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.

Massive hematemesis and melena stool: A case report of unusual manifestation of Cow's milk protein intolerance.

Cow's milk protein intolerance (CMPI) is a common condition that causes gastrointestinal bleeding in the first year of life. It is the most common cause of chronic blood loss and anemia; however, severe massive hematemesis is an uncommon condition. Herein, we present a case of severe massive hematemesis with melena stool in a six-month-old boy with cow's milk protein intolerance. In this case, we described management used in poor developing countries.