Cao LX, Yang M, Liu Y, Long WY, Zhao GH. Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review . World J Clin Cases 2020; 8(21): 5446-5456 [PMID: 33269283 DOI: 10.12998/wjcc.v8.i21.5446]
Corresponding Author of This Article
Guo-Hua Zhao, MD, Doctor, Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, N1 Shangcheng Avenue Yiwu, Yiwu 322000, Zhejiang Province, China. gzhao@zju.edu.cn
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. Nov 6, 2020; 8(21): 5446-5456 Published online Nov 6, 2020. doi: 10.12998/wjcc.v8.i21.5446
Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review
Lan-Xiao Cao, Mi Yang, Ying Liu, Wen-Ying Long, Guo-Hua Zhao
Lan-Xiao Cao, Mi Yang, Guo-Hua Zhao, Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, Zhejiang Province, China
Ying Liu, Wen-Ying Long, Central Laboratory, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, Zhejiang Province, China
Author contributions: Cao LX analyzed the data and drafted the manuscript for intellectual content; Yang M played a major role in the acquisition of data; Liu Y interpreted the patient data; Zhao GH and Long WY revised the manuscript for intellectual content; All authors read and approved the final manuscript.
Supported byZhejiang Province Medical Science and Technology Project, No. 2020RC061 and No. 2019ZD021; Jinhua Bureau of Science and Technology Project, No. 2020-3-004.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no competing interests.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Guo-Hua Zhao, MD, Doctor, Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, N1 Shangcheng Avenue Yiwu, Yiwu 322000, Zhejiang Province, China. gzhao@zju.edu.cn
Received: July 15, 2020 Peer-review started: July 17, 2020 First decision: August 8, 2020 Revised: August 9, 2020 Accepted: September 23, 2020 Article in press: September 23, 2020 Published online: November 6, 2020 Processing time: 113 Days and 21.2 Hours
Core Tip
Core Tip: Cerebrotendinous xanthomatosis (CTX) is a metabolic disorder inherited in an autosomal recessive manner. A total of 520 CTX case reports published in the literature worldwide are reviewed to promote a better understanding of the clinical and genetic characteristics of CTX. Cataract is the most common symptom with a frequency of 80.37%, and xanthoma is the second most common systemic symptom of CTX. In all, 56.57% of patients showed electroencephalogram abnormalities including diffuse slowing, and 76.72% had abnormal magnetic resonance images. Bilateral hyperintensity of the dentate nuclei and surrounding white matter on T2 and fluid-attenuated inversion recovery sequences is considered a representative radiological feature of CTX.
