脑一位黄色瘤病（cere5rotendnousx“”－thomatosis，CTX）是一种以常染色体隐性方式遗传的固醇代谢障碍，由固醇一27羟化酶基因（CYP27）突变所致。CTX常伴有胆固醇和H氢胆固醇在不同组织，尤其是中枢神经系统中累积。本病的临床表现包括黄色痛、白内障、各种神经功能异常如 Cerebral otolaryngosis (CTX) is an autosomal recessive steroid metabolism disorder caused by the mutation of the sterol-27 hydroxylase gene (CYP27). CTX is often accompanied by the accumulation of cholesterol and H-hydrogen cholesterol in different tissues, especially the central nervous system. The clinical manifestations of the disease include yellow pain, cataracts, such as various nerve dysfunction