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

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Chylomicrons / metabolism*
  • Chylomicrons / ultrastructure
  • Humans
  • Intestinal Mucosa / ultrastructure
  • Magnetic Resonance Imaging
  • Male
  • Microscopy, Electron
  • Spinocerebellar Degenerations / blood
  • Spinocerebellar Degenerations / complications*
  • Spinocerebellar Degenerations / diagnosis
  • Spinocerebellar Degenerations / genetics
  • Spinocerebellar Degenerations / metabolism*
  • Vitamin E / blood
  • Vitamin E Deficiency / blood
  • Vitamin E Deficiency / etiology*


  • Chylomicrons
  • Vitamin E