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Comorbidity of attention deficit hyperactivity disorder in a patient with epilepsy: Staring down the challenge of inattention versus nonconvulsive seizures 癫痫患者合并注意力缺陷多动障碍:面对注意力不集中与非惊厥性癫痫发作的挑战
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100651
Derryl J. Miller , Hannah Komanapalli , David W. Dunn

Epilepsy is a heterogeneous disorder of recurrent seizures which often is comorbid with anxiety, depression, attention deficit hyperactivity disorder (ADHD), intellectual disability (ID), and other psychiatric manifestations. Treating both epilepsy and behavioral symptoms from psychiatric disorders can result in polypharmacy with interactions of medications leading to both worsened efficacy of antiseizure medications due to psychotropic effects and worsening of psychiatric symptoms due to antiseizure medication side effects. We aim to suggest pragmatic strategies for the neurologist in the diagnosis and management of comorbid ADHD in patients with epilepsy based on the International League Against Epilepsy (ILAE) Pediatric Commission guidelines and additional literature review. The screening tool of choice for the symptoms of ADHD is validated in the country of practice and written in the language of the family, though various screening tools and advantages and disadvantages of each will be discussed. Once ADHD is diagnosed, recent safety data suggest that Methylphenidate, Amphetamine, and Atomoxetine are generally safe for patients with epilepsy. We present a case of a child with epilepsy and ADHD and discuss the clinical signs, symptoms, and strategies for treatment as well as when to refer to child psychiatry.

癫痫是一种反复发作的异质性疾病,通常与焦虑、抑郁、注意力缺陷多动障碍 (ADHD)、智力障碍 (ID) 和其他精神症状合并存在。同时治疗癫痫和精神障碍的行为症状可能会导致多药并用,药物之间的相互作用既会因精神药物的作用而导致抗癫痫药物疗效下降,也会因抗癫痫药物的副作用而导致精神症状恶化。我们旨在根据国际抗癫痫联盟(ILAE)儿科委员会指南和其他文献综述,为神经科医生诊断和管理癫痫患者合并多动症提出实用的策略建议。针对多动症症状的首选筛查工具已在执业所在国得到验证,并以患者家庭的语言编写,但也会讨论各种筛查工具及其优缺点。一旦确诊为多动症,最近的安全数据表明哌醋甲酯、安非他明和阿托莫西汀对癫痫患者通常是安全的。我们将介绍一个患有癫痫和多动症的儿童病例,并讨论其临床症状、体征和治疗策略,以及何时应转诊至儿童精神科。
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引用次数: 0
The dual effect of vagus nerve stimulation in pediatric patients with drug-resistant epilepsy: Is there more than seizure control? 迷走神经刺激对儿科耐药性癫痫患者的双重作用:不仅能控制癫痫发作吗?
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100653
Mohamed Ashraf Mahmoud , Omnia El Rashidi , George Halim , Mohamed Amgad Elkholy , Osama Aglan , Abdel Rahman El Sabbagh , Ahmed Kamel Basha , Hussein Hamdi , Ahmed M. El Sayed , Dina Amin Saleh , R.H. Shatla , Walid Abdel Ghany

This is a retrospective and comparative pilot study to investigate the role of vagus nerve stimulation (VNS) in improving cognitive functions in the pediatric age group with drug resistant epilepsy (DRE). It was conducted from January 2018 to February 2023. Children between the ages of 4 and 18 years were divided into two groups, the “VNS group” and the “best medical treatment (BMT) group”. Follow up period was 12 months. Demographic, clinical, etiological and investigational data were recorded. Cognitive assessment using the Modified Mini-Mental State Examination for children (MMSE) was recorded at baseline and 12 months later for each group. 76.4 % of patients were classified as epilepsy secondary to cerebral palsy. 75 % of patients showed ≥ 50 % seizure frequency reduction among the VNS group as compared to 12.5 % in the BMT group. None of both groups achieved seizure freedom. At 12 months, both BMT and VNS groups showed statistically significantly improved overall cognitive score from baseline records (p = 0.027) and (p = 0.012), respectively, with a significantly higher improvement in VNS group. Also, statistical sub-analysis of cognitive subscales in cerebral palsy patients in both groups was conducted and revealed a significant improvement (p = 0.02) in the VNS group. We concluded that there is a potential role of VNS in improving cognitive functions which was shown by using a cost-effective screening tool. A significant effect was observed specially in cerebral palsy patients. This is very beneficial in limited-resources countries since VNS has good safety profile, high seizure control, and added value to cognitive functions.

