Congenital dyserythropoietic anemia type 1 with fetal onset of severe anemia

We report a patient with congenital dyserythropoietic anemia type 1 with ch aracteristic anomalies and two novel clinicopathologic presentations: intra uterine onset of severe anemia resulting in cardiac failure and relatively mild dyserythropoietic features on bone marrow aspiration in contrast to se verity of anemia. After repeated transfusions and a trial of erythropoietin administration, the patient died from respiratory infection at age 7 month s. Autopsy revealed characteristic dyserythropoietic features of the bone m arrow by light microscopy and electron microscopy, which confirmed a diagno sis of congenital dyserythropoietic anemia type 1.