[Refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. Study...

The case of an infant with bone marrow dysfunction and exocrine pancreatic deficiency is reported. Bone marrow dysfunction presented at birth, with a refractory sideroblastic anemia later associated with neutropenia and thrombocytopenia. Erythroid and myeloid precursors had a marked cytoplasm vacuolization and very poor in vitro growth. The exocrine pancreatic deficiency was shown by the pancreozymin-secretin stimulation test and by the study of fat digestion. This case report is different from Shwachman's syndrome, but similar to a syndrome of unknown etiology, recently described by Pearson in 4 children. The normality of immune investigations and of the culture of T lymphocyte precursors, in our patient, shows that the bone marrow dysfunction spares the lymphoid lineage. The simultaneous occurrence of bone marrow and pancreatic cells dysfunction suggests either a process acquired during embryonic life, or a gene mutation with pleiotropic effects.