这是一项回顾性对比试验研究,旨在探讨迷走神经刺激(VNS)在改善儿科年龄组耐药癫痫(DRE)患者认知功能方面的作用。研究时间为 2018 年 1 月至 2023 年 2 月。4至18岁的儿童被分为两组,即 "VNS组 "和 "最佳药物治疗(BMT)组"。随访期为 12 个月。记录了人口统计学、临床、病因学和研究数据。每组患者在基线和 12 个月后均使用 "改良儿童智力状态测验"(MMSE)进行认知评估。76.4%的患者被归类为脑瘫继发性癫痫。在 VNS 治疗组中,75% 的患者癫痫发作频率减少了 50%,而在 BMT 治疗组中仅减少了 12.5%。两组患者均未出现癫痫发作。在 12 个月时,BMT 组和 VNS 组的总体认知评分分别比基线记录(p = 0.027)和(p = 0.012)有显著的统计学改善,其中 VNS 组的改善幅度更大。此外,我们还对两组脑瘫患者的认知分量表进行了统计子分析,结果显示 VNS 组患者的认知分量表有明显改善(p = 0.02)。我们的结论是,VNS 在改善认知功能方面具有潜在作用,这一点已通过使用一种具有成本效益的筛查工具得到证实。特别是在脑瘫患者中观察到了明显的效果。这对资源有限的国家非常有益,因为 VNS 具有良好的安全性、较高的癫痫发作控制能力和认知功能附加值。
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引用次数: 0
The epileptic blip syndrome 癫痫突发综合征
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100691
Edgar Matringe , Juan R. Vidal , Marcela Perrone-Bertolotti , Laurent Vercueil

We report on the case of an adolescent with juvenile myoclonic epilepsy exhibiting compulsory sporadic voluntary movement. These movements entailed the deliberate act of touching her forehead with her hand and were triggered by a short and indefinable cephalic sensation. Upon inquiry regarding the nature of this movement, the patient reported a sudden perception of a peculiar event localized “inside her head”. In the course of a prolonged video-electroencephalographic recording, it appeared that the movements consistently followed the occurrence of diffuse Generalized Spike-and-Wave Bursts (GSWBs), lasting one to three seconds. This observation suggests that the impact of the GSWBs on the patient’s stream of consciousness could be detected by the patient herself, who attributed it to an internal sensation, like a “blip on a screen”. This clinical observation echoes the “blip syndrome”, as described by the neurologist James W. Lance thirty years ago. These findings give some support that “blips” could be of an epileptic origin and lend weight to the notion that some patients could perceive their own EEG discharges. Moreover, this observation should be added to the perennial debate on the cognitive impact of intercritical discharges.

我们报告了一例患有幼年肌阵挛性癫痫的青少年患者,她表现出强制性的零星自主运动。这些运动包括故意用手触摸前额,并由一种短暂且无法确定的头面部感觉引发。在询问这种运动的性质时,患者说她突然感觉到 "在她脑袋里 "发生了一件奇特的事情。在长时间的视频脑电图记录过程中,这种运动似乎一直紧随持续一到三秒钟的弥漫性泛发性棘波-波阵(GSWBs)的出现。这一观察结果表明,GSWBs 对患者意识流的影响可以被患者自己察觉到,患者将其归结为一种内部感觉,就像 "屏幕上的一个小点"。这一临床观察结果与神经学家詹姆斯-兰斯(James W. Lance)三十年前描述的 "闪烁综合征 "不谋而合。这些发现在一定程度上支持了 "闪烁 "可能源于癫痫的观点,并使一些患者能够感知自己的脑电图放电的说法更有说服力。此外,这一观察结果也应加入到关于临界期放电对认知影响的长期争论中。
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引用次数: 0
Refractory inflammatory hydrocephalus: A case report of a rare and complicated delayed sequelae following cerebral hemispherectomy surgery for epilepsy 难治性炎性脑积水:一例罕见且复杂的癫痫大脑半球切除手术后延迟性后遗症报告
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100694
Akshay Sharma , Efstathios Kondylis , Shaarada Srivatsa , Nehaw Sarmey , Deepak Lachhwani , Laura Nedorezov , William Bingaman

Hydrocephalus is a known complication following surgical resection of a cerebral hemisphere for refractory epilepsy, yet the pathological mechanism remains poorly understood. We present a case of refractory aseptic inflammatory hydrocephalus following cerebral hemispherectomy surgery for refractory epilepsy treated with a combination of cerebral spinal fluid (CSF) diversion and immunosuppression via IL-1 receptor agonist, Anakinra. At 6 month follow up, the patient had returned to neurologic baseline, with improvement in school and physical therapy performance. Further investigation into the beneficial role of immunosuppressive therapy is needed to better understand the relationship between neuro-inflammation and improving outcomes following epilepsy surgery.

