Stool studies were negative for infectious etiologies, and testing for stool-reducing substances was negative. A celiac panel and a viral hepatitis panel were normal. Abdominal ultrasound (Figure) showed an echogenic pancreas, possibly representing fatty infiltration. The liver and biliary tree were normal-appearing, and there was nephrocalcinosis with multiple nonobstructing kidney stones. A 72-hour fecal fat collection was consistent with fat malabsorption, and the stool pancreatic elastase level was < 15 mcg/g (normal, 200-500 mcg/g). The patient was also noted to be neutropenic (absolute neutrophil count of 627 cells/mcL).
Which of the following condition(s) is associated with pancreatic insufficiency and neutropenia?
Pearson's marrow-pancreas syndrome
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Cite this: An 11-Month-Old Boy With Chronic Diarrhea, Failure to Thrive, and Hepatomegaly - Medscape - Sep 12, 2007.