A boy highly suspected of Shwachman syndrome

Abstract

We encountered a boy highly suspected of Shwachman syndrome. The affected child presented a mild disturbance of the extrapancreatic secretory function followed by a marked decrease in the number of peripheral blood neutrophils and contracted respiratory infections repeatedly. The neutrophilic function of the affected child showed the disturbance of motility both in vivo and in vitro. So the impairment of the neutrophil itself was considered accountable for it. After admission, he contracted a variety of viral infections and then showed an increase in the number of peripheral blood neutrophils. Furthermore, the disturbance of the extrapancreatic secretory function is also improved slowly. Shwachman syndrome is a rare disease in Japan. From the clinical course of this case, it may be reasonable to infer that there are various variant types in Japan. © 1998, The Japan Society for Clinical Immunology. All rights reserved.