众所周知,脑积水是难治性癫痫手术切除大脑半球后的一种并发症,但对其病理机制仍知之甚少。我们介绍了一例难治性无菌性炎症性脑积水患者,该患者在接受大脑半球切除手术治疗难治性癫痫后,接受了脑脊液引流和通过IL-1受体激动剂Anakinra进行免疫抑制的综合治疗。在 6 个月的随访中,患者的神经功能已恢复到基线水平,在学校和物理治疗方面的表现也有所改善。我们需要进一步研究免疫抑制疗法的有益作用,以便更好地了解神经炎症与改善癫痫手术后疗效之间的关系。
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引用次数: 0
Knowledge, attitudes and practices of psychiatrists in India regarding sudden unexpected death in epilepsy (SUDEP) and seizure-related harm 印度精神科医生对癫痫意外猝死 (SUDEP) 和癫痫发作相关伤害的认识、态度和做法
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100686
Surobhi Chatterjee , Shivangini Singh , Sujita Kumar Kar , Rohit Shankar

Sudden unexpected death in Epilepsy (SUDEP) is one of the leading causes of death in people with epilepsy (PWE). Awareness and taking adequate preventive measures are pivotal to reducing SUDEP. Nearly 80% of PWE live in lower-middle-income countries (LMICs) such as India where for many, epilepsy management is by psychiatrists.

To evaluate the knowledge, attitude and practices of Indian psychiatrists on SUDEP and seizure risk.

A cross-sectional online survey of 12 Likert response questions using validated themes, was circulated among Indian Psychiatric Society members. Non-discriminatory exponential snowballing technique leading to convenience non-probability sampling was used. The inquiry involved SUDEP-related topics including the need for and importance of counselling. Descriptive statistics and the chi-square test were used for analysis.

The psychiatrists responding (n = 134) were likely to be males (72.4 %), urban (94 %) and affiliated to academic institutions (76.1 %). Nearly all saw PWE monthly with over half (54 %) seeing more than 10. Nearly two-third (64.17 %) did not counsel PWE regarding SUDEP, due to fear of raising concerns in caregivers/family (33.3 %), patients (38.9 %) or lack of time (35.6 %), though 37 % had lost patients due to SUDEP. Over two-third (66.7 %) agreed risk counselling was important. Barriers included fear of raising concerns, limited time, and training. A strong need for national SUDEP guidelines (89 %) and suitable training (75.4 %) was expressed.

Though epilepsy care is provided by a considerable number of psychiatrists, there is a poor understanding of SUDEP. Enhancing the awareness and understanding of SUDEP is likely to enhance epilepsy care.

癫痫猝死(SUDEP)是导致癫痫患者(PWE)死亡的主要原因之一。提高认识并采取适当的预防措施是减少癫痫猝死的关键。为了评估印度精神科医生在 SUDEP 和癫痫发作风险方面的知识、态度和实践,我们在印度精神医学会成员中分发了一份横向在线调查,其中包括 12 个采用已验证主题的李克特回答问题。调查采用了非歧视性的指数滚雪球技术,以方便非概率抽样。调查涉及 SUDEP 相关主题,包括咨询的必要性和重要性。受访的精神科医生(n = 134)可能为男性(72.4%)、城市居民(94%)和学术机构成员(76.1%)。几乎所有精神科医生每月都会接诊精神病患者,其中一半以上(54%)接诊的精神病患者超过 10 人。近三分之二(64.17%)的医务人员没有就 SUDEP 向病患提供咨询,原因是担心引起护理人员/家属(33.3%)、患者(38.9%)的担忧或没有时间(35.6%),尽管有 37% 的医务人员曾因 SUDEP 而失去过患者。超过三分之二(66.7%)的人认为风险咨询很重要。阻碍因素包括害怕提出问题、时间有限和培训。尽管有相当多的精神科医生提供癫痫护理服务,但他们对 SUDEP 的了解却很少。提高对 SUDEP 的认识和了解很可能会加强癫痫护理。
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引用次数: 0
Aborted sudden cardiac death in a young patient with epilepsy and the Gorlin Goltz syndrome 一名患有癫痫和戈尔林-戈尔茨综合征的年轻患者心跳骤停死亡
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100667
Guilherme Salazar Serrano , Alexandre Dias de Oliveira , Ramsés Miotto , Katia Lin , Guilherme Loureiro Fialho

