Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation:A case report  

作　　者：Yue-Yue Chang Chuan-Qing Yu Lei Zhu 

机构地区：[1]Department of Neurology,The First Affiliated Hospital of Anhui University of Science and Technology,First People’s Hospital of Huainan,Huainan 232007,Anhui Province,China

出　　处：《World Journal of Clinical Cases》2022年第29期10681-10688,共8页世界临床病例杂志

基　　金：Supported by the Key project of Education Department of Anhui Province,No. KJ2019A0096;Huainan science and technology planning project,No. 2016A26(3);Project Research Fund of Anhui University of Science and Technology,No. fsyyyb2020-03。

摘　　要：BACKGROUND Cerebrotendinous xanthomatosis is an autosomal recessive disorder of lipid metabolism caused by the mutation of the CYP27A1 gene encoding sterol 27-hydroxylase,an essential enzyme for the conversion of cholesterol to chenodeoxycholic and cholic acids.Cerebrotendinous xanthomatosis is a rare neurological dis-ease with a wide range of clinical symptoms that are easily misdiagnosed.CASE SUMMARY Here we report the clinical,biochemical,and molecular characterization of a 33-year-old female patient with cerebrotendinous xanthomatosis.The patient developed ataxia and had the typical symptoms of juvenile cataracts,tendon xanthomata,and progressive nervous system dysfunction.Magnetic resonance imaging of the brain revealed bilateral dentate nucleus lesions and white matter abnormalities.This patient was misdiagnosed for 2 years resulting in severe neurological complications.After 2 years of chenodeoxycholic acid treatment,she still presented with ataxia and dysarthria.The pathogenic sites of CYP27A1 were identified as c.255+1G>T and c.1263+1G>T,which were both caused by shear denaturation.CONCLUSION Cerebrotendinous xanthomatosis requires a multidisciplinary diagnosis that must be made early to avoid progressive neurological degeneration.c.1263+1G>T is a known mutation,but c.255+1G>T is a rare mutation site.

关 键 词：Cerebrotendinous xanthomatosis CYP27A1 gene ATAXIA Juvenile cataracts Tendon xanthoma Lipid metabolism Case report 

分 类 号：R742[医药卫生—神经病学与精神病学]