无β脂蛋白血症。一例伴有病理研究的病例报告。

Yuill G M, Scholz C, Lascelles R G

Postgrad Med J. 1976 Nov;52(613):713-20. doi: 10.1136/pgmj.52.613.713.

The clinical and pathological features of a case of abetalipoproteinaemia in a 38-year-old patient are described in detail. A feature not previously recorded was a marked reduction in the velocity of ocular horizontal saccadic movements. Pathological studies revealed an active chronic demyelinating process. The patient showed no response to large doses of vitamin E. The rationale for this therapy, and the possible reasons for its failure are discussed.

详细描述了一名38岁无β脂蛋白血症患者的临床和病理特征。一个此前未记录的特征是眼球水平扫视运动速度显著降低。病理研究显示存在活跃的慢性脱髓鞘过程。该患者对大剂量维生素E无反应。讨论了这种治疗方法的基本原理及其失败的可能原因。