A Case of Shwachman-Diamond Syndrome.
- Author:
Jeong Won KWAK
1
;
Suk KIM
;
Young Tak LIM
Author Information
1. Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea. limyt@pusan.ac.kr
- Publication Type:Case Report
- Keywords:
Shwachman-Diamond syndrome;
Bone marrow disease
- MeSH:
Bone Marrow;
Bone Marrow Diseases;
Child;
Exocrine Pancreatic Insufficiency;
Failure to Thrive;
Humans;
Leukemia;
Male;
Myelodysplastic Syndromes;
Neutropenia
- From:Korean Journal of Pediatrics
2004;47(8):900-903
- CountryRepublic of Korea
- Language:Korean
-
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.
