Chang YY, Yu CQ, Zhu L. Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report . World J Clin Cases 2022; 10(29): 10681-10688 [PMID: 36312475 DOI: 10.12998/wjcc.v10.i29.10681]
Corresponding Author of This Article
Chuan-Qing Yu, MD, Chief Doctor, Department of Neurology, The First Affiliated Hospital of Anhui University of Science and Technology, First People’s Hospital of Huainan, No. 203 Road, Huainan 232007, Anhui Province, China. yuchuanqing1969@126.com
Research Domain of This Article
Clinical Neurology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Oct 16, 2022; 10(29): 10681-10688 Published online Oct 16, 2022. doi: 10.12998/wjcc.v10.i29.10681
Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report
Yue-Yue Chang, Chuan-Qing Yu, Lei Zhu
Yue-Yue Chang, Chuan-Qing Yu, Lei Zhu, 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
Author contributions: Chang YY was responsible for the conceptualization, methodology, data curation, and writing - original draft preparation; Yu CQ did the visualization and investigation; Zhu L was responsible for manuscript writing, reviewing, and editing.
Supported bythe Key project of Education Department of Anhui Province, No. KJ2019A0096; Huainan science and technology planning project, No. 2016A26(3); and Project Research Fund of Anhui University of Science and Technology, No. fsyyyb2020-03.
Informed consent statement: Written informed consent for publication was obtained from the patient.
Conflict-of-interest statement: All authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Chuan-Qing Yu, MD, Chief Doctor, Department of Neurology, The First Affiliated Hospital of Anhui University of Science and Technology, First People’s Hospital of Huainan, No. 203 Road, Huainan 232007, Anhui Province, China. yuchuanqing1969@126.com
Received: April 27, 2022 Peer-review started: April 27, 2022 First decision: June 27, 2022 Revised: July 9, 2022 Accepted: September 8, 2022 Article in press: September 8, 2022 Published online: October 16, 2022 Processing time: 154 Days and 21.6 Hours
Abstract
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 disease 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.
Core Tip: This study identified a case of delayed diagnosis of cerebrotendinous xanthomatosis (CTX) that resulted in severe neurological impairment. CTX is caused by CYP27A1 gene mutations, and one rare mutation and one known mutation were identified in our patient. CTX diagnosis must be made early to avoid neurologic injury and worsening. This finding also provides new data for further revealing the pathogenesis of CTX, enriching the pathogenic mutation spectrum of the CYP27A1 gene and molecular diagnosis of the disease, which is of great significance for fertility guidance and prenatal diagnosis of this patient in the future.
