| 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 |
Correspondence:
Young Tak Lim, Email: limyt@pusan.ac.kr
|
|
|
|
|
| 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. |
| Key Words:
Shwachman-Diamond syndrome, Bone marrow disease |
|
PDF Links
Download Citation
