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与维生素E缺乏相关的感觉性轴索性神经病

Sensory Axonopathy Associated With Vitamin E Deficiency.

作者信息

Chan Kok Hoe, O'Sullivan Michael, Farouji Iyad, Are Gowthami, Slim Jihad

机构信息

Internal Medicine, Saint Michael's Medical Center, Newark, USA.

Internal Medicine, University of New England College of Osteopathic Medicine, Maine, USA.

出版信息

Cureus. 2021 Feb 17;13(2):e13389. doi: 10.7759/cureus.13389.

DOI:10.7759/cureus.13389
PMID:33754112
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7971715/
Abstract

Vitamin E deficiency can be observed in patients with malabsorption syndromes or inherited diseases such as ataxia. It is unusual for it to be a result of dietary insufficiency due to its presence in a wide variety of foods. Patients with vitamin E deficiency can present with neuromuscular disorders such as ataxia, hyporeflexia, spinocerebellar syndrome, as well as loss of vibration and proprioceptive sensation. Herein, we are presenting a case in which a previously healthy adult with no family history of genetic defects and malabsorption syndrome presented with a characteristic sensory axonopathy associated with vitamin E deficiency without any evidence of fat malabsorption. Patient reported a markedly improvement of symptoms after three-month supplementation of vitamin E. The unique part of this case was that the patient presented with neuropathic pain associated with vitamin E deficiency without any family history of inherited deficiency or any malabsorption syndrome.

摘要

维生素E缺乏症可见于患有吸收不良综合征或遗传性疾病(如共济失调)的患者。由于其存在于多种食物中,饮食不足导致维生素E缺乏症的情况并不常见。维生素E缺乏症患者可能出现神经肌肉疾病,如共济失调、反射减退、脊髓小脑综合征,以及振动觉和本体感觉丧失。在此,我们报告一例病例,一名既往健康、无遗传缺陷和吸收不良综合征家族史的成年人,出现了与维生素E缺乏相关的典型感觉轴索性神经病,且无任何脂肪吸收不良的证据。患者报告在补充维生素E三个月后症状明显改善。该病例的独特之处在于,患者出现了与维生素E缺乏相关的神经性疼痛,却没有任何遗传性缺乏家族史或任何吸收不良综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de31/7971715/b3c9402099bd/cureus-0013-00000013389-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de31/7971715/36cecb793954/cureus-0013-00000013389-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de31/7971715/b3c9402099bd/cureus-0013-00000013389-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de31/7971715/36cecb793954/cureus-0013-00000013389-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de31/7971715/b3c9402099bd/cureus-0013-00000013389-i02.jpg

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[Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations].[成人起病的感觉性神经病和共济失调作为POLG基因突变的临床表现]
Rev Neurol. 2023 Feb 1;76(3):75-81. doi: 10.33588/rn.7603.2022322.

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