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A Case of Shwachman-Diamond Syndrome

Korean Journal of Pediatrics 2004;47(8):900-903.
Published online August 15, 2004.
A Case of Shwachman-Diamond Syndrome
Jeong Won Kwak1, Suk Kim2, Young Tak Lim1
1Departments of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea
2Departments of Radiology, College of Medicine, Pusan National University, Pusan, Korea
Shwachman-Diamond 증후군 1례
곽정원1, 김석2, 임영탁1
1부산대학교 의과대학 소아과학교실
2부산대학교 의과대학 진단방사선과학교실
Young Tak Lim, Email: limyt@pusan.ac.kr
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.
Key Words: Shwachman-Diamond syndrome, Bone marrow disease

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