Fei BN, Su HZ, Yao XP, Ding J, Wang X. Idiopathic basal ganglia calcification associated with new MYORG mutation site: A case report. World J Clin Cases 2021; 9(24): 7169-7174 [PMID: 34540974 DOI: 10.12998/wjcc.v9.i24.7169]
Corresponding Author of This Article
Jing Ding, MD, Doctor, Department of Neurology, Zhongshan Hospital, Fudan University, No. 180 Fenglin Road, Shanghai 200032, China. ding.jing@zs-hospital.sh.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. 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 byNational 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/
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
Abstract
BACKGROUND
Idiopathic basal ganglia calcification (IBGC) is a neurodegenerative disease characterized by symmetrical calcification of basal ganglia and other brain region, also known as Fahr’s disease. It can be sporadic or familial, and there is no definite etiology at present. With the development of neuroimaging, the number of reports of IBGC has increased in recent years. However, due to its hidden onset, diverse clinical manifestations, and low incidence, it is likely to be misdiagnosed or ignored by potential patients and their family.
CASE SUMMARY
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 sites of MYORG, c.1438T>G mutation and c.1271_1272 TGGTGCGC insertion mutation. He was finally diagnosed with IBGC.
CONCLUSION
It is important to detect MYORG mutation when IBGC is suspected, especially in those without an obvious family history, for better understanding of the underlying mechanism and identifying potential treatments.
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.
