Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjogren syndrome

We report on 2 brothers (aged 19 and 12 years) with Marinesco-Sjogren syndr ome who also had very low serum vitamin E concentrations with an absence of postprandial chylomicrons. The molecular study ruled out ataxia with isola ted vitamin E deficiency, abetalipoproteinemia, and hypobetalipoproteinemia The electron microscopy of the intestinal mucosa was consistent with a chy lomicron retention disease. We speculate that both chylomicron retention di sease and Marinesco-Sjogren syndrome are related to defects in a gene cruci al for the assembly or secretion of the chylomicron particles, leading to v ery low serum levels of vitamin E.