Congenital dyserythropoietic anemias (CDAs) are a group of hereditary
refractory anemias characterized by ineffective erythropoiesis, typical morphological abnormalities of erythroblasts, a low or no reticulocyte response,
hyperbilirubinemia, and
splenomegaly. A massive hydropic newborn born with a very severe
anemia (Hb 4.8 g/dL), diffuse
edema, hepatosplenomegaly,
ascites,
pulmonary edema and respiratory distress, and shortness and
hallux varus deformity of the great toe of the right foot was diagnosed to have
congenital dyserythropoietic anemia on the basis of the hematological (macrocytosis, anisopoikilocytosis, fragmented red cells and erythroblastosis in the peripheral blood, and erythroid
hyperplasia with erythroblastosis and erythroblasts with double nuclei and thin
chromatin bridges connecting these nuclei in the bone marrow) and serological (negative acidified serum lysis test and no agglutination with anti-i
antibodies) findings. In this article the seventh case of neonatal
congenital dyserythropoietic anemia presenting with a very severe (lethal) form of
hydrops fetalis and a new (
hallux varus)
deformity of the great toe of the right foot is presented.
Congenital dyserythropoietic anemia should be considered in the differential diagnosis of
hydrops fetalis presenting with a very severe
anemia and a skeletal abnormality of the great toe.