Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 26, 2022; 10(18): 6168-6174
Published online Jun 26, 2022. doi: 10.12998/wjcc.v10.i18.6168
CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report
Zhao-Ran Li, Yu-Ling Zhou, Qi Jin, Yin-Yin Xie, Hong-Mei Meng
Zhao-Ran Li, Yu-Ling Zhou, Qi Jin, Yin-Yin Xie, Hong-Mei Meng, Department of Neurology, The First Hospital of Jilin University, Changchun 130000, Jilin Province, China
Author contributions: Li ZR acquired patient information and prepared the manuscript; Zhou YL prepared the Figure; Jin Q and Xie YY checked the literature and proposed the idea of publishing this case study; Meng HM reviewed and edited the manuscript; and All authors read and approved the final manuscript.
Informed consent statement: Informed consent was obtained from the patient. The participant consented to the submission of the case report to the Journal.
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: Hong-Mei Meng, PhD, Doctor, Department of Neurology, The First Hospital of Jilin University, No. 71 Xinmin Street, Chaoyang District, Changchun 130000, Jilin Province, China. menghm@jlu.edu.cn
Received: November 4, 2021
Peer-review started: November 4, 2021
First decision: March 7, 2022
Revised: March 15, 2022
Accepted: April 21, 2022
Article in press: April 21, 2022
Published online: June 26, 2022
Processing time: 224 Days and 12.7 Hours
Core Tip

Core Tip: Cerebrotendinous xanthomatosis (CTX) is a rare disease for which prompt diagnosis and treatment improve patient outcomes. In addition, unreported new mutation and previously reported mutation were found in this patient. Thus, it provides new data for the further study of the pathogenesis of CTX and enriches the pathogenic mutation spectrum of CYP27A1.