Case Report
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 16, 2024; 12(14): 2445-2450
Published online May 16, 2024. doi: 10.12998/wjcc.v12.i14.2445
Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report
Jing Yuan, Xiang-Ming Yan
Jing Yuan, Department of Pediatric, Children’s Hospital of Soochow University, Suzhou 215025, Jiangsu Province, China
Xiang-Ming Yan, Department of Surgery, Children's Hospital of Soochow University, Suzhou 215000, Jiangsu Province, China
Author contributions: Yuan J analyzed the data and wrote the paper; Yan XM checked and audited the paper.
Supported by The Suzhou Science and Technology Development Plan Guiding Project, No. SZSYYXH-2023-YB5; The Suzhou Science and Technology Development Plan Project, No. SKY2023002; and The Suzhou Key Laboratory of Children's Structural Deformities, No. SZS2022018.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
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: Xiang-Ming Yan, MD, Chief Doctor, Department of Surgery, Children's Hospital of Soochow University, No. 92 Zhong Nan Street, Industrial Park, Suzhou 215000, Jiangsu Province, China. yxmsz2003@163.com
Received: February 7, 2024
Peer-review started: February 7, 2024
First decision: March 2, 2024
Revised: March 8, 2024
Accepted: March 28, 2024
Article in press: March 28, 2024
Published online: May 16, 2024
Processing time: 88 Days and 5.1 Hours
Core Tip

Core Tip: We analyzed the case of a neonate who appeared with only elevated creatine kinase (CK) and eventually was discharged after supportive treatment. The age of admission was 18 d, and the increased CK did not improve significantly after prolonged treatment with creatine and vitamin C. Whole exome sequencing identified the mutation of c.715C>G on LAMA2 in the newborn, which is associated with clinical phenotype.