title: [Neurological manifestations in relation to vitamin E deficiency, caused by a defect of biliary acid synthesis].
abstract: A progressive neurological syndrome with cerebellar signs, abnormal proprioception, areflexia and Babinski response was observed in a child with chronic intestinal malabsorption. There was no ophtalmoplegia or retinitis pigmentosa. Electromyography and biopsy showed no axonopathy or myopathy. Two other members of the family were also affected. The serum Vitamin E corrected the serum Vitamin E levels within a few months and led to secondary neurological improvement. The authors underline the importance of searching for Vitamin E deficiency and its cause in patients, especially children, with signs of spino cerebellar degeneration. Substitative therapy may have a favorable influence on the neurological condition even when administered late.
authors.affiliation: Service de Neurologie, Hôpital Lariboisière, Paris.
authors.forename: P
authors.initials: P
authors.lastname: Chaine
authors.forename: P
authors.initials: P
authors.lastname: Le Coz
authors.forename: F
authors.initials: F
authors.lastname: Pouplard
authors.forename: D
authors.initials: D
authors.lastname: Ramirez
authors.forename: R
authors.initials: R
authors.lastname: Jian
authors.forename: M
authors.initials: M
authors.lastname: Haguenau
authors.forename: J C
authors.initials: JC
authors.lastname: Rambaud
authors.forename: B
authors.initials: B
authors.lastname: Pépin
mesh_terms: D001647:Bile Acids and Salts / Q000008:administration & dosage / Q000096:biosynthesis*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008286:Malabsorption Syndromes / Q000209:etiology; D009422:Nervous System Diseases / Q000209:etiology* / Q000628:therapy; D014811:Vitamin E Deficiency / Q000150:complications* / Q000628:therapy
chemical_list: D001647:Bile Acids and Salts
vernacular_title: Manifestations neurologiques en rapport avec une carence en vitamine E, par défaut de synthèse des acides biliaires.