RESUMO

Congenital dyserythropoietic anemia (CDA) is a rare group of inherited bone marrow disorders characterized by anemia with ineffective erythropoiesis. We report 3 siblings from a family known to have CDA type I who presented with persistent pulmonary hypertension of the newborn (PPHN). We suggest that the diagnosis of CDA type I should be considered in any neonate with PPHN and anemia.

Assuntos

Anemia Diseritropoética Congênita/diagnóstico , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico , Anemia Diseritropoética Congênita/genética , Árabes , Consanguinidade , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Israel , Masculino , Linhagem , Síndrome da Persistência do Padrão de Circulação Fetal/genética

RESUMO

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.

Assuntos

Transplante de Medula Óssea , Histiocitose de Células não Langerhans/terapia , Encéfalo/patologia , Calcinose/diagnóstico , Histiocitose de Células não Langerhans/genética , Histiocitose de Células não Langerhans/patologia , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino