Chylomicron Retention Disease: Failure to Thrive and Abdominal Distention in an Infant

Abstract

This case report describes an infant with failure to thrive and progressive abdominal distention that ultimately led to a rare diagnosis of chylomicron retention disease at 1 year of life. Laboratory abnormalities included increased qualitative stool fat, along with low apolipoprotein B, high-density lipoprotein, low-density lipoprotein (LDL), and total cholesterol in blood. In chylomicron retention disease, diarrhea has been reported as the most common presenting symptom followed by failure to thrive and vomiting. Diarrhea and vomiting before 6 months of life have been described in cases of chylomicron retention disease reported in the literature; however, this patient did not present with either of those symptoms. This case report uniquely demonstrates that lack of early or persistent digestive symptoms of diarrhea or vomiting does not exclude a diagnosis of chylomicron retention disease.