Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 26, 2021; 9(24): 7169-7174
Published online Aug 26, 2021. doi: 10.12998/wjcc.v9.i24.7169
Idiopathic basal ganglia calcification associated with new MYORG mutation site: A case report
Bei-Ni Fei, Hui-Zhen Su, Xiang-Ping Yao, Jing Ding, Xin Wang
Bei-Ni Fei, Jing Ding, Xin Wang, Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
Hui-Zhen Su, Xiang-Ping Yao, Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou 350108, Fujian Province, China
Jing Ding, Xin Wang, CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai 200032, China
Author contributions: Fei BN collected the clinical data and was the major contributor in writing the manuscript; Su HZ and Yao XP performed the genetic analysis; all authors read and approved the final manuscript; Ding J and Wang X were the patient's attending physicians and directed the writing of the article.
Supported by National Key R&D Program of China, No. 2018YFC1312900.
Informed consent statement: Written informed consent was obtained from the patient for the publication of any potentially identifiable images or data included in this article.
Conflict-of-interest statement: We declare that we 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: Jing Ding, MD, Doctor, Department of Neurology, Zhongshan Hospital, Fudan University, No. 180 Fenglin Road, Shanghai 200032, China. ding.jing@zs-hospital.sh.cn
Received: January 11, 2021
Peer-review started: January 11, 2021
First decision: April 25, 2021
Revised: May 1, 2021
Accepted: July 5, 2021
Article in press: July 5, 2021
Published online: August 26, 2021
Core Tip

Core Tip: Idiopathic basal ganglia calcification (IBGC) is characterized by calcification of basal ganglia and other regions of the brain. IBGC is clinically heterogeneous and usually exhibits an autosomal dominant pattern of inheritance. We report a case of a 61-year-old man who presented with symptoms of dysphagia and alalia. His computed tomography scan of the brain revealed bilateral symmetric calcifications of basal ganglia, cerebellum, thalamus, and periventricular area. The genetic test showed a new mutation site of MYORG.