Shwachman-Diamond syndrome1- 4 is the second most common cause of pancreatic insufficiency in early life after cystic fibrosis. Pancreatic exocrine insufficiency is accompanied by growth retardation, bone marrow dysfunction with neutropenia, and skeletal changes, predominantly metaphyseal dysostosis. Sweat chloride test findings are normal. Cases have been associated with anal atresia,4,5 Hirschsprung disease,6 and asphyxiating thoracic dystrophy.7 The bone marrow dysfunction is associated with the eventual appearance in some cases of leukemia, usually nonlymphocytic.8- 10 Cases have been reported in which the clinical onset of pancreatic insufficiency occurred soon after birth2,7 and includes malabsorption, steatorrhea, and failure to thrive. More than 25 families had at least 2 affected children, and the inheritance is presumed to be autosomal recessive. Many patients develop anemia (15%) or thrombocytopenia (7%) or both (20%). Occasionally, anemia and thrombocytopenia precede neutropenia. In this condition the neutrophils may not be totally normal. There may be a defect in neutrophil mobility, which may explain infection even when the neutrophil count is not extremely low. Histopathologic analysis reveals the bulk of the pancreas to be replaced by fatty tissue.3 Pancreatic ducts and endocrine elements are preserved.11 Usually the acinar is absent,11 but occasionally some acinar cells are present and are large and devoid of secretary granules.1 Occasionally, atrophic acinar tissue is seen with pink cytoplasm and pyknotic nuclei.