PDF(Pubmed)
Abstract：
Xanthomatosis is a genetic disease inherited in an autosomal recessive manner. The specific phenotypic features are associated with patient\'s genetic profile. The result of the mutation is disorder of cholesterol synthesis and the accumulation of its precursors in tissues. The characteristic symptoms are progressive cerebellar ataxia, cataract, diarrhea, and the deposition of cholesterol in the tendons. Our objective is to follow-up information to treatment efficacy of 22-year-old patient diagnosed with cerebrotendinous xanthomatosis through 1.5 year observation. In 2012, an 11-year-old patient with a long history of deformed feet and frequent yellowing of the skin, was admitted to the Department of Neurology due to seizures. In 2013, the patient began to suffer from diarrhea, and its frequency was correlated with the concentration of bilirubin in the blood. In the same year cataract was diagnosed. Gradually, the patient starts to complain about progressive difficulties in moving. In 2019, genetic tests confirmed the diagnosis of cerebrotendinous xanthomatosis. Since July 2021, the patient has been treated with chenodeoxycholic acid. The deterioration of patient\'s mobility has been significantly inhibited, consequently his quality of life has improved. The presented case report underscores the efficacy of CDCA supplementation in halting the progression of CTX, resulting in marked improvements in the patient\'s quality of life.
摘要：
黄瘤病是一种常染色体隐性遗传的遗传疾病。特定的表型特征与患者的遗传特征相关。突变的结果是胆固醇合成障碍及其前体在组织中的积累。特征性症状是进行性小脑共济失调，白内障,腹泻,和胆固醇在肌腱中的沉积。我们的目标是通过1.5年的观察来随访22岁诊断为脑性黄瘤病的患者的治疗效果。2012年，一名11岁的患者，脚变形历史悠久，皮肤经常变黄，因癫痫发作进入神经内科。2013年，患者开始腹泻，其频率与血液中胆红素的浓度有关。同年，白内障被诊断出来。渐渐地,病人开始抱怨移动困难。2019年，基因测试证实了脑性黄瘤病的诊断。自2021年7月以来，患者接受了鹅去氧胆酸治疗。患者活动能力的恶化已被显著抑制,因此，他的生活质量得到了改善。本病例报告强调了CDCA补充剂在阻止CTX进展方面的疗效。显著改善患者的生活质量。
