RESUMEN
A child with familial hemophagocytic lymphohistiocytosis (HLH) underwent allogeneic bone marrow transplantation (BMT) at age 5 months. At that time he showed delayed psychomotor development, and computed tomography revealed diffuse calcification. After BMT, a gradual neurodevelopmental normalization was observed. The potential ability of BMT to reverse neurodevelopmental deterioration in HLH should be considered.
Asunto(s)
Trasplante de Médula Ósea , Histiocitosis de Células no Langerhans/terapia , Encéfalo/patología , Calcinosis/diagnóstico , Histiocitosis de Células no Langerhans/genética , Histiocitosis de Células no Langerhans/patología , Humanos , Lactante , Imagen por Resonancia Magnética , MasculinoRESUMEN
Congenital dyserythropoietic anemia type I is a rare inherited bone marrow disorder characterised by macrocytic anemia with pathognomonic morphological ultrastructural features in erythroid precursors. The disease is usually not diagnosed in the neonatal period. In a retrospective study of 31 patients we found that 17 were first seen in the neonatal age with significant anemia (birth hematocrit 0.34 +/- 0.07); 14 of the 17 infants also had early jaundice. Six infants were small for gestational age and two had syndactyly. Although rare, congenital dyserythropoietic anemia type I should be considered in the differential diagnosis of neonatal anemia.