Li ZR, Zhou YL, Jin Q, Xie YY, Meng HM. CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report. World J Clin Cases 2022; 10(18): 6168-6174 [PMID: 35949830 DOI: 10.12998/wjcc.v10.i18.6168]
Corresponding Author of This Article
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
Research Domain of This Article
Neurosciences
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/
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
Abstract
BACKGROUND
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease caused by mutations in CYP27A1. It has a low incidence rate, insidious onset, and diverse clinical manifestations. It can be easily misdiagnosed and can go unrecognized by clinicians, leading to delayed treatment and worsened patient outcomes.
CASE SUMMARY
A 38-year-old male was admitted to our hospital with a history of unabating unstable posture and difficulty in walking for more than 30 years. Subsequently based on the patient's medical history, clinical symptoms, magnetic resonance imaging and gene sequencing results, he was finally diagnosed with CTX. Due to the low incidence rate of the disease, clinicians have insufficient knowledge of it, which makes the diagnosis process more tortuous and prolongs the diagnosis time.
CONCLUSION
Prompt diagnosis and treatment of CTX improve patient outcomes.
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.
