An 11-Month-Old Boy With Chronic Diarrhea, Failure to Thrive, and Hepatomegaly

Steven Liu, MD; Jonathan E. Markowitz, MD, MSCE; Petar Mamula, MDSeries Editors: David A. Piccoli, MD; Petar Mamula, MD


September 12, 2007

Establishing the Diagnosis

The patient underwent a sweat chloride test to rule out cystic fibrosis; results revealed a normal sweat chloride concentration. A bone marrow aspirate showed myeloid asynchrony not diagnostic of a specific pathologic entity, but possibly consistent with a bone marrow failure syndrome such as cyclic neutropenia or Shwachman-Diamond syndrome. Genetic testing demonstrated 2 mutations in the SBDS (Shwachman-Bodian-Diamond syndrome) gene consistent with the diagnosis of Shwachman-Diamond syndrome.

The patient was started on pancreatic enzyme supplementation and was changed to a formula with a higher caloric concentration. He demonstrated good weight gain before being discharged.


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