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10/15/2021 9:59:38 AM | Browse: 371 | Download: 868
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Received |
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2021-02-26 02:54 |
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Peer-Review Started |
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2021-02-26 02:57 |
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To Make the First Decision |
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Return for Revision |
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2021-07-08 03:29 |
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Revised |
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2021-07-19 14:31 |
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Second Decision |
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2021-09-08 03:00 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2021-09-08 10:24 |
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Articles in Press |
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2021-09-08 10:24 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2021-10-08 07:35 |
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Publish the Manuscript Online |
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2021-10-15 09:45 |
| ISSN |
2307-8960 (online) |
| 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/ |
| Copyright |
© The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Pediatrics |
| Manuscript Type |
Case Report |
| Article Title |
ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures: A case report and review of literature
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Wen-Xian Yang, Hang-Hu Zhang, Jia-Ni Hu, Li Zhao, Yan-Yun Li and Xiao-Li Shao |
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Zhejiang Medical and Health Science and Technology Program |
2020KY327 |
| Zhejiang Medical and Health Science and Technology Program |
2017KY660 |
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| 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 |
| Key Words |
Multi-systemic smooth muscle dysfunction syndrome; ACTA2 gene; Seizures; Gene detection; Case report |
| 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. |
| Publish Date |
2021-10-15 09:45 |
| Citation |
Yang WX, Zhang HH, Hu JN, Zhao L, Li YY, Shao XL. ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures: A case report and review of literature. World J Clin Cases 2021; 9(29): 8789-8796 |
| URL |
https://www.wjgnet.com/2307-8960/full/v9/i29/8789.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v9.i29.8789 |
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