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

Autor: Nayak K; From the Pediatrics, Kaiser Permanente, Oakland, CA., Fuentebella J; Pediatric Gastroenterology, Kaiser Permanente, Oakland, CA.
Jazyk: angličtina
Zdroj: JPGN reports [JPGN Rep] 2021 Nov 29; Vol. 3 (1), pp. e145. Date of Electronic Publication: 2021 Nov 29 (Print Publication: 2022).
DOI: 10.1097/PG9.0000000000000145
Abstrakt: 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.
Competing Interests: The authors report no funding and conflicts of interest.
(Copyright © 2021 The Author(s). Published by Wolters Kluwer on behalf of European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)
Databáze: MEDLINE
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