• 文章类型: Case Reports
    背景技术单骨纤维发育不良是纤维组织和骨组织的良性增殖,其扩张髓质骨而由于邻近器官和解剖结构的压迫而引起症状。局灶性癫痫很少是这种病变的第一个征兆。该报告描述了一名年轻女性患者,患有左侧局灶性运动性癫痫发作,并伴有纤维发育不良,表现为右顶骨肿块。病例报告一名18岁女学生,患有左侧局灶性运动性癫痫,右侧顶骨有肿块。计算机断层扫描显示右顶骨上有一个扩张性混合密度病变,外圆周部分的相对均匀的毛玻璃外观,和一个透明的偏心区域,边界变薄但硬化。磁共振成像在T1WI上显示出均匀的低信号,T2WI上的一个小的高强度信号,和强烈增强信号强度在对比后T1。脑电图显示发作间癫痫样活动源自右额中央叶。进行了正常骨边缘的手术整块切除和颅骨成形术。组织病理学显示纤维发育不良的特征,包括在致密的成纤维细胞基质中随意排列的骨样小梁,不规则小梁,缺乏明显的成骨细胞边缘,和含有细胞学上温和的梭形细胞的纤维基质。患者实现了癫痫发作控制,并保持神经系统完整。结论本报告强调了骨纤维结构异常的早期诊断对于排除原发性骨恶性肿瘤或骨转移的重要性。确保快速管理和症状控制。
    BACKGROUND Monostotic fibrous dysplasia is a benign proliferation of fibrous and osseous tissues that expand medullary bone to cause symptoms due to compression of adjacent organs and anatomical structures. Focal seizures are rarely the first sign of this kind of lesion. This report describes a young female patient with left-sided focal motor seizures associated with fibrous dysplasia presenting as a mass in the right parietal bone. CASE REPORT An 18-year-old female student with left-sided focal motor seizures presented with a mass in the right parietal bone. Computed tomography revealed an expansile mixed-density lesion on the right parietal bone, a relatively homogeneous ground-glass appearance in the outer circumferential portion, and a lucent eccentric area with thinned but sclerotic borders. Magnetic resonance imaging revealed a homogeneously hypointense signal on T1WI, a small hyperintense signal on T2WI, and avid enhancement signal intensity on post-contrast T1. Electroencephalogram showed inter-ictal epileptiform activities derived from the right fronto-central lobe. Surgical en bloc resection with a margin of normal bone and cranioplasty were performed. Histopathology showed features indicative of fibrous dysplasia, including osteoid trabeculae arranged haphazardly in a dense fibroblastic stroma, irregular trabeculae lacking conspicuous osteoblastic rimming, and intervening fibrous stroma containing cytologically bland spindle cells. The patient achieved seizure control and has remained neurologically intact. CONCLUSIONS This report has highlighted the importance of early diagnosis of fibrous dysplasia of bone to exclude primary bone malignancy or bone metastasis, to ensure rapid management and symptom control.
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  • 文章类型: Case Reports
    延迟性神经精神后遗症(DNS)是一种在急性一氧化碳(CO)中毒后数天至数周出现的综合征。DNS显示各种神经精神症状,如精神退化和帕金森病。
    我们的病例是一名37岁男性精神分裂症患者。他试图通过CO中毒自杀,并被带到我们的急诊室(第0天)。他接受了常压氧疗通气3天,并以清醒的意识转移到精神病房。我们重新开始抗精神病药,他逐渐表现出运动障碍和僵硬。此外,在第32天左右,他表现出杂乱无章的行为,精神恶化,失禁,和步态紊乱。脑磁共振成像(MRI)在第35天显示轻微异常发现。尽管我们在临床过程和MRI检查结果中怀疑DNS,还考虑了抗精神病药的卡顿和副作用。最后,第38天脑电图(EEG)有明显异常,包括扩散慢波,导致我们对DNS的诊断,他接受了高压氧治疗.他的病情有了很大的改善,他在脑电图上的弥散慢波在第83天消失了。我们还跟踪了他的临床表现和脑部MRI,直到33个月。在整个后续行动中,他的认知,运动,精神症状保持稳定。然而,他的脑MRI显示双侧额叶进行性萎缩,整个过程中白质病变增加。
    脑电图,以及脑部MRI,在涉及药物治疗和严重精神疾病的复杂疾病患者中,DNS的鉴别诊断可能至关重要。
    UNASSIGNED: Delayed neuropsychiatric sequelae (DNS) is a syndrome that appears days to weeks after acute carbon monoxide (CO) poisoning. DNS shows various neuropsychiatric symptoms, such as mental deterioration and parkinsonism.
