Skip Navigation LinksHome > August 2013 - Volume 35 - Issue 6 > Shwachman-Diamond Syndrome: Diarrhea, no Longer Required?
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e3182667c13
Clinical and Laboratory Observations

Shwachman-Diamond Syndrome: Diarrhea, no Longer Required?

Andolina, Jeffrey R. MD, MS; Morrison, Colleen B. MD; Thompson, Alexis A. MD, MPH; Chaudhury, Sonali MD; Mack, A. Kyle MD; Proytcheva, Maria MD; Corey, Seth J. MD, MPH

Collapse Box


Exocrine pancreatic insufficiency and diarrhea have been hallmarks in the diagnosis of Shwachman-Diamond syndrome (SDS). We report 2 cases of genetically confirmed SDS in patients who presented with an unusual phenotype. Patient #1 presented with pancytopenia without other system involvement, while patient #2 presented with severe neutropenia, anemia, and a bifid thumb. Neither patient had diarrhea or malabsorption. Both patients had the classic heterozygous mutations c183_184 TA>CT and c.258+2 T>C in the Shwachman-Bodian-Diamond syndrome gene. Incomplete phenotypes may be more common than previously recognized in bone marrow failure syndromes; gastrointestinal symptoms should not be considered a prerequisite for SDS.

Copyright © 2013 Wolters Kluwer Health, Inc. All rights reserved.


Article Tools


Article Level Metrics

Search for Similar Articles
You may search for similar articles that contain these same keywords or you may modify the keyword list to augment your search.

Connect With Us


For additional oncology content, visit LWW Oncology Journals on Facebook.