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A case of acute encephalopathy with hyperperfusion detected by arterial spin labelling: Extending spectrum of acute encephalopathy with biphasic seizures and late reduced diffusion 一例动脉自旋标记检测到高灌注的急性脑病:扩展急性脑病的范围,伴有双相癫痫发作和晚期弥散功能减退。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.braindev.2024.09.007
Akito Yoshino, Taku Omata, Kota Abe, Kentaro Sano, Jun-ichi Takanashi

Background

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common encephalopathy syndrome among Japanese children. We report, for the first time, a case of AESD, in which magnetic resonance imaging (MRI) showed no diffusion abnormalities, but hyperperfusion was detected by arterial spin labelling (ASL).

Case report

A previously healthy Japanese 1-year and 5-month-old boy was transferred to our hospital due to a consciousness disorder after >60 min of status epilepticus on the first day of fever. Brain MRI on the first day revealed no abnormal findings. On the fourth day, focal seizures of the left upper and lower limbs were observed. Thereafter, the patient's condition progressed without seizures. Diffusion-weighted imaging (DWI) on day 6 showed no abnormal findings, including a bright tree appearance. However, ASL showed hyperperfusion in the frontoparietal lobes. MRI scans on days 19 and 39 revealed that the hyperperfusion lesions on day 6 had transitioned to hypoperfusion on ASL and displayed high signal intensity on T2-weighted and fluid-attenuated inversion recovery imaging. Cerebral atrophy was also observed. Based on the clinical course and imaging findings during the chronic phase, a diagnosis of AESD was made.

Conclusion

ASL may be more sensitive than DWI for detecting AESD lesions and should be performed in children with suspected AESD.
背景:急性脑病伴双相癫痫发作和晚期弥散减少(AESD)是日本儿童中最常见的脑病综合征。我们首次报道了一例磁共振成像(MRI)未显示弥散异常,但动脉自旋标记(ASL)检测到高灌注的 AESD 病例:病例报告:一名原本健康的一岁零五个月大的日本籍男童在发烧第一天出现癫痫状态超过 60 分钟后因意识障碍转入我院。第一天的脑磁共振成像未发现异常。第四天,患者出现左上下肢局灶性抽搐。此后,患者病情发展,未出现癫痫发作。第 6 天的弥散加权成像(DWI)显示无异常发现,包括明亮的树状外观。然而,ASL显示顶叶前部出现高灌注。第19天和第39天的核磁共振成像扫描显示,第6天的高灌注病灶在ASL上已过渡到低灌注,在T2加权和液体衰减反转恢复成像上显示出高信号强度。同时还观察到脑萎缩。根据慢性期的临床过程和成像结果,诊断为AESD:结论:在检测 AESD 病变方面,ASL 可能比 DWI 更为敏感,应为疑似 AESD 的儿童进行 ASL 检查。
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引用次数: 0
Visualizing changes in cerebral hemodynamics in children with ADHD who have discontinued methylphenidate: A pilot study on using brain function for medication discontinuation decisions 停用哌醋甲酯的多动症儿童脑血流动力学变化可视化:利用脑功能做出停药决定的试点研究。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.braindev.2024.09.004
Koyuru Kurane , Niannian Lin , Ippeita Dan , Hikari Tanaka , Yuki Tsuji , Wakana Ito , Shiho Yanagida , Yukifumi Monden

Objective

This study undertook neuropharmacological research on the clinical course of controlled medication discontinuation to guide practitioners who are considering stopping medications for youths with attention-deficit hyperactivity disorder (ADHD).

Methods

This study analyzed the data for 14 ADHD children (12 male and 2 female) in two datasets: The children prescribed methylphenidate (MPH) were at an initial mean age of 7.5 years (SD = 1.70, range: 6–11) with a mean ADHD-Rating Score (ADHD-RS) of 26.6 (SD = 8.64, range 15–40). The children who discontinued MPH based on clinical judgment were at a mean age of 12.21 years (SD = 2.12, range: 8–15) with a mean ADHD-RS of 15.9 (SD = 6.86, range 5–27). The go/no-go task was used to assess response inhibition, while functional near-infrared spectroscopy (fNIRS) was used to measure cerebral hemodynamics. Oxygenated hemoglobin (Oxy-Hb) values from fNIRS data were analyzed for each subject, focusing on past and current measurements. Baseline was set at 10 s pre-task, with interval means from 4 to 24 s analyzed. One-sample t-tests were used to evaluate brain activity magnitude.

