An Unusual Case of Pale Stools
An 8-month-old white girl presented with pale loose stools and faltering growth despite adequate caloric provision during a 4-month period. Stool examination showed fat globules but normal faecal elastase and α1-antitrypsin.
Initial abnormal results were alanine transaminase (232 IU/L), cholesterol (0.9 mmol/L), triglycerides (0.15 mmol/L), and vitamin E (1.9 μmol/L). Peripheral blood showed presence of “acanthocytes” (Fig. 1). Lipoprotein electrophoresis showed lack of pre-β (very-low-density lipoprotein) and β (low-density lipoprotein) regions with low serum apolipoprotein B100 (<0.10 g/L). Endoscopy showed “white carpeted duodenal mucosa” (Fig. 2) with vacuolated enterocytes and crypt hyperplasia on histology. Oil Red O stain highlighted lipid droplets within vacuolated epithelial cells (Fig. 3). All these features were consistent with the diagnosis of abetalipoproteinaemia. Her weight and development improved with low-fat, high-carbohydrate feed with supranormal doses of fat-soluble vitamin (FSV) supplements, particularly vitamin E.
Abetalipoproteinemia is a rare cause of malabsorption in infancy owing to a transport defect (microsomal triglyceride transfer protein) (1) in the cytoplasm, leading to long-chain fatty acid accumulation in enterocytes. Long-term complications are the result of FSV deficiency, in particular vitamin E (peripheral neuropathy most commonly reported). The goal of therapy is supplementing FSV while reducing the overall fat provision.
© 2015 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,
1. Zamel R, Khan R, Pollex RL, et al Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis