title: 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.affiliation: Institute of Neurology, School of Medicine, University of Catanzaro, Italy.
authors.forename: U
authors.initials: U
authors.lastname: Aguglia
authors.forename: G
authors.initials: G
authors.lastname: Annesi
authors.forename: G
authors.initials: G
authors.lastname: Pasquinelli
authors.forename: P
authors.initials: P
authors.lastname: Spadafora
authors.forename: A
authors.initials: A
authors.lastname: Gambardella
authors.forename: F
authors.initials: F
authors.lastname: Annesi
authors.forename: A A
authors.initials: AA
authors.lastname: Pasqua
authors.forename: F
authors.initials: F
authors.lastname: Cavalcanti
authors.forename: L
authors.initials: L
authors.lastname: Crescibene
authors.forename: A
authors.initials: A
authors.lastname: Bagalà
authors.forename: F
authors.initials: F
authors.lastname: Bono
authors.forename: R L
authors.initials: RL
authors.lastname: Oliveri
authors.forename: P
authors.initials: P
authors.lastname: Valentino
authors.forename: M
authors.initials: M
authors.lastname: Zappia
authors.forename: A
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000328:Adult; D002648:Child; D002914:Chylomicrons / Q000378:metabolism* / Q000648:ultrastructure; D006801:Humans; D007413:Intestinal Mucosa / Q000648:ultrastructure; D008279:Magnetic Resonance Imaging; D008297:Male; D008854:Microscopy, Electron; D013132:Spinocerebellar Degenerations / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D014810:Vitamin E / Q000097:blood; D014811:Vitamin E Deficiency / Q000097:blood / Q000209:etiology*
chemical_list: D002914:Chylomicrons; D014810:Vitamin E