Shwachman-diamond syndrome: Diarrhea, no longer required?

Jeffrey R. Andolina*, Colleen B. Morrison, Alexis A. Thompson, Sonali Chaudhury, A. Kyle MacK, Maria Proytcheva, Seth J. Corey

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)486-489
Number of pages4
JournalJournal of pediatric hematology/oncology
Issue number6
StatePublished - Aug 2013


  • Shwachman-Diamond syndrome
  • diarrhea
  • exocrine pancreatic insufficiency
  • neutropenia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology


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