ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures:A case report and review of literature

作     者：Wen-Xian Yang Hang-Hu Zhang Jia-Ni Hu Li Zhao Yan-Yun Li Xiao-Li Shao 

作者机构：Department of PediatricsShaoxing University School of MedicineShaoxing 312000Zhejiang ProvinceChina Department of PediatricsShaoxing Peoples’HospitalThe First Affiliated Hospital of Shaoxing UniversityShaoxing 312000Zhejiang ProvinceChina Department of RadiologyShaoxing Peoples’HospitalThe First Affiliated Hospital of Shaoxing UniversityShaoxing 312000Zhejiang ProvinceChina 

出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)

年 卷 期：2021年第9卷第29期

页      面：8789-8796页

核心收录：

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

基　　金：Zhejiang Medical and Health Science and Technology Program No.2020KY327 and No.2017KY660 

主　　题：Multi-systemic smooth muscle dysfunction syndrome ACTA2 gene Seizures Gene detection Case report 

摘      要：BACKGROUND ACTA2 gene is a specific gene that encodes actinα*** smooth muscle dysfunction syndrome(MSMDS)is a multisystem disease characterized by aortic and cerebrovascular lesions caused by ACTA2 gene *** have been many reports of cardiac,pulmonary and cerebrovascular lesions caused by MSMDS;however,few studies have focused on seizures caused by *** SUMMARY Our patient was a girl aged 7 years and 8 mo with recurrent cough,asthma and seizures for 7 *** was diagnosed with severe pneumonia,congenital heart disease,cardiac insufficiency,and malnutrition in the local *** 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 *** 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.536GA)was identified in the ACTA2 gene,resulting in generation of ***,the girl was diagnosed with MSMDS combined with *** patient had 4 episodes of seizures before treatment,and no onset of seizure was reported after oral administration of sodium valproate for 1 *** MSMDS has a variety of clinical manifestations and unique cranial imaging *** injury and white matter injury may lead to *** detection can confirm the diagnosis and prevent missed diagnosis or misdiagnosis.