Results

The results of the study demonstrate that the children who had discontinued the medication exhibited activation in specific brain regions including the frontopolar cortex and the right ventrolateral prefrontal cortex. Activation (t = 2.363, p = 0.034, Cohen's d = 0.632) was found especially in the right dorsolateral prefrontal cortex during the performance of the go/no-go task. These activated areas were consistent with those observed in a previous study comparing brain activity during a go/no-go task between children with ADHD and healthy children.

Conclusion

The present study showed differences in cerebral hemodynamics before and after discontinuation of MPH in ADHD children whose ADHD symptoms did not recur after MPH was discontinued. In the near future, further investigations that include control groups will be conducted to demonstrate the effects of MPH prior to discontinuation based on the changes in cerebral blood flow in the right prefrontal cortex, which is involved in behavioral inhibition, as observed in this study. This and future research will facilitate the development of criteria for discontinuing treatment.
研究目的本研究对控制性停药的临床过程进行了神经药理学研究,以指导正在考虑对注意力缺陷多动障碍(ADHD)青少年停药的医生:本研究分析了两个数据集中14名ADHD儿童(12男2女)的数据:处方哌醋甲酯(MPH)的儿童初始平均年龄为 7.5 岁(SD = 1.70,范围:6-11),平均多动症评分(ADHD-RS)为 26.6(SD = 8.64,范围:15-40)。根据临床判断停用 MPH 的儿童平均年龄为 12.21 岁(SD = 2.12,范围:8-15),ADHD-RS 平均值为 15.9(SD = 6.86,范围:5-27)。去/不去任务用于评估反应抑制,功能性近红外光谱(fNIRS)用于测量脑血流动力学。对每个受试者的 fNIRS 数据中的氧合血红蛋白(Oxy-Hb)值进行分析,重点是过去和当前的测量值。基线设定为任务前 10 秒,分析时间间隔为 4 至 24 秒。采用单样本 t 检验来评估大脑活动幅度:研究结果表明,停药儿童的特定脑区表现出激活,包括前额叶皮层和右侧腹外侧前额叶皮层。在进行 "走/不走 "任务时,右侧背外侧前额叶皮层尤其表现出激活(t = 2.363,p = 0.034,Cohen's d = 0.632)。这些被激活的区域与之前一项比较多动症儿童和健康儿童在进行 "走/不走 "任务时大脑活动的研究中观察到的区域一致:本研究显示,停用 MPH 前后,多动症儿童的大脑血流动力学存在差异,停用 MPH 后,多动症症状没有复发。在不久的将来,将根据本研究中观察到的参与行为抑制的右前额叶皮层脑血流的变化,开展包括对照组在内的进一步调查,以证明停用 MPH 之前的影响。这项研究和未来的研究将有助于制定终止治疗的标准。
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引用次数: 0
Cover 封面
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-01 DOI: 10.1016/S0387-7604(24)00149-9
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引用次数: 0
Long-term observation of patients with advanced late-onset Pompe disease undergoing enzyme replacement therapy: A 15-year observation in a single center 对接受酶替代疗法的晚期庞贝病患者的长期观察:单一中心的 15 年观察
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.braindev.2024.07.004
Madoka Mori-Yoshimura , Hotake Takizawa , Atsushi Unuma , Yasushi Oya , Keisuke Yorimoto , Wakana Katsuta , Kenji Miyagi , Noriko Sato , Takatoshi Hara , Yuji Takahashi

Background

There have been few descriptions in the literature on long-term enzyme replacement therapy (ERT) in patients with advanced late-onset Pompe disease (LOPD).

Objectives

This study aimed to assess the efficacy and limitations of ERT in advanced LOPD patients.

