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Open Access 01-12-2021 | Vomiting | Case report

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

Authors: Leen Jamel Doya, Lava Mohammad, Razan Omran, Alexander Ali Ibrahim, Nizar Yousef, Ali Ibrahim, Mohammad Adib Houreih

Published in: BMC Pediatrics | Issue 1/2021

Abstract

Background

Chylomicron retention disease (Anderson disease) is a result for variant of the SAR1B gene. It is a rare autosomal recessive hereditary disorder with most incidence in infant. It is characterized by lipid malabsorption syndrome with fatty, chronic diarrhea, and growth retardation.

Case presentation

We report a case of a 19-month Syrian boy who presented with vomiting, growth failure, and chronic, fatty diarrhea. Upper gastrointestinal endoscopy showed whitish appearing duodenal mucosa and small intestinal biopsies revealed steatosis of enterocytes. Genetic testing confirmed chylomicron retention disease with the first description of variant located in the fourth helix of sar1b protein. The patient is treated with nutritional supplements and fat-soluble vitamin supplementation resulting in significant improvement.

Conclusion

Early endoscopy is recommended in infants with persistent vomiting and failure to thrive due to high suspicion for a disorder of hypocholesterolemia. Early diagnosis and treatment are essential to avoid serious clinical complications, especially neurological impairment.

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Peretti N. Lessons from chylomicron retention disease: a potential new approach for the treatment of hypercholesterolemia?. Expert Opin Orphan Drugs. 2018;6(3):163–5. https://doi.org/10.1080/21678707.2018.1438259.

Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, et al. Variants in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet. 2003;34(3):29–31. https://doi.org/10.1038/ng1145.CrossRefPubMed

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Peretti N, Sassolas A, Roy CC, et al. Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. Orphanet J Rare Dis. 2010;5(4):24–8. https://doi.org/10.1186/1750-1172-5-24.CrossRefPubMedPubMedCentral

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Woods M, Parkash S, Chowdhury S, Rashid M. A177 chylomicron retention disease: a case of infant presenting with vomiting and failure to thrive without diarrhea. J Can Assoc Gastroenterol. 2018;1(2):261–6. https://doi.org/10.1093/jcag/gwy009.177.CrossRefPubMedCentral

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Ibrahim J, Zaabi N, Hertecant J. Chylomicron retention disease in a 2-year-old girl with a novel deletion in the SAR1b gene: a case report and literature review. Indian J Child Health. 2018;5(2):699–702. https://doi.org/10.32677/IJCH.2018.v05.i11.012.CrossRef

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Title: Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria
Authors: Leen Jamel Doya
Lava Mohammad
Razan Omran
Alexander Ali Ibrahim
Nizar Yousef
Ali Ibrahim
Mohammad Adib Houreih
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Vomiting
Diarrhea
Diarrhea
Published in: BMC Pediatrics / Issue 1/2021
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-021-02897-5

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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