Chylomicron Retention Disease in an Indian Infant: A Rare Case Report

Abstract

Background: Chylomicron retention disease (CRD), or Anderson disease, is included in the familial hypocholesterolemia syndromes. Blockade of transport of chylomicron from the endoplasmic reticulum to the Golgi apparatus at the cellular level results in a total absence of chylomicron and apolipoprotein B-48 in the blood circulation following a fat meal. This is associated with a deficiency in liposoluble vitamins and essential fatty acids. Clinical Description: We report the clinical, laboratory, and histological details of a 7-month-old boy who presented with recurrent vomiting, steatorrhea, abdominal distension, and failure to thrive since early infancy. On examination, he had severe acute malnutrition, pallor, dry skin, and hepatomegaly. Management and Outcome: Investigations revealed anemia, normal liver function test, amylase, and hypocholesterolemia. Endoscopy showed fat-laden duodenal mucosa with inflammation and vacuolization of the enterocytes. This prompted genetic testing for CRD which was confirmed by a homozygous deletion encompassing exonic regions of 3–7 of SAR1B gene on chromosome 5 [c.(178 + 1_179-1)_ * 1_]. Our patient was treated with a low-fat diet, allowing only essential fatty acids, and supplementation with fat-soluble vitamins. There was a gradual improvement in weight gain. Conclusion: Common fat malabsorption disorders presenting in childhood have significant failure to thrive. CRD should be suspected in infants with early-onset steatorrhea, if a typical blood lipid profile and endoscopy/biopsy findings are seen. CRD is confirmed by the detection of a mutation in the SAR1B gene.

Keywords

• anderson's disease
• chylomicron retention disease
• hypocholesterolemia
• severe acute malnutrition
• steatorrhea