Suppr超能文献

以吡仑帕奈作为添加抗癫痫药物成功治疗继发于20号环状染色体镶嵌现象的耐药性癫痫发作

Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug.

作者信息

Ling Janet, Yeung Wai Lan, Hon Kam Lun, Lo Ivan F M, Luk Ho-Ming, Fung Cheuk Wing, Leung Alexander K C

机构信息

The Hong Kong Children's Hospital, Kowloon Bay, Hong Kong.

Clinical Genetic Service, Department of Health, HKSAR, Kowloon Bay, Hong Kong.

出版信息

Case Rep Pediatr. 2022 May 26;2022:7414628. doi: 10.1155/2022/7414628. eCollection 2022.

Abstract

We report a girl with drug-resistant seizures, progressive behavioral changes, and cognitive decline. Investigations showed abnormal EEG with frequent high-voltage bifrontotemporal sharp and slow waves, especially during sleep. Seizures were difficult to control, despite the usage of various antiepileptic drugs. Perampanel as an add-on antiepileptic drug appeared efficacious. Due to the recognizable pattern of seizures and EEG findings, a karyotype study was performed which revealed 46 chromosomes with a ring 20 chromosome mosaicism. Ring 20 chromosome is associated with drug-resistant refractory seizures, cognitive decline, and behavioral problems. This case highlights the difficulty and challenge faced in managing drug-resistant refractory seizures associated with ring 20 chromosome. While ring 20 chromosome is often underdiagnosed, one should have a high index of awareness and suspicion of such rare epilepsy syndrome, so that an early diagnosis can be made.

摘要

我们报告了一名患有耐药性癫痫发作、进行性行为改变和认知衰退的女孩。检查显示脑电图异常,频繁出现高电压双侧额颞部尖波和慢波,尤其是在睡眠期间。尽管使用了各种抗癫痫药物,但癫痫发作仍难以控制。作为附加抗癫痫药物的吡仑帕奈似乎有效。由于癫痫发作模式和脑电图结果可识别,进行了核型研究,结果显示46条染色体,伴有20号环状染色体嵌合体。20号环状染色体与耐药性难治性癫痫发作、认知衰退和行为问题有关。该病例凸显了在管理与20号环状染色体相关的耐药性难治性癫痫发作时所面临的困难和挑战。虽然20号环状染色体常常诊断不足,但对于这种罕见的癫痫综合征,人们应保持高度的警惕性和怀疑态度,以便能够早期诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8748/9162848/f9a67132cf66/CRIPE2022-7414628.001.jpg

相似文献

1
Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug.
Case Rep Pediatr. 2022 May 26;2022:7414628. doi: 10.1155/2022/7414628. eCollection 2022.
2
Improvement of epilepsy with lacosamide in a patient with ring chromosome 20 syndrome.
Brain Dev. 2020 Jun;42(6):473-476. doi: 10.1016/j.braindev.2020.03.003. Epub 2020 Apr 1.
3
[Ring (20) chromosome epileptic syndrome].
Brain Nerve. 2015 May;67(5):585-97. doi: 10.11477/mf.1416200184.
5
Ring 20 chromosome syndrome with epilepsy and dysmorphic features: a case report.
Epilepsia. 2001 Dec;42(12):1607-10. doi: 10.1046/j.1528-1157.2001.29700.x.
6
Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome.
Brain. 1997 Jun;120 ( Pt 6):939-53. doi: 10.1093/brain/120.6.939.
7
Electro-clinical analysis of epilepsy patients with generalized seizures on adjunctive perampanel treatment.
Epilepsy Res. 2020 Sep;165:106378. doi: 10.1016/j.eplepsyres.2020.106378. Epub 2020 May 31.
8
Ring chromosome 20.
Eur J Med Genet. 2012 May;55(5):381-7. doi: 10.1016/j.ejmg.2012.02.004. Epub 2012 Feb 22.
10
Retrospective study of perampanel efficacy and tolerability in myoclonic seizures.
Acta Neurol Scand. 2018 Aug;138(2):122-129. doi: 10.1111/ane.12931. Epub 2018 Mar 24.

引用本文的文献

1
Long-term seizure and psychosocial outcomes of patients with ring chromosome 20 syndrome: A cohort study of 47 cases.
Epilepsia. 2025 Jul;66(7):2444-2453. doi: 10.1111/epi.18370. Epub 2025 Mar 22.

本文引用的文献

3
Specificity of electroclinical features in the diagnosis of ring chromosome 20.
Epilepsy Behav. 2018 Mar;80:215-220. doi: 10.1016/j.yebeh.2017.12.001. Epub 2018 Feb 3.
4
Refractory and severe status epilepticus in a patient with ring chromosome 20 syndrome.
Brain Dev. 2016 Sep;38(8):746-9. doi: 10.1016/j.braindev.2016.02.013. Epub 2016 Mar 12.
5
Perampanel: A Review in Drug-Resistant Epilepsy.
Drugs. 2015 Sep;75(14):1657-68. doi: 10.1007/s40265-015-0465-z.
6
Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome.
Epilepsy Behav. 2015 Apr;45:155-63. doi: 10.1016/j.yebeh.2015.02.002. Epub 2015 Apr 3.
7
Ring chromosome 20.
Eur J Med Genet. 2012 May;55(5):381-7. doi: 10.1016/j.ejmg.2012.02.004. Epub 2012 Feb 22.
8
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.
J Med Genet. 2011 Jan;48(1):1-9. doi: 10.1136/jmg.2010.080382. Epub 2010 Oct 23.
9
Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children.
Epilepsia. 2009 Nov;50(11):2420-7. doi: 10.1111/j.1528-1167.2009.02176.x. Epub 2009 Jul 2.
10
Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome.
Epileptic Disord. 2008 Dec;10(4):254-9. doi: 10.1684/epd.2008.0212.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验