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

Abstract

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.

• Authors: U Aguglia, G Annesi, G Pasquinelli, P Spadafora, A Gambardella, F Annesi, A A Pasqua, F Cavalcanti, L Crescibene, A Bagalà, F Bono, R L Oliveri, P Valentino, M Zappia, A Quattrone
• Journal: Annals of neurology (Ann Neurol) Vol. 47 Issue 2 Pg. 260-4 (Feb 2000) ISSN: 0364-5134 [Print] United States
• PMID: 10665502 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Chylomicrons
• Vitamin E

Topics

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