PDF(Pubmed)
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：
在患有吸收不良综合征或遗传性疾病如共济失调的患者中可以观察到维生素E缺乏。由于它存在于各种各样的食物中，因此它是饮食不足的结果，这是不寻常的。维生素E缺乏的患者可出现神经肌肉疾病，如共济失调，反射减退,脊髓小脑综合征,以及振动和本体感觉的丧失。在这里，我们提出了一个病例，其中一个以前健康的成年人，没有遗传缺陷和吸收不良综合征的家族史，出现了与维生素E缺乏相关的特征性感觉轴突病，没有任何脂肪吸收不良的证据。患者报告补充维生素E三个月后症状明显改善。这种情况的独特部分是患者出现与维生素E缺乏相关的神经性疼痛，没有任何遗传性缺乏或任何吸收不良综合征的家族史。
