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20号环状染色体综合征的特征性脑电图表现作为诊断线索。

Characteristic EEG findings in ring 20 syndrome as a diagnostic clue.

作者信息

Kobayashi K, Inagaki M, Sasaki M, Sugai K, Ohta S, Hashimoto T

机构信息

Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, NCNP, Tokyo, Japan.

出版信息

Electroencephalogr Clin Neurophysiol. 1998 Oct;107(4):258-62. doi: 10.1016/s0013-4694(98)00069-8.

DOI:10.1016/s0013-4694(98)00069-8
PMID:9872443
Abstract

OBJECTIVE

To review the EEG features of ring 20 syndrome in two patients and determine the characteristic pattern of this syndrome. The features of our cases and 24 patients reported in the literature will be discussed.

SUBJECTS AND METHODS

Report of two patients and review of literature.

RESULTS

The two patients had intractable epilepsy since childhood. Their clinical seizures were mostly complex partial seizures. Often the patients seizures were of prolonged duration. Ictal EEG revealed characteristic slow waves, and sharp waves. The slow waves were (1) usually synchronous high-voltage slow waves with or without a spike component predominantly in the frontal and frontopolar areas, (2) sometimes showed a change in frequency every several seconds, (3) continued for a long period, and (4) easily spread diffusely. The sharp waves were 5-6 Hz irregular and diffuse discontinuous sharp waves, and sometimes appeared predominantly in the centroparietal area. The clinical seizure pattern and EEG findings were similar in the 24 published cases.

CONCLUSIONS

These EEG findings may be a characteristic feature of ring 20 syndrome and thus may be useful as a diagnostic clue.

摘要

目的

回顾两例环形20综合征患者的脑电图特征,并确定该综合征的特征性模式。将讨论我们病例的特征以及文献报道的24例患者的情况。

对象与方法

两例患者的报告及文献复习。

结果

这两名患者自幼患有难治性癫痫。他们的临床发作大多为复杂部分性发作。患者发作常常持续时间较长。发作期脑电图显示特征性慢波和棘波。慢波为:(1)通常为同步性高电压慢波,有或无棘波成分,主要位于额叶和额极区;(2)有时每隔几秒频率会发生变化;(3)持续很长时间;(4)容易广泛扩散。棘波为5 - 6Hz不规则、弥漫性不连续棘波,有时主要出现在中央顶叶区。24例已发表病例的临床发作模式和脑电图表现相似。

结论

这些脑电图表现可能是环形20综合征的特征性表现,因此可作为诊断线索。

相似文献

1
Characteristic EEG findings in ring 20 syndrome as a diagnostic clue.20号环状染色体综合征的特征性脑电图表现作为诊断线索。
Electroencephalogr Clin Neurophysiol. 1998 Oct;107(4):258-62. doi: 10.1016/s0013-4694(98)00069-8.
2
[A case of epilepsy with ring chromosome 20 syndrome].[一例伴有20号环状染色体综合征的癫痫病例]
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Long-term seizure and psychosocial outcomes of patients with ring chromosome 20 syndrome: A cohort study of 47 cases.20号环状染色体综合征患者的长期癫痫发作及社会心理结局:一项47例病例的队列研究。
Epilepsia. 2025 Jul;66(7):2444-2453. doi: 10.1111/epi.18370. Epub 2025 Mar 22.
2
Status Epilepticus in Chromosomal Disorders Associated with Epilepsy: A Systematic Review.染色体疾病相关性癫痫持续状态:系统评价。
Genes (Basel). 2023 Jan 23;14(2):299. doi: 10.3390/genes14020299.
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Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug.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
Case Rep Pediatr. 2022 May 26;2022:7414628. doi: 10.1155/2022/7414628. eCollection 2022.
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Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes.20号环状染色体综合征:遗传学、临床特征及重叠表型
Front Neurol. 2020 Dec 8;11:613035. doi: 10.3389/fneur.2020.613035. eCollection 2020.
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J Autism Dev Disord. 2012 Jun;42(6):1146-8. doi: 10.1007/s10803-011-1346-2.
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Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.对 8 名 ring 20 染色体综合征患者进行的遗传学研究。
BMC Med Genet. 2010 Oct 12;11:146. doi: 10.1186/1471-2350-11-146.