Methods

We retrospectively reviewed the clinical courses of patients with advanced LOPD (two juvenile-onset and five adult-onset patients) who were treated with recombinant human alglucosidase alfa to examine improvements achieved with and limitations of ERT until their death or when switching to avalglucosidase alfa occurred.

Results

All patients were non-ambulant and ventilator dependent. The duration of follow-up ranged from 3.7 to 15.0 years (median 9.0 years). All patients reported improvements in their lives during the first two or three years of ERT. Vital capacity was clearly improved in patients with relatively spared respiratory function, although it deteriorated after respiratory complications such as pneumothorax. Pinch and grip power tended to be preserved during the treatment period. Muscle CT revealed progression of atrophy and fatty replacement predominantly in the proximal limb muscles without improvement after ERT. Four patients died due to aspergillosis, respiratory failure, ileus, and sudden death of unknown cause.

Conclusions

Our findings demonstrate that patients undergoing ERT show certain improvements, even in the advanced stage of Pompe disease. Respiratory complications are lethal even during ERT, and early diagnosis and induction of therapy are critical. Muscle wasting progressed more severely in the proximal limbs, even after ERT.
背景:关于晚期庞贝病患者长期接受酶替代疗法(ERT)的文献很少:本研究旨在评估ERT对晚期庞贝病患者的疗效和局限性:我们回顾性分析了接受重组人阿糖苷酶α治疗的晚期LOPD患者(2例幼年发病患者和5例成年发病患者)的临床病程,以研究ERT治疗在患者死亡或改用阿瓦糖苷酶α治疗之前所取得的改善和局限性:所有患者均不能行走,且依赖呼吸机。随访时间从 3.7 年到 15.0 年不等(中位数为 9.0 年)。所有患者都表示,在接受 ERT 的头两三年里,他们的生活有所改善。呼吸功能相对正常的患者的生命容量明显改善,但在出现气胸等呼吸系统并发症后,生命容量有所下降。在治疗期间,患者的捏力和握力趋于保持。肌肉 CT 显示,萎缩和脂肪替代主要发生在四肢近端肌肉,但 ERT 后情况并未改善。四名患者死于曲霉菌病、呼吸衰竭、回肠梗阻和不明原因的猝死:我们的研究结果表明,即使在庞贝氏症晚期,接受 ERT 治疗的患者病情也会得到一定改善。即使在 ERT 期间,呼吸系统并发症也是致命的,因此早期诊断和诱导治疗至关重要。肌肉萎缩在四肢近端进展得更为严重,即使在 ERT 后也是如此。
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引用次数: 0
A nationwide survey of Vici syndrome in Japan 日本维西综合征全国调查。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.braindev.2024.08.001
Ikumi Hori , Toshihiko Iwaki , Emi Sato , Daisuke Ieda , Yutaka Negishi , Ayako Hattori , Shinji Saitoh

Background

Vici syndrome (VICIS) is a congenital disorder characterized by agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive. This study aimed to elucidate the number of patients with VICIS, its clinical characteristics and relevant genetic information in Japan.

Methods

After developing diagnostic criteria for VICIS, we conducted a nationwide questionnaire-based survey of VICIS in Japan. In the initial survey, we investigated the number of VICIS patients who fulfilled definite or probable criteria. The second survey was used to obtain detailed clinical and genetic information of VICIS from institutions that responded to the initial survey.

Results

Clinical information was available for 15 patients (12 definite, three probable). As of October 2023, nine patients (60%) were alive and six (40%) had died. All patients presented with developmental delay, agenesis of the corpus callosum, elevated serum aspartate/alanine aminotransferase, hypopigmentation and hypotonia. Developmental delay was profound. Most patients developed recurrent infection, high-arched palate, epilepsy, failure to thrive, and microcephaly. Cardiomyopathy and cataracts, both initially described as principal features in VICIS, were notably uncommon in our study. Based on the information collected, all 14 patients for whom information was available received home medical care: 11 (79%) received tube feeding, three (21%) required noninvasive ventilation, four (29%) required tracheostomy, and four (29%) required home subcutaneous immunoglobulin administration.