Epilepsy is one of the most common chronical neurological conditions affecting over 50 million people worldwide. In addition to the stigma and discrimination, individuals with epilepsy suffer from a nearly three-fold increased risk of premature death compared to the general population. Although these premature deaths occur due to multiple causes, sudden unexpected death in epilepsy (SUDEP) still challenges neurologists and clinicians dealing with individuals with epilepsy. Recently, an increased interest in cardiac outcomes related to acute seizures and chronic epilepsy resulted in the groundbreaking development of the “epileptic heart” concept, and sudden cardiac death in individuals with epilepsy, which is 4.5 times as frequent as SUDEP according to some observational data, has gained more attention. As we gather information and learn about possible comorbidities and consequences of seizures and/or chronic epilepsy, we present a clinical case of a young patient with an unusual association of epilepsy, the Gorlin Goltz syndrome, and a cardiac fibroma with Wolf-Parkinson-White (WPW), who had multiple aborted cardiac arrests. Diagnostic challenges and multiple possible causes of sudden cardiac death in this single patient report are discussed.

癫痫是最常见的慢性神经系统疾病之一,影响着全球 5000 多万人。除了耻辱和歧视之外,癫痫患者过早死亡的风险比普通人群高出近三倍。虽然这些过早死亡是由多种原因造成的,但癫痫中的意外猝死(SUDEP)仍然是神经科医生和临床医生在处理癫痫患者时面临的挑战。最近,人们对与急性癫痫发作和慢性癫痫相关的心脏结果越来越感兴趣,从而开创性地提出了 "癫痫性心脏 "的概念,癫痫患者的心脏性猝死(根据一些观察数据,其发生率是 SUDEP 的 4.5 倍)也得到了更多的关注。在我们收集信息并了解癫痫发作和/或慢性癫痫的可能并发症和后果时,我们介绍了一例年轻患者的临床病例,该患者患有癫痫、戈林-戈尔茨综合征(Gorlin Goltz syndrome)和沃尔夫-帕金森-怀特(WPW)心脏纤维瘤(cardiac fibroma with Wolf-Parkinson-White,WPW)等不寻常的并发症,曾多次心跳骤停。本文讨论了这一单一患者报告中的诊断难题和导致心脏性猝死的多种可能原因。
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引用次数: 0
The epileptic heart: Cardiac comorbidities and complications of epilepsy. Atrial and ventricular structure and function by echocardiography in individuals with epilepsy – From clinical implications to individualized assessment 癫痫患者的心脏:心脏合并症和癫痫并发症。通过超声心动图检查癫痫患者的心房和心室结构与功能--从临床意义到个体化评估
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100668
Guilherme Loureiro Fialho , Ramsés Miotto , Márcia Tatsch Cavagnollo , Hiago Murilo Melo , Peter Wolf , Roger Walz , Katia Lin

Epilepsy is an increasing global neurological health issue. Recently, epidemiological and mechanistic studies have raised concern about cardiac involvement in individuals with epilepsy. This has resulted in the “epileptic heart” concept. Epidemiological data linking epilepsy to cardiovascular disease indicate an increased risk for ventricular and atrial arrhythmias, myocardial infarction, heart failure, and sudden death among individuals with epilepsy. Pathways of this interaction comprise increased prevalence of traditional cardiac risk factors, genetic abnormalities, altered brain circuitry with autonomic imbalance, and antiseizure medications with enzyme-inducing and ionic channel-blocking proprieties. Pathophysiological findings in the atria and ventricles of patients with epilepsy are discussed. Echocardiographic findings and future applications of this tool are reviewed. A risk stratification model and future studies on cardiac risk assessment in individuals with epilepsy are proposed.

