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

Further Work-up

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).

(Enlarge Image)

Increased pancreas echogenicity secondary to fatty infiltration.

Which of the following condition(s) is associated with pancreatic insufficiency and neutropenia?

Cystic fibrosis
Shwachman-Diamond syndrome
Pearson's marrow-pancreas syndrome
Johansson-Blizzard syndrome
Jeune syndrome

View the correct answer.

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Cite this: An 11-Month-Old Boy With Chronic Diarrhea, Failure to Thrive, and Hepatomegaly - Medscape - Sep 12, 2007.

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