Korean J Pediatr.
2004 Aug;47(8):900-903.
A Case of Shwachman-Diamond Syndrome
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea. limyt@pusan.ac.kr
- 2Department of Radiology, College of Medicine, Pusan National University, Pusan, Korea.
Abstract
- Shwachman-Diamond syndrome(SD syndrome) is a rare genetic disorder chracterized by pancreatic insufficiency, short stature, skeletal abnormalities and bone marrow dysfunction. Exocrine pancreatic insufficiency and neutropenia are the main components of the syndrome. A hallmark of SD syndrome is varying severity of pancreatic dysfunction due to acinar maldevelopment. The hematologic abnormalities associated with SD syndrome include varying cytopenias, marrow aplasia, myelodysplasia and a high risk of development of leukemia. We report a case of SD syndrome in a 10-year-old boy who presented with failure to thrive and myelodysplastic syndrome.
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