Abstract
Four children were studied with a severe, transfusion dependent, macrocytic anemia with onset in infancy, characterized by striking cytoplasmic vacuolization of erythroid and myeloid precursors. Marrow aspirates were normocellular to slightly hypercellular with a marked increase in iron; 3had ringed sideroblasts. Neutropenia and thrombocytopenia developed shortly after the anemia in each. Electron microscopy suggested the vacuolization represented degenerative change in dying cells. In vitro cell culture showed a decrease in CFU-C and CFU-E, with abnormal colony morphology. Therapy with multiple hematinics was without effect. There was no evidence of nutritional deficiency, toxin or drug ingestion, or of a primary disease previously associated with similar hematologic changes. All children had lab evidence of exocrine pancreatic dysfunction, while only 1 was symptomatic. In 2 children pancytopenia began spontaneous resolution by 2 years of age. The other 2 children died at 2 years of age, having severe pancreatic fibrosis and extreme splenic hypoplasia at autopsy. This differs from the Bodian-Schwachman syndrome in the predominance of anemia, precursor vacuolization, sideroblastic changes, and the degree of pancreatic fibrosis. We postulate an undefined congenital metabolic abnormality affecting a pathway common to at least hematopoietic stem cells and the exocrine pancreas.
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Lobel, J., Kocoshis, S., Krejmas, N. et al. 627 A NEW SYNDROME OF REFRACTORY SIDEROBLASTIC ANEMIA WITH VACUOLIZATION OF MARROW PRECURSORS, ASSOCIATED WITH EXOCRINE PANCREATIC INSUFFICIENCY. Pediatr Res 12 (Suppl 4), 468 (1978). https://doi.org/10.1203/00006450-197804001-00632
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DOI: https://doi.org/10.1203/00006450-197804001-00632