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.
*Department of Pediatrics, Golisano Children’s Hospital, University of Rochester Medical Center, Rochester, NY
†Department of Pediatrics, Memorial Children’s Hospital, South Bend, IN
‡Department of Pediatrics
∥Department of Pathology, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University
§Feinberg School of Medicine, Lurie Comprehensive Cancer Center, Chicago, IL
The authors declare no conflict of interest.
Supported by Grant R01CA108922 and J.P. McCarthy Foundation to S.J.C. and T32 CA079447 to J.R.A.
Reprints: Jeffrey R. Andolina, MD, MS, 601 Elmwood Ave, P.O. Box 777, Rochester, NY 14642 (e-mail: firstname.lastname@example.org).
Received January 17, 2012
Accepted June 25, 2012