Conclusion

This study revealed for the first time the nationwide status of patients with VICIS in Japan. The mortality rate of patients with VICIS is as high as 40%, and almost all VICIS patients require various forms of home medical care, necessitating comprehensive management. Additionally, we identified one adult patient, underscoring the need for comprehensive medical management extending into adulthood for patients with VICIS.
背景介绍维奇综合征(VICIS)是一种先天性疾病,以胼胝体发育不全、白内障、色素沉着、心肌病、联合免疫缺陷、小头畸形和发育不良为特征。本研究旨在阐明日本 VICIS 患者的人数、临床特征和相关遗传信息:方法:在制定了 VICIS 诊断标准后,我们在日本全国范围内对 VICIS 进行了问卷调查。在首次调查中,我们调查了符合明确或可能标准的 VICIS 患者人数。第二次调查是为了从对初次调查做出回应的机构获得 VICIS 的详细临床和遗传信息:结果:共获得 15 名患者(12 名确诊,3 名可能)的临床信息。截至 2023 年 10 月,9 名患者(60%)存活,6 名患者(40%)死亡。所有患者均表现为发育迟缓、胼胝体发育不全、血清天冬氨酸/丙氨酸氨基转移酶升高、色素沉着和肌张力低下。发育严重迟缓。大多数患者会出现反复感染、高腭、癫痫、发育不良和小头畸形。最初被描述为 VICIS 主要特征的心肌病和白内障在我们的研究中并不常见。根据收集到的信息,14 名患者均接受了家庭医疗护理:11 人(79%)接受了管饲,3 人(21%)需要无创通气,4 人(29%)需要气管造口术,4 人(29%)需要家庭皮下注射免疫球蛋白:本研究首次揭示了日本全国 VICIS 患者的状况。VICIS患者的死亡率高达40%,几乎所有VICIS患者都需要各种形式的家庭医疗护理,因此必须进行综合管理。此外,我们还发现了一名成年患者,这凸显了对成年 VICIS 患者进行全面医疗管理的必要性。
{"title":"A nationwide survey of Vici syndrome in Japan","authors":"Ikumi Hori ,&nbsp;Toshihiko Iwaki ,&nbsp;Emi Sato ,&nbsp;Daisuke Ieda ,&nbsp;Yutaka Negishi ,&nbsp;Ayako Hattori ,&nbsp;Shinji Saitoh","doi":"10.1016/j.braindev.2024.08.001","DOIUrl":"10.1016/j.braindev.2024.08.001","url":null,"abstract":"<div><h3>Background</h3><div>Vici syndrome (VICIS) is a congenital disorder characterized by agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive. This study aimed to elucidate the number of patients with VICIS, its clinical characteristics and relevant genetic information in Japan.</div></div><div><h3>Methods</h3><div>After developing diagnostic criteria for VICIS, we conducted a nationwide questionnaire-based survey of VICIS in Japan. In the initial survey, we investigated the number of VICIS patients who fulfilled definite or probable criteria. The second survey was used to obtain detailed clinical and genetic information of VICIS from institutions that responded to the initial survey.</div></div><div><h3>Results</h3><div>Clinical information was available for 15 patients (12 definite, three probable). As of October 2023, nine patients (60%) were alive and six (40%) had died. All patients presented with developmental delay, agenesis of the corpus callosum, elevated serum aspartate/alanine aminotransferase, hypopigmentation and hypotonia. Developmental delay was profound. Most patients developed recurrent infection, high-arched palate, epilepsy, failure to thrive, and microcephaly. Cardiomyopathy and cataracts, both initially described as principal features in VICIS, were notably uncommon in our study. Based on the information collected, all 14 patients for whom information was available received home medical care: 11 (79%) received tube feeding, three (21%) required noninvasive ventilation, four (29%) required tracheostomy, and four (29%) required home subcutaneous immunoglobulin administration.</div></div><div><h3>Conclusion</h3><div>This study revealed for the first time the nationwide status of patients with VICIS in Japan. The mortality rate of patients with VICIS is as high as 40%, and almost all VICIS patients require various forms of home medical care, necessitating comprehensive management. Additionally, we identified one adult patient, underscoring the need for comprehensive medical management extending into adulthood for patients with VICIS.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 10","pages":"Pages 309-312"},"PeriodicalIF":1.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142010020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Obituary Dr. Milivoj Velickovic Perat Milivoj Velickovic Perat 博士的讣告
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.braindev.2024.10.007
{"title":"Obituary Dr. Milivoj Velickovic Perat","authors":"","doi":"10.1016/j.braindev.2024.10.007","DOIUrl":"10.1016/j.braindev.2024.10.007","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 10","pages":"Page 393"},"PeriodicalIF":1.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142554949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Longitudinal study for the early detection of autism in children with very preterm birth 早期发现早产儿自闭症的纵向研究。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.braindev.2024.08.006
Marta Marín Soro , Laura Gisbert Gustemps , Héctor Boix Alonso , Sergi Martínez-Maldonado , Ricard Coronado Contreras

