Diamond-Blackfan syndrome in adult patients

Abstract

Two adults with pure red cell aplasia are described. No extrinsic etiologic mechanisms were identified. Evidence of anemia was long-standing and varied in severity. Musculoskeletal abnormalities (webbed neck, Sprengel's and Klippel-Feil deformities, and hand abnormalities) were similar to those seen in the congenital form of red cell aplasia (Diamond-Blackfan syndrome). As in the congenital variety, adrenal cortical steroids resulted in hematologic repair. These observations suggest that congenital (Diamond-Blackfan) pure red cell aplasia may be first recognized in adulthood and that steroids provide a potential therapeutic modality.