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Vitamin E deficiency due to chylomicron retention disease in Marinesco‐Sjögren syndrome
Author(s) -
Aguglia Umberto,
Annesi Grazia,
Pasquinelli Gianandrea,
Spadafora Patrizia,
Gambardella Antonio,
Annesi Ferdinanda,
Pasqua Angela Aurora,
Cavalcanti Francesca,
Crescibene Lucia,
Bagalà Angelo,
Bono Francesco,
Oliveri Rosario L.,
Valentino Paola,
Zappia Mario,
Quattrone Aldo
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200002)47:2<260::aid-ana21>3.0.co;2-v
Subject(s) - chylomicron , endocrinology , medicine , postprandial , xerophthalmia , ataxia , vitamin e deficiency , vitamin , vitamin a deficiency , chemistry , diabetes mellitus , vitamin e , biochemistry , very low density lipoprotein , lipoprotein , retinol , cholesterol , antioxidant , psychiatry
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. Ann Neurol 2000;47:260–264