Shwachman-Diamond Syndrome: Diarrhea, no Longer Required?

Andolina, J. R.; Morrison, C. B.; Thompson, A. A.; Chaudhury, S.; Mack, A. K.; Proytcheva, M.; Corey, S. J.

J Pediatr Hematol Oncol. 2012 Sep 1; 35(6):486-9


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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