Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 16, 2023; 11(11): 2452-2456
Published online Apr 16, 2023. doi: 10.12998/wjcc.v11.i11.2452
Aicardi-Goutières syndrome type 7 in a Chinese child: A case report
Shuang-Zhu Lin, Jing-Jing Yang, Tian-Long Xie, Jia-Yi Li, Jia-Qi Ma, Si Wu, Na Wang, Yong-Ji Wang
Shuang-Zhu Lin, Jing-Jing Yang, Tian-Long Xie, Yong-Ji Wang, Diagnosis and Treatment Center for Children, Affiliated Hospital of Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China
Jia-Yi Li, Jia-Qi Ma, Si Wu, Na Wang, College of Traditional Chinese Medicine, Changchun University of Chinese Medicine, Changchun 130017, Jilin Province, China
Author contributions: Lin SZ wrote the manuscript; Yang JJ and Xie TL analyzed the data; Li JY, Ma JQ, Wu S, Wang N contributed to data collation; Wang YJ provided the medical records; all authors approved the final version of the manuscript to be published.
Informed consent statement: Informed consent has been obtained with the support of the child's family.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Yong-Ji Wang, MD, Professor, Diagnosis and Treatment Center for Children, Affiliated Hospital of Changchun University of Chinese Medicine, No. 185 Shenzhen Street, Nanguan Economic and Technological Development Zone, Changchun 130021, Jilin Province, China. 18943188651@189.cn
Received: August 13, 2022
Peer-review started: August 13, 2022
First decision: November 11, 2022
Revised: February 22, 2023
Accepted: March 17, 2023
Article in press: March 17, 2023
Published online: April 16, 2023
Processing time: 236 Days and 5.2 Hours
Core Tip

Core Tip: We report a 5-year-old girl with Aicardi-Goutières syndrome type 7. The clinical characteristics included postnatal height and weight retardation, delayed language development, brain atrophy, convulsions, and growth hormone deficiency. Whole exome test showed c.1093A>G (p.Lys365Glu) and heterozygous mutation in IFIH1 gene, and the mutation source was her father. This report provides a molecular basis for etiological diagnosis and treatment of the child, as well as for genetic counseling for the pedigree.