Chakraverty S, Griffiths P D, Walls T J, McAllister V L
Department of Neuroradiology, Newcastle General Hospital, Newcastle upon Tyne.
Clin Radiol. 1995 Feb;50(2):117-9. doi: 10.1016/s0009-9260(05)82994-0.
Cerebrotendinous xanthomatosis is a rare inherited disorder of bile acid metabolism producing xanthomata and severe, progressive neurological deficits. In spite of the rarity of the condition it is important because it is treatable: the neurological deterioration can be halted and in some cases reversed.
脑腱黄瘤病是一种罕见的胆汁酸代谢遗传性疾病,可产生黄瘤和严重的进行性神经功能缺损。尽管这种疾病很罕见,但它很重要,因为它是可治疗的:神经功能恶化可以停止,在某些情况下还可以逆转。