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
Processing time: 231 Days and 6.9 Hours
Abstract
BACKGROUND

ACTA2 gene is a specific gene that encodes actin α2. Multisystem smooth muscle dysfunction syndrome (MSMDS) is a multisystem disease characterized by aortic and cerebrovascular lesions caused by ACTA2 gene mutations. There have been many reports of cardiac, pulmonary and cerebrovascular lesions caused by MSMDS; however, few studies have focused on seizures caused by MSMDS.

CASE SUMMARY

Our patient was a girl aged 7 years and 8 mo with recurrent cough, asthma and seizures for 7 years. She was diagnosed with severe pneumonia, congenital heart disease, cardiac insufficiency, and malnutrition in the local hospital. Cardiac ultrasonography revealed congenital heart disease, patent ductus arteriosus (with a diameter of 0.68 cm), left coronary arteriectasis, patent oval foramen (0.12 cm), tricuspid and pulmonary regurgitation, and pulmonary hypertension. Cerebral magnetic resonance imaging and magnetic resonance angiography indicated stiffness in the brain vessels, together with multiple aberrant signaling shadows in bilateral paraventricular regions. A heterozygous mutation (c.536G>A) was identified in the ACTA2 gene, resulting in generation of p.R179H. Finally, the girl was diagnosed with MSMDS combined with epilepsy. The patient had 4 episodes of seizures before treatment, and no onset of seizure was reported after oral administration of sodium valproate for 1 year.

CONCLUSION

MSMDS has a variety of clinical manifestations and unique cranial imaging features. Cerebrovascular injury and white matter injury may lead to seizures. Gene detection can confirm the diagnosis and prevent missed diagnosis or misdiagnosis.

Keywords: 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.