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.
Aguglia
U
U
Institute of Neurology, School of Medicine, University of Catanzaro, Italy.
Annesi
G
G
Pasquinelli
G
G
Spadafora
P
P
Gambardella
A
A
Annesi
F
F
Pasqua
A A
AA
Cavalcanti
F
F
Crescibene
L
L
Bagalà
A
A
Bono
F
F
Oliveri
R L
RL
Valentino
P
P
Zappia
M
M
Quattrone
A
A
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*
D002914:Chylomicrons; D014810:Vitamin E