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 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.

Primary intestinal lymphangiectasia in a 23-month- old girl.

Primary intestinal lymphangiectasia (PIL) is a rare protein-losing gastroenteropathy which is defined as dilation of existing mucosal, submucosal, or subserosal lymphatics within the gastrointestinal tract. That causes loss of lymph fluid into the gastrointestinal tract, leading to the development of hypoproteinemia, edema, lymphocytopenia, hypogammaglobinemia, and immunologic anomalies. It is usually diagnosed in patients younger than 3 years old and is rarely first diagnosed in adulthood. Here we have a case report in a 23-month- old female presented with the complaint of peripheral edema and diarrhea. The diagnosis of PIL was made through upper gastrointestinal endoscopy and pathology histologic analysis. Patient placed on oral supplements of medium-chain triglycerides, a high protein diet, supplements of fat-soluble vitamins and responded well.