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

We report on 2 brothers (aged 19 and 12 years) with Marinesco‐Sjögren syndrome who also had very low serum vitamin E concentrations with an absence of postprandial chylomicrons. The molecular study ruled out ataxia with isolated vitamin E deficiency, abetalipoproteinemia, and hypobetalipoproteinemia. The electron microscopy of the intestinal mucosa was consistent with a chylomicron retention disease. We speculate that both chylomicron retention disease and Marinesco‐Sjögren syndrome are related to defects in a gene crucial for the assembly or secretion of the chylomicron particles, leading to very low serum levels of vitamin E. Ann Neurol 2000;47:260–264