癫痫是一个日益严重的全球性神经系统健康问题。最近,流行病学和机理研究引起了人们对癫痫患者心脏受累问题的关注。由此产生了 "癫痫性心脏 "的概念。将癫痫与心血管疾病联系起来的流行病学数据表明,癫痫患者发生室性和房性心律失常、心肌梗塞、心力衰竭和猝死的风险增加。这种相互作用的途径包括:传统心脏风险因素的发病率增加、遗传异常、自律神经失衡的脑回路改变以及具有酶诱导和离子通道阻断特性的抗癫痫药物。本文讨论了癫痫患者心房和心室的病理生理学发现。回顾了超声心动图检查结果和这一工具的未来应用。提出了一个风险分层模型和未来对癫痫患者心脏风险评估的研究。
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引用次数: 0
Effects of exercise on sleep in patients with epilepsy: A systematic review 运动对癫痫患者睡眠的影响:系统回顾
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100675
Christina Mueller , Ashley Thomas , Amy W. Amara , Jennifer DeWolfe , S. Justin Thomas

Exercise interventions in epilepsy have been shown to improve seizure frequency, physical capacity, quality of life, mood, and cognitive functioning. However, the effectiveness of exercise in improving sleep in epilepsy is less clear. The purpose of this report is to identify the published literature regarding exercise interventions in people with epilepsy to determine 1) what proportion of published clinical trials assess sleep as an outcome, and 2) what benefits of exercise interventions on sleep have been observed. We searched the PubMed, PsycINFO, and SCOPUS electronic databases using the search terms “epilepsy AND [exercise OR physical activity]” and identified 23 articles reporting on 18 unique clinical trials. Nine studies were conducted in adults, five in children, and four in adults and children with active seizures, controlled seizures, or both. Exercise modalities included aerobic exercise, strength training, walking, and yoga, among others, and some also included educational and motivational components. Exercise effects on sleep were tested in four studies, two of which only included indirect measures of sleep- and rest-related fatigue, with mixed results. Of the two reports assessing sleep directly, one reported marginal non-significant improvements in subjective sleep quality and no improvements in objective sleep quality in children after twelve weeks of walking, and the other reported no benefits in subjective sleep quality after twelve weeks of combined aerobic, strength, and flexibility training in adults. Given the health benefits of sleep and detrimental effects of sleep deprivation in epilepsy, epilepsy researchers need to assess the effects of exercise interventions on sleep.

