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一种与单纯维生素E缺乏相关的进行性神经综合征。

A progressive neurological syndrome associated with an isolated vitamin E deficiency.

作者信息

Laplante P, Vanasse M, Michaud J, Geoffroy G, Brochu P

出版信息

Can J Neurol Sci. 1984 Nov;11(4 Suppl):561-4. doi: 10.1017/s0317167100035046.

DOI:10.1017/s0317167100035046
PMID:6509402
Abstract

Several authors have recently reported a neurological disorder associated with chronic vitamin E deficiency in man. Except in one patient, this deficiency has always been secondary to an underlying disease resulting in lipid malabsorption. We report a second case of such a neurological syndrome in a patient in whom vitamin E deficiency was an isolated finding. The clinical picture in our patient was characterized by a diffuse muscle weakness most prominent distally and in the lower limbs, generalized areflexia, a decrease in proprioception and vibration sense and slight limb and gait ataxia. His condition improved on alpha tocopherol therapy so that it is very likely that vitamin E deficiency is responsible for his neurological deficit. Since in our patient as well as in several other reported cases this condition has been treatable, it is important that this syndrome be recognized in children presenting a suggestive clinical picture even if they do not have lipid malabsorption.

摘要

最近有几位作者报道了一种与人类慢性维生素E缺乏相关的神经障碍。除了一名患者外,这种缺乏总是继发于导致脂质吸收不良的潜在疾病。我们报告了第二例这种神经综合征病例,该患者的维生素E缺乏是一个独立发现。我们患者的临床表现为弥漫性肌肉无力,最明显的是在远端和下肢,全身性反射消失,本体感觉和振动觉减退,以及轻微的肢体和步态共济失调。他的病情在α-生育酚治疗后有所改善,因此很可能是维生素E缺乏导致了他的神经功能缺损。由于在我们的患者以及其他几例报告的病例中,这种情况是可治疗的,所以即使没有脂质吸收不良,对于出现提示性临床表现的儿童来说,认识到这种综合征很重要。

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引用本文的文献

1
Neurologic manifestations of gastrointestinal and liver diseases.胃肠道和肝脏疾病的神经表现。
Curr Neurol Neurosci Rep. 2014 Oct;14(10):487. doi: 10.1007/s11910-014-0487-z.
2
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.单纯维生素E缺乏性共济失调:大量家系中的突变异质性和表型变异性
Am J Hum Genet. 1998 Feb;62(2):301-10. doi: 10.1086/301699.
3
Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization.
Biochem J. 1995 Mar 1;306 ( Pt 2)(Pt 2):437-43. doi: 10.1042/bj3060437.
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Serum vitamin E concentrations are normal in Friedreich's ataxia.弗里德赖希共济失调患者的血清维生素E浓度正常。
J Neurol Neurosurg Psychiatry. 1987 May;50(5):625-7. doi: 10.1136/jnnp.50.5.625.
5
Vitamin E--its role in neurological function.维生素E——其在神经功能中的作用。
Postgrad Med J. 1986 Feb;62(724):107-12. doi: 10.1136/pgmj.62.724.107.
6
A treatable familial neuromyopathy with vitamin E deficiency, normal absorption, and evidence of increased consumption of vitamin E.一种可治疗的伴有维生素E缺乏、吸收正常且有维生素E消耗增加证据的家族性神经肌肉病。
J Inherit Metab Dis. 1988;11 Suppl 2:149-52. doi: 10.1007/BF01804221.
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Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver.家族性单纯维生素E缺乏患者将α-生育酚整合到肝脏分泌的脂蛋白中的能力受损。
J Clin Invest. 1990 Feb;85(2):397-407. doi: 10.1172/JCI114452.