    UNASSIGNED: Our case was a 37-year-old male with schizophrenia. He attempted suicide by CO poisoning and was brought to our emergency department (Day 0). He was ventilated with normobaric oxygen therapy for 3 days and moved to the psychiatric ward with clear consciousness. We restarted antipsychotics, and he gradually presented akinesia and rigidity. Additionally, around Day 32, he showed disorganized behaviors, mental deterioration, incontinence, and gait disturbance. Brain magnetic resonance imaging (MRI) showed slightly abnormal findings on Day 35. Although we suspected DNS on the clinical course and the MRI findings, catatonia and side-effects of antipsychotics were also considered. Finally, electroencephalography (EEG) on Day 38 with apparent abnormalities, including diffuse slow waves, resulted in our diagnosis of DNS, and he underwent hyperbaric oxygen therapy. His condition was dramatically improved, and his diffuse slow waves on EEG disappeared on Day 83. We also followed his clinical presentations and brain MRI until 33 months. Throughout the whole follow-up, his cognition, movement, and psychiatric symptoms remained stable. However, his brain MRI showed progressive atrophy in bilateral frontal lobes and increasing white matter lesions throughout the whole course.
    UNASSIGNED: EEG, as well as brain MRI, may be crucial in the differential diagnosis of DNS in patients with complex conditions involving medications and severe mental illnesses.
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  • 文章类型: Case Reports
    我们介绍了严重脑积水后皮质层状坏死的情况,以强调对多模式脑自动调节监测的考虑因素,以确定神经系统紧急情况下的平均动脉压(MAP)阈值,以及脑室腹膜分流(VPS)患者的术后头颅造影。
    一名40岁女性,有ChiariII畸形和非交通性脑积水的病史,并伴有VPS,表现为来自骶骨伤口的感染性休克。结肠造口术后一周粪便转移,患者昏迷,脑电图(EEG)逐渐减慢至完全抑制.
    CT成像显示脑积水,最可能是由于腹膜内手术的VPS远端阻塞。尽管神经外科和神经重症监护管理,MRI证实弥漫性皮质缺氧缺血性损伤。
    神经危重症护理协会针对神经系统紧急情况的紧急神经系统生命支持(ENLS)方案侧重于控制颅内压升高(ICP),但未设定MAP目标。脑疝时ICP可能很高,我们的案例表明,维持充足的循环可能需要更高的MAP。为了确定最佳MAP目标,床边多模态监测,包括ICP监测员,经颅多普勒,和近红外光谱,可以帮助建立个体化的脑自动调节引导阈值。在神经重症监护室外面,EEG可以监测脑血流并在检查或成像改变之前指示用于干预的窗口。此外,我们的案例证明了VPS患者应如何考虑术后CT监测.
    UNASSIGNED: We present a case of cortical laminar necrosis after severe hydrocephalus to highlight considerations for multimodal cerebral autoregulation monitoring to determine mean arterial pressure (MAP) thresholds during neurological emergencies, as well as postoperative head imaging for patients with ventriculoperitoneal shunts (VPS).
    UNASSIGNED: A 40-year-old woman with a history of Chiari II malformation and non-communicating hydrocephalus with VPS presented in septic shock from a sacral wound. One week after colostomy for fecal diversion, the patient became comatose and had progressive slowing to full suppression on electroencephalogram (EEG).
    UNASSIGNED: CT imaging revealed hydrocephalus, most likely due to VPS distal obstruction from intraperitoneal surgery. Despite neurosurgical and neurocritical care management, MRI confirmed diffuse cortical hypoxic ischemic injury.
    UNASSIGNED: The Neurocritical Care Society\'s Emergency Neurological Life Support (ENLS) protocol for neurological emergencies focuses on managing increased intracranial pressure (ICP) but does not set MAP goals. As ICP may be very high during brain herniation, our case demonstrates that higher MAP may be required to maintain adequate circulation. To determine the optimal MAP target, bedside multimodality monitoring, including ICP monitors, transcranial doppler, and near infrared spectroscopy, can help establish individualized cerebral autoregulation guided thresholds. Outside of a neurological intensive care unit, EEG can monitor cerebral blood flow and indicate windows for intervention before exam or imaging changes. Additionally, our case demonstrates how a post-operative surveillance CT head should be considered for patients with VPS.
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  • 文章类型: Journal Article
    已知多种药物会增加有和没有潜在癫痫发作的患者的癫痫发生。矛盾的是,其中一些药物包括抗癫痫药物(ASM)和其他药物,比如精神药物,作用于中枢神经系统(CNS)。本文旨在讨论3例临床病例,这些病例突出了中枢神经系统药物继发的癫痫反应性,包括发作间癫痫样放电(IED)形式的癫痫发作性增加,而没有癫痫发作。与相关的非癫痫性运动障碍的脑电图(EEG)上的癫痫性增加,弗兰克,从头发作。我们还分析了有关中枢神经系统药物对癫痫发生的影响的相关文献。
    Multiple medications are known to increase epileptogenicity in patients with and without an underlying seizure disorder. Paradoxically, some of these medications include anti-seizure medications (ASMs) and other medications, such as psychotropics, that act on the central nervous system (CNS). This article aims to discuss 3 clinical cases that highlight the gamut of epileptogenic reactivity secondary to CNS drugs ranging from increased epileptogenicity in the form of interictal epileptiform discharges (IEDs) without seizures, increased epileptogenicity on electroencephalogram (EEG) with associated non-epileptic movement disorders, and frank, de novo seizures. We also analyze the relevant literature on the impact of CNS medications on epileptogenicity.
