Perlmutter D H, Gross P, Jones H R, Fulton A, Grand R J
Am J Dis Child. 1987 Feb;141(2):170-4. doi: 10.1001/archpedi.1987.04460020060027.
Progressive spinocerebellar degeneration was identified in six children with chronic cholestatic liver disease and attributed to severe vitamin E deficiency. In addition to areflexia, ataxia, dysmetria, and diminished vibratory and position sense, three patients had pigmentary retinopathy. Abnormalities were present on electromyography, nerve conduction studies, and electroretinography. Because the vitamin E deficiency was not corrected by oral administration of massive doses of vitamin E, vitamin E was administered by the intramuscular route. With doses of 50 to 100 mg of vitamin E every three to seven days, over a 32-month interval (range, 15 to 44 months), vitamin E deficiency and abnormal red blood cell peroxide hemolysis were corrected. Other than discomfort and occasional edema at the site of injection, there were no side effects of parenteral vitamin E therapy. In several other studies intramuscular vitamin E therapy has produced significant neurologic improvement in patients with similar characteristics. In this study clinical progression of spinocerebellar degeneration was arrested but improvement could not be demonstrated despite adequate vitamin E replacement.
在6例慢性胆汁淤积性肝病患儿中发现进行性脊髓小脑变性，病因是严重维生素E缺乏。除了反射消失、共济失调、辨距不良以及振动觉和位置觉减退外，3例患者还患有色素性视网膜病变。肌电图、神经传导研究和视网膜电图均出现异常。由于口服大剂量维生素E无法纠正维生素E缺乏，故采用肌肉注射途径给予维生素E。每三至七天注射50至100毫克维生素E，在32个月的时间间隔内（范围为15至44个月），维生素E缺乏和异常的红细胞过氧化物溶血得到纠正。除了注射部位不适和偶尔出现水肿外，胃肠外维生素E治疗没有其他副作用。在其他几项研究中，肌肉注射维生素E疗法已使具有类似特征的患者神经功能得到显著改善。在本研究中，脊髓小脑变性的临床进展得到了阻止，但尽管维生素E替代充足，仍未显示出改善。
