title: [Isolated vitamin E deficiency].
abstract: Since the detection of vitamin E in 1922, nearly 50 years passed until the recognition that there is a pathogenic vitamin E deficiency in humans. Such a deficiency can be found mostly in a disturbed resorption or transport of the vitamin (mucoviscidosis, chronic cholestasis, abetalipoproteinaemia) and leads typically to a progredient spinocerebellar ataxia in combination with a polyneuropathy. Substitution of the vitamin may hinder a further progression or even lead to an amelioration of the symptoms. Prophylactic treatment in abetalipoproteinaemia prevents the otherwise unavoidable neurological deficits. Isolated vitamin E deficiency is a rare syndrome and the causes are still obscure. We observed a 26 year old male patient with such a isolated vitamin E deficiency who was hitherto thought to suffer from Friedreich's ataxia. The clinical feature showed in addition to the "classical" symptoms of vitamin E deficiency cranial nerve involvement, perioral dystonia and pyramidal signs. Histologically (M. gastrocnemius) we saw the described typical but not specific changes (neurogenic atrophy, phosphatase-positive vacuoles with myelin bodies, cores). An oral vitamin E resorption test yielded a very shortened serum half life. These results support the hypothesis that in the pathophysiology of isolated vitamin E deficiency malelimination plays an important role in addition the known malresorptions models.
authors.affiliation: Universitäts-Nervenklinik Neurologie, Homburg/Saar.
authors.forename: W
authors.initials: W
authors.lastname: Trabert
authors.forename: T
authors.initials: T
authors.lastname: Stober
authors.forename: U
authors.initials: U
authors.lastname: Mielke
authors.forename: F S
authors.initials: FS
authors.lastname: Heck
authors.forename: K
authors.initials: K
authors.lastname: Schimrigk
mesh_terms: D000328:Adult; D001706:Biopsy; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009132:Muscles / Q000294:innervation / Q000473:pathology; D009133:Muscular Atrophy / Q000473:pathology; D009412:Nerve Fibers / Q000473:pathology; D013132:Spinocerebellar Degenerations / Q000473:pathology*; D014810:Vitamin E / Q000008:administration & dosage; D014811:Vitamin E Deficiency / Q000473:pathology*
chemical_list: D014810:Vitamin E
vernacular_title: Isolierter Vitamin-E-Mangel.