Association of pancreatic insufficiency and chronic neutropenia in childhood.

Abstract

In childhood, pancreatic exocrine insufficiency is rarely encountered except as one of the features of cystic fibrosis, which is in contrast to the pattern of pancreatic disease in adults, where pancreatitis is common. However, paediatricians recognize that some children with symptoms of pancreatic insufficiency do not have the chronic chest infection and raised levels of electrolytes in the sweat characteristic of cystic fibrosis. Recently Bodian, Sheldon, and Lightwood (1964) have described congenital hypoplasia of the exocrine pancreas in 2 such children. Variable neutropenia and thrombocytopenic purpura occurred in both but did not receive special comment. In 1964 Shwachman, Diamond, Oski, and Khaw reported 5 similar patients, drawing particular attention to the association of haematological and pancreatic abnormalities. These reports stimulated us to review those of our patients whom we knew to have pancreatic exocrine insufficiency but not the other findings of cystic fibrosis, and those children with so-called idiopathic neutropenia. Two of us (C.M.A. and J.H.C.) had recognized as far back as 1946 one patient with both pancreatic insufficiency and chronic neutropenia, but had not pursued this association. A preliminary report of some of the findings in these patients has been published (Colebatch, Anderson, Simons, and Burke, 1965), but further patients have been encountered since that time. In all, 19 children have presented with, initially, at least one of these features, and 11 of them have now been shown to have both. Although the syndrome is rare, we consider it to be the major disorder of pancreatic exocrine function of children in whom cystic fibrosis has been excluded. Associated features are noteworthy in a number of the patients, particularly the radiological changes of metaphysial dysostosis. A familial incidence of the