对癫痫进行运动干预已被证明可以改善癫痫发作频率、体能、生活质量、情绪和认知功能。然而,运动在改善癫痫患者睡眠方面的效果却不太明确。本报告旨在确定已发表的有关癫痫患者运动干预的文献,以确定:1)已发表的临床试验中将睡眠作为结果进行评估的比例;2)已观察到运动干预对睡眠有哪些益处。我们在 PubMed、PsycINFO 和 SCOPUS 电子数据库中使用 "癫痫和[运动或体育活动]"作为检索词进行了检索,发现了 23 篇文章,报告了 18 项独特的临床试验。其中 9 项研究针对成人,5 项针对儿童,4 项针对成人和儿童,研究对象包括活动性癫痫发作、受控癫痫发作或两者兼有。运动方式包括有氧运动、力量训练、步行和瑜伽等,其中一些还包括教育和激励成分。四项研究测试了运动对睡眠的影响,其中两项研究仅包括睡眠和休息相关疲劳的间接测量,结果喜忧参半。在直接评估睡眠的两份报告中,一份报告称,儿童在进行为期12周的步行训练后,主观睡眠质量略有改善,但客观睡眠质量没有改善;另一份报告称,成人在进行为期12周的有氧、力量和柔韧性综合训练后,主观睡眠质量没有改善。鉴于睡眠对健康的益处以及睡眠不足对癫痫患者的不利影响,癫痫研究人员需要评估运动干预对睡眠的影响。
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引用次数: 0
Adult-onset status epilepticus in patients with COQ8A coenzyme Q10 deficiency: A case series COQ8A 辅酶 Q10 缺乏症患者的成人癫痫状态:病例系列
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100716
Panagiota-Eleni Tsalouchidou , Clara Juenemann , Wiebke Hahn , Felix Zahnert , Leona Möller , Lukas Hakel , André Kemmling , Katja Menzler , Ole J. Simon , Lars Timmermann , Susanne Knake , Felix Bernhard
This case series describes the clinical features, diagnostic challenges, treatment approaches, and outcomes of three adult patients with COQ8A-related CoQ10 deficiency presenting with focal status epilepticus, who were effectively treated at the Department of Neurology, Philipps University Marburg, Marburg, Germany. The patients, all from consanguineous families with the first two being siblings, presented with a late onset of the disease, characterized by progressive cerebellar ataxia and epilepsy, with clinical deterioration and focal status epilepticus occurring in adulthood. The first patient exhibited myoclonic status, while the second and third patients presented with bilateral tonic-clonic seizures followed by focal status epilepticus manifesting with cortical blindness. Despite differing semiologies, all patients displayed similar EEG findings with continuous or nearly continuous occipital sharp waves and spikes. MRI findings revealed focal changes in the Diffusion-Weighted Imaging (DWI) and Fluid Attenuated Inversion Recovery (FLAIR) sequences. Significant clinical improvement was observed following treatment with high doses of CoQ10, with the diffusion restriction abnormalities being reversible after therapy. In conclusion, consistent with existing literature, we observed a characteristic EEG pattern that can help identify the disease and facilitate early diagnosis and treatment. The diffusion restriction abnormalities on MRI were reversible after therapy, and high doses of CoQ10 proved beneficial even in cases of status epilepticus.
本系列病例描述了三名患有 COQ8A 相关 CoQ10 缺乏症并伴有局灶性癫痫的成年患者的临床特征、诊断难题、治疗方法和疗效,德国马尔堡菲利普斯大学神经病学系对这些患者进行了有效治疗。这些患者均来自近亲结婚家庭,前两名患者是同胞兄弟姐妹,起病较晚,以进行性小脑共济失调和癫痫为特征,成年后出现临床恶化和局灶性癫痫状态。第一名患者表现为肌阵挛性状态,第二名和第三名患者表现为双侧强直-阵挛发作,随后出现局灶性癫痫状态,表现为皮层失明。尽管半身状态不同,但所有患者的脑电图表现相似,均为连续或几乎连续的枕叶尖波和棘波。核磁共振成像(MRI)结果显示,弥散加权成像(DWI)和流体衰减反转恢复(FLAIR)序列出现局灶性改变。使用大剂量辅酶Q10治疗后,临床症状明显改善,弥散限制异常在治疗后可逆转。总之,与现有文献一致,我们观察到了一种特征性的脑电图模式,这种模式有助于鉴别该疾病并促进早期诊断和治疗。核磁共振成像上的弥散受限异常在治疗后是可逆的,大剂量辅酶Q10甚至对癫痫状态病例也有益处。
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引用次数: 0
Detection of ictal apnea refines the clinical spectrum of ATRX syndrome 检测发作性呼吸暂停可完善 ATRX 综合征的临床范围
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100717
Galal Banat , Friedrich G. Woermann , Rami Abou Jamra , Christian G. Bien , Christian Brandt
Alpha-thalassemia X-linked intellectual disability syndrome (ATRX) is a rare genetic disorder caused by mutations in the ATRX gene. It is characterized by distinct dysmorphic features, alpha thalassemia, varying degrees of intellectual disability, and the presence of epilepsy in approximately 30 % of affected individuals. We present the case of a 36-year-old patient with severe intellectual disability and epilepsy due to a hemizygous pathogenic variant, c.736c > T, p. (Arg246Cys), in the ATRX gene. During inpatient treatment, numerous respiratory pauses were detected. Repeated video EEG recordings revealed seizure patterns with a left frontocentral origin and an occasional spread to the bifrontal region and episodes of apnea without an EEG correlate. This case report adds to the current literature, as it shows a co-occurrence of ictal and non-ictal apnea in ATRX syndrome, expanding our understanding of respiratory disturbances in this rare genetic disorder.
阿尔法地中海贫血 X 连锁智障综合征(ATRX)是一种罕见的遗传性疾病,由 ATRX 基因突变引起。其特征是明显的畸形特征、α-地中海贫血、不同程度的智力障碍,约 30% 的患者伴有癫痫。我们介绍了一例因 ATRX 基因半杂合子致病变体 c.736c >T,p. (Arg246Cys) 而导致严重智力障碍和癫痫的 36 岁患者。在住院治疗期间,患者多次出现呼吸暂停。反复进行的视频脑电图记录显示,该患者的癫痫发作模式起源于左侧额中央区,偶尔会扩散到双额叶区,且发作性呼吸暂停与脑电图无相关性。本病例报告为现有文献增添了新的内容,因为它显示了 ATRX 综合征患者同时出现发作性和非发作性呼吸暂停,从而扩展了我们对这种罕见遗传性疾病呼吸紊乱的认识。
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引用次数: 0
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Epilepsy and Behavior Reports
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