Since the second year of her life a now 32-year-old woman had growth retardation and recurrent diarrhoea, caused by exocrine pancreatic insufficiency. During intermittent treatment with pancreatic enzymes the diarrhoea ceased and she gained weight. In the course of the illness she had to undergo several orthopaedic operations. Radiological examinations had revealed metaphyseal dysostoses. At the age of 14 years the marked growth retardation stimulated further clinical investigation. The growth retardation, compensated exocrine pancreatic insufficiency and peripheral dysostoses established the diagnosis of Shwachman syndrome, although there was no neutropenia. The severe exocrine pancreatic insufficiency, confirmed by pancreatic function tests, was probably compensated by extrapancreatic lipases, and pancreatic enzyme substitution therefore was unnecessary.