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  • Title: [Refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. Study of a new case].
    Author: Demeocq F, Storme B, Schaison G, Bezou MJ, Bourges M, Chassagne J.
    Journal: Arch Fr Pediatr; 1983 Oct; 40(8):631-5. PubMed ID: 6651452.
    Abstract:
    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.
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