[Combination of a Shwachman syndrome and a complex granulocyte function disorder in a girl]

We report the case of a 1-year-old girl with the typical symptoms of Shwachman syndrome: neutropenia, insufficiency of the exocrine pancreas, and metaphyseal dysostosis. The clinical course is complicated by recurrent infections caused by the neutropenia and an additional defect of granulocyte function. We demonstrate a severe defect of chemotactic activity as well as a disturbance of the intracellular oxidative metabolism leading to defective killing of Staphylococcus aureus and Candida albicans.