Abstract：
UNASSIGNED: Cerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive disorder with varied clinical manifestations and age of onset and is often diagnosed late. We report three cases of CTX who presented at our center with clinical features of frequent diarrhea, early cataracts, xanthomas, cognitive decline, ataxia, neuropathy, and other manifestations of CTX. Magnetic resonance imaging (MRI) brain in all three patients revealed abnormalities consistent with CTX. Diagnosis was confirmed by next-generation sequencing. Chenodeoxycholic acid (CDCA) is recommended as the drug of choice, as it can halt the disease progression and reverse some of the symptoms. In addition to late diagnosis, nonavailability of CDCA in our part of world adds to the problem of management of such patients; therefore, they are often started on alternative therapies, which are less effective.
摘要：
■脑性黄瘤病（CTX）是一种可治疗的常染色体隐性遗传疾病，临床表现和发病年龄各不相同，通常诊断较晚。我们报告了三例CTX病例，他们在我们中心出现了频繁腹泻的临床特征，早期白内障,黄色瘤,认知能力下降,共济失调,神经病,和CTX的其他表现。所有三名患者的磁共振成像（MRI）脑部均显示与CTX一致的异常。诊断通过下一代测序得到证实。鹅去氧胆酸（CDCA）被推荐为首选药物，因为它可以阻止疾病进展并逆转一些症状。除了晚期诊断，在我们这个地区，CDCA的不可用增加了对此类患者的管理问题；因此，他们经常开始使用替代疗法，效果较差。
