Ge WR, Wan L, Yang G. Melatonin for an obese child with MC4R gene variant showing epilepsy and disordered sleep: A case report. World J Clin Cases 2021; 9(11): 2688-2695 [PMID: 33889637 DOI: 10.12998/wjcc.v9.i11.2688]
Corresponding Author of This Article
Guang Yang, PhD, Professor, Department of Pediatrics, The First Medical Center of Chinese PLA General Hospital, No. 28 Fuxing Road, Haidian District, Beijing 100853, China. yangguang74@301hospital.com.cn
Research Domain of This Article
Neurosciences
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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/
World J Clin Cases. Apr 16, 2021; 9(11): 2688-2695 Published online Apr 16, 2021. doi: 10.12998/wjcc.v9.i11.2688
Melatonin for an obese child with MC4R gene variant showing epilepsy and disordered sleep: A case report
Wen-Rong Ge, Lin Wan, Guang Yang
Wen-Rong Ge, Department of Pediatrics, Beijing Friendship Hospital, Capital Medical University, Beijing 100000, China
Lin Wan, Guang Yang, Department of Pediatrics, The First Medical Center of Chinese PLA General Hospital, Beijing 100853, China
Author contributions: Ge WR, Wan L and Y G designed the research study; Ge WR and Wan L performed the research; Ge WR contributed to the analytic tools; Ge WR analyzed the data and wrote the manuscript; All authors have read and approved the final manuscript.
Supported byNational Natural Science Foundation of China, No. 81671279; and Big Data and Artificial Intelligence Research and Development Project of the Chinese PLA General Hospital, No. 2019MBD-004.
Informed consent statement: The family were informed of the purpose of the study and provided written informed consent for the publication of this article. The study was conducted in accordance with the Declaration of Helsinki, and approved by the ethics committee of the First Medical Center of the PLA General Hospital (Beijing, China).
Conflict-of-interest statement: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential 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 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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Guang Yang, PhD, Professor, Department of Pediatrics, The First Medical Center of Chinese PLA General Hospital, No. 28 Fuxing Road, Haidian District, Beijing 100853, China. yangguang74@301hospital.com.cn
Received: December 18, 2020 Peer-review started: December 18, 2020 First decision: January 17, 2021 Revised: January 18, 2021 Accepted: February 1, 2021 Article in press: February 1, 2021 Published online: April 16, 2021 Processing time: 102 Days and 1 Hours
Abstract
BACKGROUND
Abnormalities in the melanocortin receptor 4 (MC4R) gene often lead to obesity, but are rarely associated with other conditions such as epilepsy and sleep disorder.
CASE SUMMARY
Here, we present a case of a male obese child with a heterozygous variant in MC4R (c.494G>A, p.Arg165Gln) inherited from his father, who presented with disordered sleep and abnormal facial movements. Examination through melatonin rhythm testing and electroencephalography led to a diagnosis of sleep disorder and epilepsy, as his melatonin rhythm was markedly distorted and the electroencephalography revealed epileptic discharges. He received treatment with an antiepileptic drug; however, the therapy was ineffective and the sleep disorder appeared to be deteriorating. Subsequently, we initiated adjuvant treatment with melatonin. Upon re-examination, his body mass index had decreased, the sleep disturbance had resolved, and his seizures were well controlled. Electro-encephalography review was normal, and a typical melatonin rhythm was restored.
CONCLUSION
We concluded that, in addition to causing obesity, abnormalities in the MC4R gene may contribute to the development of sleep disorders and epilepsy, and that melatonin can be used as an adjuvant therapy to alleviate these symptoms.
Core Tip: Numerous reports suggest that abnormalities of the melanocortin receptor 4 (MC4R) gene may cause obesity, but are rarely associated with other conditions. The case presented in our manuscript involved a male obese child with a heterozygous variant in MC4R (c.494G>A, p.Arg165Gln) inherited from his father, who presented with epilepsy, sleep disordered and his melatonin rhythm was markedly distorted. This is the first report of the combination of these symptoms in a patient with an MC4R variant. Antiepileptic drug was ineffective and the sleep disorder appeared to be deteriorating. The use of melatonin relieved all his symptoms, and even the electroencephalography review was normal, and a typical melatonin rhythm was restored. We hope that our experience can help the early diagnosis and treatment of this condition.
