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10/15/2021 9:59:38 AM | Browse: 203 | Download: 318
Publication Name World Journal of Clinical Cases
Manuscript ID 60505
Country/Territory China
Received
2021-02-26 02:54
Peer-Review Started
2021-02-26 02:57
To Make the First Decision
Return for Revision
2021-07-08 03:29
Revised
2021-07-19 14:31
Second Decision
2021-09-08 03:00
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-09-08 10:24
Articles in Press
2021-09-08 10:24
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2021-10-08 07:35
Publish the Manuscript Online
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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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
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
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
Full Article (PDF) WJCC-9-8789.pdf
Full Article (Word) WJCC-9-8789.docx
Manuscript File 60505_Auto_Edited.docx
Answering Reviewers 60505-Answering reviewers.pdf
Audio Core Tip 60505-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 60505-Conflict-of-interest statement.pdf
Copyright License Agreement 60505-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 60505-Grant application form(s).pdf
Signed Informed Consent Form(s) or Document(s) 60505-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 60505-Language certificate.pdf
Peer-review Report 60505-Peer-review(s).pdf
Scientific Editor Work List 60505-Scientific editor work list.pdf