Background: Chylomicron retention disease is an autosomal recessive disorder causing malabsorption of intestinal fat. It is extremely rare. This report is presented because although the condition is rare in cases presenting with fatty diarrhea, inability to gain weight, and abdominal distension, it should nevertheless be considered.
Case Presentation: A four-month-old girl presented due to diarrhea, inability to gain weight, and lack of appetite since birth at Çukurova University, Pediatric gastroenterology outpatient clinic, Adana, Turkey. No blood or mucus was present in stool. Her general condition was average, she appeared pale and lethargic, the abdomen was distended, and no organomegaly was present. Duodenal pathology was normal but electron microscopy revealed that the enterocytes were filled with fat globules. Causes leading to fat malabsorption were investigated, and homozygous mutation was determined in the SAR1B, chylomicron retention disease, gene.
Conclusion: The patient was treated with a low-fat diet and fat-soluble vitamin supplementation resulting in significant improvement. Although it is rarely seen in patients presenting with chronic diarrhea, chylomicron retention disease should be kept in mind in the differential diagnosis.