Shwachman's syndrome: pathomorphosis and long-term outcome.

BACKGROUND: Shwachman's syndrome is the second most common cause of inherited/congenital pancreatic insufficiency after cystic fibrosis. The main associated features are usually cyclic neutropenia, metaphyseal dysostosis, and growth retardation. Other organs or functions may be involved in this syndrome, showing a wide range of abnormalities and symptoms. There are reports of Shwachman's syndrome in childhood, but little is known about the long-term clinical course of these patients. This article reports on the pathomorphosis and long-term follow-up of 13 patients with Shwachman's syndrome diagnosed in infancy focusing, in particular, on modifications of the exocrine pancreatic function over time.

METHODS: Exocrine pancreatic function was evaluated by duodenal intubation followed by a pancreatic stimulation test. Nutritional, biochemical, hematologic, radiologic, and psychological evaluations were performed at various intervals. Six patients were included in long-term follow-up evaluation.

RESULTS: At diagnosis, growth retardation was present in all patients, and all subjects showed pancreatic insufficiency. Hematologic features (intermittent neutropenia, anemia and thrombocytopenia), respiratory infection during the first years of life, and skeletal abnormalities were also frequently observed. Other associated features at diagnosis included hepatic involvement and occasional renal dysfunction. In the six patients followed up, a significant growth improvement was observed. In five of them the pancreatic stimulation test showed values of lipase within reference range outputs, whereas fat balance or fecal fat losses were normal in all but one subject. Of seven subjects assessed by psychological evaluation, IQ test results were markedly abnormal in one and bordered on abnormality in the others.

CONCLUSIONS: The present data on Shwachman's syndrome diagnosed in infancy underline the possibility of improvement or normalization of exocrine pancreatic function with age, suggesting the need for periodic checks on pancreatic activity in these subjects. It also indicates the possibility of diagnosis of this syndrome in the absence of pancreatic insufficiency; decreasing frequency of infections over time; and the usefulness of early neuropsychological evaluation.