Introduction

Very preterm birth is an important risk factor for autism spectrum disorder (ASD). The aim of this study is the early detection of ASD risk, using a follow-up protocol, in children weighing less than 1500 g at birth or born before 32 weeks of gestation.

Methods

This is a prospective longitudinal study in which a total of 133 very premature babies were monitored to the age of 2 years with the M-CHAT autism screening test and, in the event of a positive result, the Autism Diagnostic Observation Schedule (ADOS-2).

Results

53 cases (4 out of 10) screened positive, and the rest negative. Among the positives, the ADOS-2 was administered in 50 cases, of which 24 scored above the ASD cutoff point. The average age of detection was 25.39 months. The results suggest an estimated prevalence of ASD in the very premature population of 18.46 %.

Conclusions

The application of the follow-up protocol in the very premature population is effective for early detection of ASD.
介绍:极早产是自闭症谱系障碍(ASD)的一个重要风险因素。本研究的目的是采用随访方案,及早发现出生时体重不足 1500 克或妊娠 32 周前出生的儿童患自闭症谱系障碍的风险:这是一项前瞻性纵向研究,共对 133 名早产儿进行了 M-CHAT 自闭症筛查测试,并在测试结果呈阳性的情况下进行了自闭症诊断观察表(ADOS-2)监测,直至其 2 岁:结果:53 例(10 例中有 4 例)筛查结果呈阳性,其余呈阴性。在阳性结果中,对 50 个病例进行了 ADOS-2 测试,其中 24 个病例的得分超过了 ASD 临界点。检出的平均年龄为 25.39 个月。结果表明,在极早产儿中,ASD 的发病率估计为 18.46%:在极早产儿中应用随访方案可有效地早期发现 ASD。
{"title":"Longitudinal study for the early detection of autism in children with very preterm birth","authors":"Marta Marín Soro ,&nbsp;Laura Gisbert Gustemps ,&nbsp;Héctor Boix Alonso ,&nbsp;Sergi Martínez-Maldonado ,&nbsp;Ricard Coronado Contreras","doi":"10.1016/j.braindev.2024.08.006","DOIUrl":"10.1016/j.braindev.2024.08.006","url":null,"abstract":"<div><h3>Introduction</h3><div>Very preterm birth is an important risk factor for autism spectrum disorder (ASD). The aim of this study is the early detection of ASD risk, using a follow-up protocol, in children weighing less than 1500 g at birth or born before 32 weeks of gestation.</div></div><div><h3>Methods</h3><div>This is a prospective longitudinal study in which a total of 133 very premature babies were monitored to the age of 2 years with the M-CHAT autism screening test and, in the event of a positive result, the Autism Diagnostic Observation Schedule (ADOS-2).</div></div><div><h3>Results</h3><div>53 cases (4 out of 10) screened positive, and the rest negative. Among the positives, the ADOS-2 was administered in 50 cases, of which 24 scored above the ASD cutoff point. The average age of detection was 25.39 months. The results suggest an estimated prevalence of ASD in the very premature population of 18.46 %.</div></div><div><h3>Conclusions</h3><div>The application of the follow-up protocol in the very premature population is effective for early detection of ASD.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 10","pages":"Pages 368-372"},"PeriodicalIF":1.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Myelin oligodendrocyte glycoprotein antibody-associated cerebral cortical encephalitis with super-refractory status epilepticus 髓鞘少突胶质细胞糖蛋白抗体相关性大脑皮质脑炎伴超难治性癫痫状态。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.braindev.2024.09.001
Yayoi Shide-Moriguchi , Naohiro Yamamoto , Ichiro Kuki , Hiroshi Sakuma , Sayaka Yoshida
