Refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. Study of a new case
Demeocq, F.; Storme, B.; Schaison, G.; Bezou, M.J.; Bourges, M.; Chassagne, J.
Archives Francaises de Pediatrie 40(8): 631-635
1983
ISSN/ISBN: 0003-9764 PMID: 6651452 Document Number: 216839
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.