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

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 pr...

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Bibliographic Details
Published in:BMC pediatrics 2021-10, Vol.21 (1), p.1-449, Article 449
Main Authors: Doya, Leen Jamel, Mohammad, Lava, Omran, Razan, Ibrahim, Alexander Ali, Yousef, Nizar, Ibrahim, Ali, Houreih, Mohammad Adib
Format: Article
Language:English
Subjects:
Abdomen
Anderson’s disease
Apolipoproteins
Blood tests
Case Report
Case reports
Case studies
Celiac disease
Cholesterol
Chylomicron retention disease
Diagnosis
Diarrhea
Diet
Disease
Endoplasmic reticulum
Failure to thrive
Fat-soluble vitamin deficiency
Fatty acids
Genetic aspects
Health aspects
High density lipoprotein
Hypocholesteremia
Infants
Laboratories
Lipids
Lipoproteins
Medical screening
Mutation
Patients
Pediatric research
Pediatrics
Proteins
Retention
Steatorrhea
Vitamin deficiency
Vitamin E
Vomiting
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Summary: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. Keywords: Anderson's disease, Chylomicron retention disease, Failure to thrive, Fat-soluble vitamin deficiency, Steatorrhea
ISSN:1471-2431
1471-2431
DOI:10.1186/s12887-021-02897-5