Swartz M, Burman K D, Salen G
Am J Med Sci. 1982 May-Jun;283(3):147-52. doi: 10.1097/00000441-198205000-00005.
Patients with cerebrotendinous xanthomatosis may present with adolescent-onset cataracts and tendon xanthomas, and can have progressive neurological, myocardial, pulmonary, and endocrine dysfunction leading to death. The disease is inherited as an autosomal recessive and results in increasing deposition of cholesterol and cholestanol in vital organ systems; the primary biochemical abnormality is a block in bile acid synthesis which is manifested by a diminished pool of chenodeoxycholic acid. Replacement therapy with chenodeoxycholic acid may reduce cholesterol and cholestanol production.
脑腱黄瘤病患者可能会出现青少年期发病的白内障和肌腱黄瘤，并可能出现进行性神经、心肌、肺和内分泌功能障碍，最终导致死亡。该疾病以常染色体隐性方式遗传，导致胆固醇和胆甾烷醇在重要器官系统中沉积增加；主要的生化异常是胆汁酸合成受阻，表现为鹅去氧胆酸池减少。用鹅去氧胆酸进行替代疗法可能会减少胆固醇和胆甾烷醇的产生。
