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Case Reports
. 2013 Aug;35(6):486-9.
doi: 10.1097/MPH.0b013e3182667c13.

Shwachman-Diamond syndrome: diarrhea, no longer required?

Jeffrey R Andolina  1 , Colleen B Morrison, Alexis A Thompson, Sonali Chaudhury, A Kyle Mack, Maria Proytcheva, Seth J Corey
Affiliations
Case Reports

Shwachman-Diamond syndrome: diarrhea, no longer required?

Jeffrey R Andolina et al. J Pediatr Hematol Oncol. 2013 Aug.

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.

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Figures

Figure 1
Figure 1
Absolute neutrophil counts of patient #1 from presentation through stem cell transplant.
Figure 2
Figure 2
Absolute neutrophil and monocyte counts of patient #2 from initial presentation.
See this image and copyright information in PMC

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