Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 16, 2021; 9(29): 8789-8796
Published online Oct 16, 2021. doi: 10.12998/wjcc.v9.i29.8789
ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures: A case report and review of literature
Wen-Xian Yang, Hang-Hu Zhang, Jia-Ni Hu, Li Zhao, Yan-Yun Li, Xiao-Li Shao
Wen-Xian Yang, Department of Pediatrics, Shaoxing University School of Medicine, Shaoxing 312000, Zhejiang Province, China
Hang-Hu Zhang, Jia-Ni Hu, Yan-Yun Li, Xiao-Li Shao, Department of Pediatrics, Shaoxing Peoples’ Hospital, The First Affiliated Hospital of Shaoxing University, Shaoxing 312000, Zhejiang Province, China
Li Zhao, Department of Radiology, Shaoxing Peoples’ Hospital, The First Affiliated Hospital of Shaoxing University, Shaoxing 312000, Zhejiang Province, China
Author contributions: Yang WX and Zhang HY reviewed the relevant literature, sorted out the literature data, and made contributions to the drafting of the manuscript; Li YY Hu JN, and Zhao L reviewed the relevant literature and contributed to the drafting of the manuscript; Shao XL reviewed the literature, analyzed and interpreted relevant data, and is responsible for the revision of important parts of the manuscript; All authors issued final approval for the version to be submitted.
Supported by Zhejiang Medical and Health Science and Technology Program, No. 2020KY327 and No. 2017KY660.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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: Xiao-Li Shao, MD, Professor, Department of Pediatrics, Shaoxing Peoples’ Hospital, The First Affiliated Hospital of Shaoxing University, No. 568 Zhongxing North Road, Yuecheng District, Shaoxing 312000, Zhejiang Province, China. nuannuan717@126.com
Received: February 26, 2021
Peer-review started: February 26, 2021
First decision: July 8, 2021
Revised: July 19, 2021
Accepted: September 8, 2021
Article in press: September 8, 2021
Published online: October 16, 2021
Core Tip

Core Tip: Multisystem smooth muscle dysfunction syndrome (MSMDS) is a disease caused by ACTA2 gene mutation. We report a case of MSMDS complicated with epilepsy. Since birth, the child developed several system dysfunctions, including dyspnea, congenital heart disease, and malnutrition. Brain magnetic resonance imaging (MRI) and magnetic resonance angiography showed cerebrovascular stiffness. It was accompanied by multiple abnormal signaling shadows around the bilateral ventricles, which may have been the focus of the seizures. Reviewing the literature and imaging reports, head MRI shows that abnormal signals and vascular malformations should be paid more attention to, which may lead to seizures in older patients.