and neutropenia. The visual inspection of the peripheral blood smear showed the presence of rare undifferentiated blasts. The third patient was a premature neonate, with fetal hydrops. The CBC showed 172×109/L leukocytes and anemia. The peripheral blood smear showed erythroblasts and dysplastic platelets, prevalence of blasts, some of them with cytoplasmic blebs. In the all cases the diagnosis was Transient Abnormal Myelopoiesis (TAM), rather frequent in patients with Down syndrome. It is a transient syndrome characterized by the presence of megacaryoblasts in peripheral blood and mutation of the GATA1 gene. The information obtained by the visual inspection of the peripheral smears, could be important for a correct diagnosis, especially when the CBC data are not particularly abnormal

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