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Shwachman–Diamond syndrome presenting in a premature infant as pancytopenia
Author(s) -
Black L. Vandy,
Soltau Thomas,
Kelly David R.,
Berkow Roger L.
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21550
Subject(s) - medicine , pancytopenia , failure to thrive , exocrine pancreatic insufficiency , pediatrics , bone marrow failure , bone marrow , cystic fibrosis , stem cell , genetics , haematopoiesis , biology
Abstract Shwachman–Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive, and skeletal abnormalities. It is most commonly diagnosed in early childhood after the development of hematologic abnormalities. We report a premature infant born at 33 weeks gestation who was small for gestational age and displayed persistent cytopenias requiring transfusion. Genetic testing confirmed a diagnosis of Shwachman–Diamond syndrome (SDS). Pediatr Blood Cancer 2008;51:123–124. © 2008 Wiley‐Liss, Inc.