Background: Seizures are commonly reported in patients with myelin oligodendrocyte glycoprotein antibody-associated cerebral cortical encephalitis (MOG-CCE). However, seizure management during the acute phase has not been established. Case Report: A 9-year-old previously healthy boy presented with fever persisting for approximately 6 days, along with headache and altered consciousness. Plain T2-weighted and fluid-attenuated inversion recovery imaging showed swelling and abnormal hyperintense lesions in the bilateral frontal, parietal, temporal, and insular cortices with left hemisphere predominance. Consciousness disturbance persisted, and focal myoclonic seizures clustered hourly. Seizures were arrested by titrating the thiopental dose but recurred with dose reduction, and the patient exhibited super refractory status epilepticus. Adverse effects due to long-term use of thiopental became apparent. Hence, continuous infusion of ketamine and intrathecal dexamethasone therapy (IT-DEX) was started. After administration of ketamine and IT-DEX, his seizure was arrested promptly. The cerebrospinal fluid and serum at the time of transfer were clear positive for ani-MOG antibody; therefore, the patient was diagnosed with MOG-CCE. The patient received three courses of intravenous methylprednisolone pulse therapy, followed by oral prednisolone gradually tapered over 6 months. He did not experience any relapse for 6 months. Conclusion: In MOG-CCE, some cases may present with super-refractory status epilepticus (SRSE) in the acute phase and be refractory to anti-seizure medication, analogous to febrile infection-related epilepsy syndrome. IT-DEX and continuous infusion ketamine are useful for seizure control in MOG-CCE.
背景:髓鞘少突胶质细胞糖蛋白抗体相关性脑皮质脑炎(MOG-CCE)患者常有癫痫发作的报道。然而,急性期癫痫发作的处理方法尚未确定:病例报告:一名 9 岁的健康男孩因持续发热约 6 天、头痛和意识改变就诊。平扫 T2 加权和液体减弱反转恢复成像显示,双侧额叶、顶叶、颞叶和岛叶皮质肿胀和异常高强度病变,以左半球为主。意识障碍持续存在,局灶性肌阵挛发作每小时一次。通过调整硫喷妥剂量可以抑制癫痫发作,但减少剂量后又会复发,患者表现出超难治性癫痫状态。长期使用硫喷妥的不良反应开始显现。因此,开始持续输注氯胺酮和鞘内地塞米松疗法(IT-DEX)。使用氯胺酮和 IT-DEX 后,他的癫痫发作迅速停止。转院时脑脊液和血清中的 ani-MOG 抗体均呈阳性,因此患者被诊断为 MOG-CCE 患者。患者接受了三个疗程的甲基强的松龙脉冲静脉注射治疗,随后在 6 个月内逐渐减少口服强的松龙的剂量。结论:结论:在MOG-CCE中,一些病例可能在急性期出现超级难治性癫痫状态(SRSE),并且对抗癫痫药物难治,类似于发热感染相关癫痫综合征。IT-DEX 和持续输注氯胺酮有助于控制 MOG-CCE 的癫痫发作。
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引用次数: 0
Cover 封面
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-09-05 DOI: 10.1016/S0387-7604(24)00124-4
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引用次数: 0
Call for abstracts for oral and poster presentations 征集口头和海报展示摘要
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-08-30 DOI: 10.1016/j.braindev.2024.08.004
{"title":"Call for abstracts for oral and poster presentations","authors":"","doi":"10.1016/j.braindev.2024.08.004","DOIUrl":"10.1016/j.braindev.2024.08.004","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 9","pages":"Page iii"},"PeriodicalIF":1.4,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424001190/pdfft?md5=fae0296b45ce6565a973a65dd20cc802&pid=1-s2.0-S0387760424001190-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142148136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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