A Rare Cause of Fat Malabsorption in Children: Chylomicron Retention Disease: A Case Report

YAVUZ S., TÜMGÖR G., KUYUCU Y., POLAT S.

International Journal of Pediatrics, vol.9, no.6, pp.13747-13752, 2021 (ESCI) identifier

  • Publication Type: Article / Case Report
  • Volume: 9 Issue: 6
  • Publication Date: 2021
  • Doi Number: 10.22038/ijp.2021.56367.4430
  • Journal Name: International Journal of Pediatrics
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Directory of Open Access Journals
  • Page Numbers: pp.13747-13752
  • Keywords: Children, Chylomicron Retention Disease, Malabsorption, SAR1B gene, MUTATIONS
  • Çukurova University Affiliated: Yes

Abstract

Background: Chylomicron retention disease is an autosomal recessive disorder causing malabsorption of intestinal fat. It is extremely rare. This report is presented because although the condition is rare in cases presenting with fatty diarrhea, inability to gain weight, and abdominal distension, it should nevertheless be considered.