Chylomicron retention disease in a 2-year-old girl with a novel deletion in the SAR1b gene: A case report and literature review

Abstract

Chylomicron retention disease (CMRD) is a rare disorder of lipid absorption, and its prevalence is <1/million. It is an autosomal recessive disorder with a genetic mutation in the SAR1B gene. We report a case of a girl who had the typical symptoms in the early infancy, in whom CMRD was strongly suspected clinically and due to the endoscopy findings. Unfortunately, the treatment was delayed, waiting for genetic confirmation, which was not available in her country. When we first saw the patient at the age of 2 years, she had severe failure to thrive. She recovered very fast with a trial of a fat-restricted diet and medium chain fatty acid supplementation. The working diagnosis of CMRD was later confirmed genetically. We conclude that a therapeutic trial is essential in this type of disease once the diagnosis is suspected to avoid further damage to the patient. This applies especially to resource-restricted environments.

Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan

“…This pattern is attributed to the accumulation of fat within the cells of gastric mucosa and, hence, such cells are called "fatfilled enterocytes.'' Biopsy, generally, shows normal villi, but sometimes mild atrophy can be found [13]. Unfortunately, due to limited resources and unavailability of these investigations at our clinical setup, we could not perform colonoscopy and biopsy.…”

Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria

“…CRD is associated with fat-soluble vitamin deficiency (A, D, E, K) that can cause serious complications (Table 3 ). Early diagnosis of vitamins helps in reducing the long-term complications that may not be inversed fully with supplementation [ 9 ].…”