Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
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 by the 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:
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.
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
Core Tip

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.