Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 6, 2020; 8(1): 217-221
Published online Jan 6, 2020. doi: 10.12998/wjcc.v8.i1.217
Clinical characteristics on manifestation and gene mutation of a transient neonatal cyanosis: A case report
Jing Yuan, Xue-Ping Zhu
Jing Yuan, Xue-Ping Zhu, Department of Neonatology, Children’s Hospital of Soochow University, Suzhou 215025, Jiangsu Province, China
Author contributions: Yuan J and Zhu XP wrote and edited the final manuscript; both authors have read and approved the final manuscript.
Supported by National Natural Science Foundation of China, No. 81771626.
Supported by National Natural Science Foundation of China, No. 81771626.
Informed consent statement: Written informed consent was obtained from the patient’s legal guardian(s) for publication of this case report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest in relation to this manuscript.
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: Xue-Ping Zhu, MD, Chief Doctor, Department of Neonatology, Children’s Hospital of Soochow University, 92 Zhongnan Street, Industrial Park, Suzhou 215025, Jiangsu Province, China. zhuxueping4637@hotmail.com
Received: September 30, 2019
Peer-review started: September 30, 2019
First decision: October23, 2019
Revised: November 16, 2019
Accepted: November 30, 2019
Article in press: November 30, 2019
Published online: January 6, 2020
Abstract
BACKGROUND

We analyzed the main features of an infant diagnosed with temporary neonatal cyanosis in order to strengthen our understanding of the disease.

CASE SUMMARY

We report a patient diagnosed with temporary neonatal cyanosis. The main clinical characteristics, gene mutation and treatment are discussed and a review of related literature was conducted. The neonate aged 1 d and 5 h was admitted to hospital due to cyanosis after birth. The main clinical manifestation was cyanosis, which was not improved by auxiliary ventilation and the patient showed no obvious shortness of breath or methemoglobinemia. Gene mutation analysis showed a heterozygous c.190C>T mutation in the HBG2 gene associated with transient neonatal cyanosis, which was derived from his mother. Symptomatic supportive treatment was given for 2 mo. The neonate was discharged and gradually improved with oral administration of vitamin C and vitamin B2 for 2 wk.

CONCLUSION

There is no special treatment for temporary neonatal cyanosis caused by heterozygous mutation of the HBG2 gene.

Keywords: Temporary neonatal cyanosis, HBG2, Genetic mutation, Methemoglobinemia, Cyanosis, Case report

Core tip: We report a case diagnosed with temporary neonatal cyanosis. The main characteristics of the clinical manifestations and gene mutation, and treatments were assessed and a review of the related literature was performed, which may help to improve the understanding of the disease.