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Updated: Nov 8, 2025
Multidisciplinary Approach to Obesity Management: A Case Report
Published on: May 30, 2025
Melatonin for an obese child with MC4R gene variant showing epilepsy and disordered sleep: A case report
Wen-Rong Ge1, Lin Wan2, Guang Yang3
1Department of Pediatrics, Beijing Friendship Hospital, Capital Medical University, Beijing 100000, China.
Insights
Melanocortin 4 receptor (MC4R) gene variants can cause obesity, sleep disorders, and epilepsy. Melatonin adjuvant therapy effectively treated these symptoms in a pediatric case.
Area of Science:
- Genetics
- Neuroscience
- Endocrinology
Background:
- Obesity is frequently linked to mutations in the melanocortin 4 receptor (MC4R) gene.
- MC4R gene abnormalities are seldom associated with neurological conditions like epilepsy or sleep disorders.
Observation:
- A pediatric case presented with obesity, disordered sleep, and abnormal facial movements, linked to a heterozygous MC4R variant (c.494G>A, p.Arg165Gln).
- Diagnosis revealed a sleep disorder and epilepsy, with a distorted melatonin rhythm and epileptic discharges on electroencephalography.
- Initial antiepileptic drug treatment was ineffective, and the sleep disorder worsened.
Findings:
- Adjuvant melatonin therapy led to decreased BMI, resolved sleep disturbances, and controlled seizures.
- Post-treatment electroencephalography normalized, and a typical melatonin rhythm was restored.
Implications:
- MC4R gene abnormalities may play a role in the pathogenesis of sleep disorders and epilepsy beyond obesity.
- Melatonin shows potential as an effective adjuvant therapy for managing these MC4R-associated symptoms.
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.
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