Aguglia U, Annesi G, Pasquinelli G, Spadafora P, Gambardella A, Annesi F, Pasqua A A, Cavalcanti F, Crescibene L, Bagalà A, Bono F, Oliveri R L, Valentino P, Zappia M, Quattrone A
Institute of Neurology, School of Medicine, University of Catanzaro, Italy.
Ann Neurol. 2000 Feb;47(2):260-4.
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.
