Poirier-Bienvenu神经发育综合征伴非癫痫发作、语音恐惧症和自闭症谱系障碍1例

Mako Miwa , Mina Yokoyama , Rintaro Ono , Miwa Ozawa , Masaaki Ogihara , Kenjiro Kosaki
{"title":"Poirier-Bienvenu神经发育综合征伴非癫痫发作、语音恐惧症和自闭症谱系障碍1例","authors":"Mako Miwa ,&nbsp;Mina Yokoyama ,&nbsp;Rintaro Ono ,&nbsp;Miwa Ozawa ,&nbsp;Masaaki Ogihara ,&nbsp;Kenjiro Kosaki","doi":"10.1016/j.bdcasr.2025.100080","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is caused by mutations in <em>CSNK2B</em> and is characterized by intellectual disability (ID) and early-onset epilepsy.</div></div><div><h3>Case</h3><div>The patient was delivered at term with no perinatal complications. Although early development was typical, delayed walking prompted a referral. Various screening tests identified no physical or laboratory abnormalities, except for traits of autism spectrum disorder (ASD). At approximately three years of age, the patient began experiencing recurrent episodes of unresponsiveness, characterized by a vacant stare. Ictal electroencephalography (EEG) revealed right temporal spike waves spreading bilaterally, leading to a diagnosis of focal onset epileptic seizures. During the same period, paroxysmal twitch-like and gross-like movements were observed. These movements occurred without epileptic discharges, leading to a diagnosis of non-epileptic seizures (NES). The patient was diagnosed with ASD based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria.</div><div>Subsequently, it was noted that the patient exhibited twitch-like and gross-like movements with fearful facial expressions when watching specific television programs, accompanied by phonophobia. These episodes were considered psychogenic NES (PNES), likely attributable to auditory hypersensitivity associated with ASD. The NES episodes resolved with avoidance of these television programs. At nine years of age, next-generation sequencing identified a heterozygous <em>CSNK2B</em> mutation, confirming the diagnosis of POBINDS. Focal onset epileptic seizures were well controlled with valproic acid and clobazam.</div></div><div><h3>Discussion</h3><div>This case highlights a patient with POBINDS presenting with ASD and NES due to sound hypersensitivity. The coexistence of epileptic seizures and NES in individuals with POBINDS warrants further investigation.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100080"},"PeriodicalIF":0.0000,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A case of Poirier-Bienvenu neurodevelopmental syndrome with non-epileptic seizures, phonophobia, and autism spectrum disorder\",\"authors\":\"Mako Miwa ,&nbsp;Mina Yokoyama ,&nbsp;Rintaro Ono ,&nbsp;Miwa Ozawa ,&nbsp;Masaaki Ogihara ,&nbsp;Kenjiro Kosaki\",\"doi\":\"10.1016/j.bdcasr.2025.100080\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><div>Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is caused by mutations in <em>CSNK2B</em> and is characterized by intellectual disability (ID) and early-onset epilepsy.</div></div><div><h3>Case</h3><div>The patient was delivered at term with no perinatal complications. Although early development was typical, delayed walking prompted a referral. Various screening tests identified no physical or laboratory abnormalities, except for traits of autism spectrum disorder (ASD). At approximately three years of age, the patient began experiencing recurrent episodes of unresponsiveness, characterized by a vacant stare. Ictal electroencephalography (EEG) revealed right temporal spike waves spreading bilaterally, leading to a diagnosis of focal onset epileptic seizures. During the same period, paroxysmal twitch-like and gross-like movements were observed. These movements occurred without epileptic discharges, leading to a diagnosis of non-epileptic seizures (NES). The patient was diagnosed with ASD based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria.</div><div>Subsequently, it was noted that the patient exhibited twitch-like and gross-like movements with fearful facial expressions when watching specific television programs, accompanied by phonophobia. These episodes were considered psychogenic NES (PNES), likely attributable to auditory hypersensitivity associated with ASD. The NES episodes resolved with avoidance of these television programs. At nine years of age, next-generation sequencing identified a heterozygous <em>CSNK2B</em> mutation, confirming the diagnosis of POBINDS. Focal onset epileptic seizures were well controlled with valproic acid and clobazam.</div></div><div><h3>Discussion</h3><div>This case highlights a patient with POBINDS presenting with ASD and NES due to sound hypersensitivity. The coexistence of epileptic seizures and NES in individuals with POBINDS warrants further investigation.</div></div>\",\"PeriodicalId\":100196,\"journal\":{\"name\":\"Brain and Development Case Reports\",\"volume\":\"3 3\",\"pages\":\"Article 100080\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-05-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Brain and Development Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2950221725000194\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Brain and Development Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2950221725000194","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

pobind是由CSNK2B基因突变引起的神经发育综合征,以智力残疾(ID)和早发性癫痫为特征。病例足月分娩,无围产期并发症。虽然早期发育是典型的,但行走迟缓需要转诊。除了自闭症谱系障碍(ASD)的特征外,各种筛选测试没有发现任何身体或实验室异常。大约三岁时,患者开始出现反复发作的无反应,其特征是眼神茫然。脑电图显示右侧颞突波双侧扩散,诊断为局灶性癫痫发作。在同一时期,观察到阵发性抽搐样和粗大样运动。这些运动发生时没有癫痫性放电,导致诊断为非癫痫性发作(NES)。根据《精神障碍诊断与统计手册》第五版(DSM-5)标准诊断为ASD。随后,注意到患者在观看特定电视节目时表现出抽搐和恶心样的动作,面部表情可怕,并伴有语音恐惧症。这些发作被认为是心因性NES (PNES),可能归因于与ASD相关的听觉超敏反应。NES发作的解决办法是避开这些电视节目。9岁时,新一代测序鉴定出CSNK2B杂合突变,证实了pobinding的诊断。丙戊酸和氯巴唑能很好地控制局灶性癫痫发作。本病例强调了一名pobind患者,由于声音过敏而表现为ASD和NES。在pobind患者中癫痫发作和NES的共存值得进一步研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case of Poirier-Bienvenu neurodevelopmental syndrome with non-epileptic seizures, phonophobia, and autism spectrum disorder

Background

Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is caused by mutations in CSNK2B and is characterized by intellectual disability (ID) and early-onset epilepsy.

Case

The patient was delivered at term with no perinatal complications. Although early development was typical, delayed walking prompted a referral. Various screening tests identified no physical or laboratory abnormalities, except for traits of autism spectrum disorder (ASD). At approximately three years of age, the patient began experiencing recurrent episodes of unresponsiveness, characterized by a vacant stare. Ictal electroencephalography (EEG) revealed right temporal spike waves spreading bilaterally, leading to a diagnosis of focal onset epileptic seizures. During the same period, paroxysmal twitch-like and gross-like movements were observed. These movements occurred without epileptic discharges, leading to a diagnosis of non-epileptic seizures (NES). The patient was diagnosed with ASD based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria.
Subsequently, it was noted that the patient exhibited twitch-like and gross-like movements with fearful facial expressions when watching specific television programs, accompanied by phonophobia. These episodes were considered psychogenic NES (PNES), likely attributable to auditory hypersensitivity associated with ASD. The NES episodes resolved with avoidance of these television programs. At nine years of age, next-generation sequencing identified a heterozygous CSNK2B mutation, confirming the diagnosis of POBINDS. Focal onset epileptic seizures were well controlled with valproic acid and clobazam.

Discussion

This case highlights a patient with POBINDS presenting with ASD and NES due to sound hypersensitivity. The coexistence of epileptic seizures and NES in individuals with POBINDS warrants further investigation.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信