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褪黑素治疗一名患有基因变异且伴有癫痫和睡眠障碍的肥胖儿童:病例报告

Melatonin for an obese child with gene variant showing epilepsy and disordered sleep: A case report.

作者信息

Ge Wen-Rong, Wan Lin, Yang Guang

机构信息

Department of Pediatrics, Beijing Friendship Hospital, Capital Medical University, Beijing 100000, China.

Department of Pediatrics, The First Medical Center of Chinese PLA General Hospital, Beijing 100853, China.

出版信息

World J Clin Cases. 2021 Apr 16;9(11):2688-2695. doi: 10.12998/wjcc.v9.i11.2688.

Abstract

BACKGROUND

Abnormalities in the () 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 (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 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.

摘要

背景

()基因异常常导致肥胖,但很少与癫痫和睡眠障碍等其他病症相关。

病例摘要

在此,我们报告一例男性肥胖儿童病例,其从父亲那里遗传了(c.494G>A,p.Arg165Gln)杂合变异,该患儿出现睡眠紊乱和面部异常运动。通过褪黑素节律测试和脑电图检查,诊断为睡眠障碍和癫痫,因为其褪黑素节律明显紊乱,脑电图显示有癫痫放电。他接受了抗癫痫药物治疗;然而,治疗无效,睡眠障碍似乎在恶化。随后,我们开始用褪黑素进行辅助治疗。复查时,他的体重指数下降,睡眠障碍得到解决,癫痫发作得到良好控制。脑电图复查正常,恢复了典型的褪黑素节律。

结论

我们得出结论,除了导致肥胖外,该基因异常可能促成睡眠障碍和癫痫的发生,并且褪黑素可作为辅助治疗来缓解这些症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1958/8040176/13a28e8bdb7e/WJCC-9-2688-g001.jpg

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