Willison H J, Muller D P, Matthews S, Jones S, Kriss A, Stead R J, Hodson M E, Harding A E
J Neurol Neurosurg Psychiatry. 1985 Nov;48(11):1097-102. doi: 10.1136/jnnp.48.11.1097.
A patient with cystic fibrosis and undetectable serum vitamin E concentrations is described who developed a progressive spinocerebellar syndrome and pigmentary retinopathy with abnormal somatosensory and visual evoked potentials (SSEPs and VEPs). In order to assess the relationship between neurological function and serum vitamin E concentrations in cystic fibrosis, 29 unselected patients who had no neurological symptoms were examined neurologically. Ten were randomly selected for neurophysiological assessment by recording SSEPs and VEPs. Electroretinograms (ERGs) were also performed in five cases. The findings were correlated with serum vitamin E concentrations which were unknown to the neurological investigators prior to completion of the study. Only one patient had definite reflex and sensory abnormalities, and the remaining 28 were clinically normal. The ERG was abnormal in two cases, one of whom had abnormal VEPs. SSEPs were normal in all 10 cases. Twenty six patients had serum vitamin E concentrations below the normal range. In two of the three patients who had definite neurological or electrophysiological abnormalities serum vitamin E concentrations were below the median value for the whole group.
本文描述了一名患有囊性纤维化且血清维生素E浓度检测不到的患者，该患者出现了进行性脊髓小脑综合征和色素性视网膜病变，并伴有异常的体感诱发电位（SSEPs）和视觉诱发电位（VEPs）。为了评估囊性纤维化患者神经功能与血清维生素E浓度之间的关系，对29例未出现神经症状的患者进行了神经学检查。随机选取10例患者通过记录SSEPs和VEPs进行神经生理学评估。还对5例患者进行了视网膜电图（ERG）检查。研究结果与血清维生素E浓度相关，在研究完成之前神经学研究人员并不知道这些浓度。只有1例患者有明确的反射和感觉异常，其余28例临床正常。2例患者的ERG异常，其中1例患者的VEPs异常。10例患者的SSEPs均正常。26例患者的血清维生素E浓度低于正常范围。在3例有明确神经或电生理异常的患者中，有2例患者的血清维生素E浓度低于全组的中位数。
