Copyright
©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 6, 2023; 11(10): 2254-2259
Published online Apr 6, 2023. doi: 10.12998/wjcc.v11.i10.2254
Published online Apr 6, 2023. doi: 10.12998/wjcc.v11.i10.2254
Neonatal hyperinsulinism with an ABCC8 mutation: A case report
Meng-Tong Liu, Hui-Xia Yang, Department of Gynecology and Obstetrics, Peking University First Hospital, Beijing 100034, China
Author contributions: Liu MT contributed to manuscript writing and editing, data collection, and data analysis; Yang HX contributed to conceptualization and supervision; all authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patients for the publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
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: Hui-Xia Yang, PhD, Professor, Department of Gynecology and Obstetrics, Peking University First Hospital, No. 1 Xi’anmen Street, Beijing 100034, China. yanghuixia@bjmu.edu.cn
Received: October 13, 2022
Peer-review started: October 13, 2022
First decision: December 13, 2022
Revised: January 16, 2023
Accepted: February 15, 2023
Article in press: February 15, 2023
Published online: April 6, 2023
Peer-review started: October 13, 2022
First decision: December 13, 2022
Revised: January 16, 2023
Accepted: February 15, 2023
Article in press: February 15, 2023
Published online: April 6, 2023
Core Tip
Core Tip: Neonatal hyperinsulinemia can have multiple causes. Persistent hypoglycemia caused by a genetic mutation is difficult to correct by conventional glucose and hydrocortisone infusion treatments, which may lead to adverse outcomes. In this case, the newborn had a family history of hypoglycemia and hyperinsulinism, was exposed to perinatal stress, and exhibited a mutation locus in the ABCC8 gene in exon 8 (c.1257T>G), which has not been previously reported. With diazoxide treatment, the child recovered well, and family genetic examinations showed a good prognosis.