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

Differential Diagnosis

The low stool pancreatic elastase level is consistent with severe exocrine pancreatic insufficiency. Cystic fibrosis, the most common cause of pancreatic insufficiency in children, should be strongly considered, especially in light of a past medical history of pneumonia. As noted earlier, the patient was also found to be neutropenic (absolute neutrophil count of 627 cells/mcL), which could be associated with Shwachman-Diamond syndrome. Patients with Pearson's marrow-pancreas syndrome can also have bone marrow failure, hepatomegaly, and exocrine pancreatic insufficiency. Other less common causes of pancreatic insufficiency include Johansson-Blizzard syndrome and Jeune syndrome. The patient's kidney stones are likely related to his fat malabsorption, because the fat binds to calcium in the gastrointestinal tract, increasing the free oxalate to be absorbed. The increased oxalate can be deposited in the kidney to form stones.


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