Late presentation of Shwachman's syndrome

Shwachman's syndrome is a rare cause of pancreatic exocrine insufficiency in childhood. It is usually associated with poor growth, neutropaenia and dyschondroplasia of bone metaphyses. Numerous associated congenital abnormalities and hereditary conditions have been described. The vast majority of cases are diagnosed before the age of two. The case described is of a girl presenting with steatorrhoea at age fourteen. Although of small stature, she had been completely well until that time. While survival of infantile cases into adolescence is reported, presentation of the condition in later years is rare and Shwachman's syndrome should therefore be considered as a possible cause of pancreatic insufficiency in older children and adolescents.