Shwachman-Bodian-Diamond syndrome: A Case report?

Abstract Shwachman-Bodian-Diamond syndrome is a multisystem, autosomal recessive disorder and presents in infancy or early childhood with failure to thrive, steatorrhea, recurrent infections, persistent or intermittent cytopenias, and/or growth retardation. We report a 9½ years old child who presented with uncontrolled asthma, allergic-rhinitis, growth retardation and recurrent infections, and initially did not present with a typical history of steatorrhea and other hematological abnormalities. Diagnosis may be delayed if signs of pancreatic insufficiency and cytopenias are not the presenting features.