A Case of Shwachman-Diamond Syndrome / 소아과
Korean Journal of Pediatrics
; : 900-903, 2004.
Article
in Ko
| WPRIM
| ID: wpr-148788
Responsible library:
WPRO
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
Full text:
1
Index:
WPRIM
Main subject:
Exocrine Pancreatic Insufficiency
/
Bone Marrow
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Bone Marrow Diseases
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Myelodysplastic Syndromes
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Leukemia
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Failure to Thrive
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Neutropenia
Limits:
Child
/
Humans
/
Male
Language:
Ko
Journal:
Korean Journal of Pediatrics
Year:
2004
Type:
Article