Published online Apr 16, 2021. doi: 10.12998/wjcc.v9.i11.2688
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
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.
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.
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.