维生素E缺乏伴严重肌张力障碍的共济失调：一例报告

Ataxia with vitamin E deficiency and severe dystonia: report of a case.

作者信息

Roubertie Agathe, Biolsi Brigitte, Rivier François, Humbertclaude Véronique, Cheminal Renée, Echenne Bernard

机构信息

Service de Neuropédiatrie, Hôpital Saint Eloi, 80 Avenue Augustin Fliche, 34295 Montpellier Cedex 5, France.

出版信息

Brain Dev. 2003 Sep;25(6):442-5. doi: 10.1016/s0387-7604(03)00054-8.

DOI:10.1016/s0387-7604(03)00054-8

PMID:12907280

Abstract

Mutation of the gene for alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency, a disorder usually stabilized or improved after vitamin E supplementation. Dystonia has rarely been described in ataxia with isolated vitamin E deficiency (AVED) patients. We present the case of a young boy with AVED, whose neurological and extra-neurological cardinal symptoms of the disease improved after vitamin E supplementation but who progressively developed generalized dystonia.

摘要

α-生育酚转运蛋白基因突变会导致单纯维生素E缺乏性共济失调，这种病症在补充维生素E后通常会稳定或改善。单纯维生素E缺乏性共济失调（AVED）患者很少出现肌张力障碍。我们报告了一例患有AVED的小男孩病例，其在补充维生素E后，该疾病的神经和神经外主要症状有所改善，但却逐渐发展为全身性肌张力障碍。