인지기능장애가 동반된 비타민 E 결핍증후군

Abstract

Vitamin E deficiency syndrome, which is related to cystic fibrosis, abetalipoproteinemia, hepatobiliary abnormalities, short bowel syndrome and idiopathic causes, can have a profound effect on the nervous system. Besides hyporeflexia, ataxia, extraocular muscular disturbances, muscle weakness or blurred vision, cognitive dysfunction associated with vitamin E deficiency can be seen. A 25-year-old male presented with progressive ataxia and cognitive dysfunction for 6 months. He showed also muscular weakness, proprioceptive dysfunction on the neurological examination. Brain and spinal MRI, brain SPECT, CSF evaluation were normal. Serum vitamin E level was lower than normative value. By vitamin E supplement, muscular weakness, cognitive dysfunction were a little bit improved. We couldn’t find any causative abnormalities for vitamin E deficiency. We experienced a case of isolated vitamin E deficiency syndrome with cognitive