[Refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. Study of a new case].
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.
D000756:Anemia, Sideroblastic / Q000151:congenital*; D001855:Bone Marrow Diseases / Q000151:congenital* / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010182:Pancreatic Diseases / Q000151:congenital*; D013577:Syndrome
Anémie réfractaire sidéroblastique avec vacuolisation des précurseurs médullaires et déficit de la fonction exocrine du pancréas. Etude d'une nouvelle observation.