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‡,§

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Abstract

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 © 2012 by Lippincott Williams & Wilkins

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