Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 26, 2019; 7(24): 4355-4365
Published online Dec 26, 2019. doi: 10.12998/wjcc.v7.i24.4355
Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature
Sai-Nan Chen, Yu-Qing Wang, Chuang-Li Hao, Yan-Hong Lu, Wu-Jun Jiang, Chun-Yan Gao, Min Wu
Sai-Nan Chen, Yu-Qing Wang, Chuang-Li Hao, Yan-Hong Lu, Wu-Jun Jiang, Chun-Yan Gao, Min Wu, Department of Respiratory Medicine, Children’s Hospital of Soochow University, Suzhou 215000, Jiangsu Province, China
Author contributions: Chen SN wrote the main manuscript text; Hao CL and Wang YQ designed the study and revised the manuscript; Jiang WJ and Lu YH carried out the initial analyses; Sun HQ performed the bronchoscopy and microbiological detection; Gao CY and Wu M performed the data collection. All authors read and approved the final manuscript.
Supported by the National Natural Science Foundation of China, No. 81573167; Science and Technology Project of Jiangsu, No. BE2017657.
Informed consent statement: Written informed consent was obtained from the parents of the patient.
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 which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: Yu-Qing Wang, MD, Chief Doctor, Department of Respiratory Medicine, Children’s Hospital of Soochow University, No. 303, Jingde Road, Suzhou 215000, Jiangsu Province, China. wang_yu_qing@126.com
Telephone: +86-512-67788313 Fax: +86-512-67786316
Received: September 9, 2019
Peer-review started: September 9, 2019
First decision: November 11, 2019
Revised: November 22, 2019
Accepted: November 27, 2019
Article in press: November 27, 2019
Published online: December 26, 2019
Abstract
BACKGROUND

Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a rare genetic disease worldwide. The main mutation is the actin alpha 2 (ACTA2) gene p.R179H. In this paper, we report a Chinese MSMDS patient and systematically review the previous literature.

CASE SUMMARY

Here, we report a 9.6-month-old Chinese girl who was diagnosed with MSMDS based on her history and symptoms, such as recurrent cough, wheezing, and complications with congenital fixed dilated pupils. Chest high-resolution computed tomography revealed inhomogeneous lung transparency, obvious exudative lesions, and some lung fissures that were markedly thickened. Cranial magnetic resonance imaging excluded bleeding and infarction but showed abnormal signals in the centrum ovale majus and bilateral periventricular regions. Echocardiography only showed patent foramen ovale, and no patent ductus arteriosus, pulmonary artery dilatation, or pulmonary hypertension was found. Bronchoscopy indicated moderate bronchial malacia. These examinations in conjunction with the typical eye abnormality suggested a diagnosis of MSMDS, and sequencing of exon 6 of the ACTA2 gene demonstrated the heterozygous mutation c.536G>A, p.R179H. However, her parents’ gene analyses were normal.

CONCLUSION

MSMDS is a rare genetic disease mainly caused by the mutation of the ACTA2 gene p.R179H. Early genetic diagnosis should be performed for children presenting with congenital fixed dilated pupils and patent ductus arteriosus. During the process of diagnosis and treatment, clinicians should be on high alert for cerebrovascular, cardiovascular, and pulmonary complications.

Keywords: Multisystem smooth muscle dysfunction syndrome, Gene mutation, Congenital mydriasis, Patent ductus arteriosus, Case report

Core tip: Multisystem smooth muscle dysfunction syndrome (MSMDS) is a genetic disease that is clinically characterized by dysfunction of the smooth muscle throughout the whole body, leading to congenital fixed dilated pupils, patent ductus arteriosus, aortic and cerebrovascular disease, hypotonic bladder, intestinal hypoperistalsis, and pulmonary hypertension. MSMDS is rare in Chinese individuals. It is mostly caused by a p.R179H mutation in the actin alpha 2 gene worldwide. In the present study, we report a heterozygous mutation c.536G>A, p. R179H in a Chinese infant with MSMDS and describe the clinical characteristics. In addition, we further review the literature regarding MSMDS cases from the 1980s to 2018.