DDSEP® 8 Quick Quiz

August 2015 Quiz 1

Publish date: August 21, 2015

A 4-month-old boy is brought in to see you for poor weight gain and frequent bowel movements. He has been fed exclusively a soy protein infant formula since birth and his reported oral intake is quite adequate. His pediatrician performed screening lab work and found the baby's hemoglobin is 9.3 g/dL, serum albumin is 2.9 g/dL, and the ALT is 153 IU/L. Family history shows that the patient has a 2-year-old brother and a 4-year-old sister, who are both healthy. The brother, however, had "feeding intolerances" as a baby, and many formulas had to be changed, until he did well on a casein hydrolysate formula. On physical examination, the patient appears malnourished but not dehydrated; eyelids are mildly edematous; abdomen is distended and full. The stool is heme-occult negative.


 

References

ANSWER: D

Critique

Cystic fibrosis (CF) is the correct diagnosis here even in the absence of respiratory symptoms; failure to thrive with malabsorption, elevated liver chemistries, and protein malnutrition (low serum albumin) are all suggestive of CF. Additionally, profound hypoalbuminemia and anemia have been reported with the use of soy protein-based formulas in infants with CF. Although celiac disease can have a very early onset, this may obviously only follow ingestion of gluten, so it is not a diagnostic possibility in the case of this formula-fed child. Poor feeding technique is a cause of failure to thrive in early infancy, but here we have good oral intake also suggesting an absorption issue. Giardiasis may have caused this child's symptoms, as this parasitic infection may result in malabsorption, but at this early age this is a highly unlikely explanation, especially in developed countries. Milk protein allergy-induced enteropathy is also possible in this case but is less likely with heme-negative stool and elevated liver chemistries.

Reference

1. Messick, J. A 21st century approach to cystic fibrosis: optimizing outcomes across the disease spectrum. J. Pediatr. Gastroenterol. Nutr. 2010;51(Suppl 7):S1-7.

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