Chylomicron Retention Disease: An Infant Presenting with Vomiting and Failure to Thrive without Diarrhea

Megan Woods, Sandhya Parkash, Smriti Chowdhury and Mohsin Rashid

Department of Paediatrics, Division of Gastroenterology and Nutrition, Dalhousie University, Canada

^*Correspondance to: Mohsin Rashid 

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Abstract:

Chylomicron Retention Disease (Anderson’s disease) is a rare autosomal recessive disorder caused by mutation of the SAR1B gene that leads to hypercholesterolemia and accumulation of lipoproteins in the enterocytes. This can lead to deficiencies of fat soluble vitamins with serious clinical sequelae. Patients most commonly present in infancy with nonspecific symptoms such as vomiting, diarrhea and failure to thrive. Diarrhea is reported to be universally present in all cases. We report a case of an infant who presented with vomiting and growth failure and no diarrhea. Upper gastrointestinal endoscopy showed whitish appearing duodenal mucosa and small intestinal biopsies revealed steatosis of enterocytes. Genetic testing confirmed chylomicron retention disease. The child was treated with nutritional supplements and fat-soluble vitamins with good clinical results. High index of suspicion for a disorder of hypercholesterolemia and a timely diagnosis and treatment is essential to avoid serious clinical sequelae, especially neurological impairment.

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Cite the Article:

Woods M, Parkash S, Chowdhury S, Rashid M. Chylomicron Retention Disease: An Infant Presenting with Vomiting and Failure to Thrive without Diarrhea. Clin Case Rep Int. 2018; 2: 1046.