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  • 文章类型: Case Reports
    介绍一例Klos综合征,精神病学中一种罕见的精神病理学表现,其特征是与左颞顶区癫痫灶有关的“时间麻痹”经验。通过详细的心理病理学分析确定了该综合征,并通过脑电图记录进行了检测。患者接受卡马西平抗癫痫治疗后症状消失。在这个案例报告中,我们强调了详细的现象学和临床分析,以及当我们面对不寻常或突然发作的症状而没有任何触发时进行补充测试的重要性,发生在案件曝光。
    A case of Kloos syndrome is presented, a rare psychopathological manifestation in psychiatry characterized by the experience of \"time paralysis\" related to an epileptic focus in the left temporoparietal areas. This syndrome was identified through a detailed psychopathological analysis and detected by an electroencephalographic record. The patient\'s symptoms disappeared after receiving antiepileptic treatment with Carbamazepine. In this case report we highlight the detailed phenomenological and clinical analysis, as well as the importance of carrying out complementary tests when we are faced with unusual or sudden-onset symptoms without any trigger, as took place in the case exposed.
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  • 文章类型: Journal Article
    以前的文献表明,正念冥想可以对心理健康产生积极影响,然而,其作用机制尚不清楚。在这项预先注册的研究中,我们研究了冥想练习期间正念训练对注意力失误(及其相关的神经相关性)的影响。为此,我们记录了41名参与者(21名治疗者和20名对照者)在正念训练(或等候者)8周前后冥想练习期间的脑电图(EEG).为了检测注意力的失误并表征它们的脑电图相关性,我们在冥想期间打断参与者报告他们的注意力和嗜睡程度。首先,我们表明,在冥想练习中自我报告的注意力失误与theta振荡(3-6Hz)的发生率增加有关,与集中注意力状态下发生的θ振荡相比,频率更慢,空间分布更大。然后,我们表明,正念训练并没有减少冥想过程中注意力失误的发生,也没有减少它们相关的脑电图(即θ振荡)。相反,我们发现,正念训练与冥想期间额叶电极alpha振荡的显著减慢有关。至关重要的是,据报道,经验丰富的冥想者在冥想练习期间额叶α减慢,被认为反映了唤醒水平的相对降低。一起,我们的发现为正念冥想的脑电图相关性提供了见解,这可能对确定其作用机制和/或开发旨在促进冥想练习的神经调节方案具有重要意义。
    Previous literature suggests that mindfulness meditation can have positive effects on mental health, however, its mechanisms of action are still unclear. In this pre-registered study, we investigate the effects of mindfulness training on lapses of attention (and their associated neural correlates) during meditation practice. For this purpose, we recorded Electroencephalogram (EEG) during meditation practice before and after 8 weeks of mindfulness training (or waitlist) in 41 participants (21 treatment and 20 controls). In order to detect lapses of attention and characterize their EEG correlates, we interrupted participants during meditation to report their level of focus and drowsiness. First, we show that self-reported lapses of attention during meditation practice were associated to an increased occurrence of theta oscillations (3-6 Hz), which were slower in frequency and more spatially widespread than theta oscillations occurring during focused attention states. Then, we show that mindfulness training did not reduce the occurrence of lapses of attention nor their associated EEG correlate (i.e. theta oscillations) during meditation. Instead, we find that mindfulness training was associated with a significant slowing of alpha oscillations in frontal electrodes during meditation. Crucially, frontal alpha slowing during meditation practice has been reported in experienced meditators and is thought to reflect relative decreases in arousal levels. Together, our findings provide insights into the EEG correlates of mindfulness meditation, which could have important implications for the identification of its mechanisms of action and/or the development of neuromodulation protocols aimed at facilitating meditation practice.
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  • 文章类型: Case Reports
    由于对该监测系统的干扰,已报告了错误的双频指数(BIS)值。我们报道了一例46岁的女性,她接受了抽脂和乳房充脂,我们观察到BIS算法的误解尚未报道。同时进行腹部和大腿吸脂术,观察到BIS值增加。此例报告强调了抽脂手术期间检查脑电图(EEG)和密度谱阵列(DSA)读数的重要性。将我们的观察范围扩展到BIS数值之外,这并不总是可靠的。
    Incorrect bispectral index (BIS) values have been reported due to interference with this monitoring system. We report a case of a 46-year-old woman who underwent liposuction and breast lipofilling, where we observed a misinterpretation by the BIS algorithm that has not yet been reported. Concurrently with abdominal and thigh liposuction, an increase in the BIS value was observed. The importance of examining electroencephalogram (EEG) and density spectral array (DSA) readings during liposuction procedures is highlighted in this case report, extending our observations beyond just the numerical BIS value, which is not always reliable.
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  • 文章类型: Case Reports
    SATB1(MIM#602075)是一种相对较新的基因,仅在最近几年才报道与神经发育障碍相关,其特征是可变的面部畸形,全球发育迟缓,糟糕或缺席的演讲,改变的脑电图(EEG),和脑部成像异常。迄今为止,已经描述了44名患者/儿童中的大约30种变体,具有异质性的临床表现。在本研究中,我们描述了一个患有轻度智力障碍的新病人,言语障碍,以及脑电图和神经影像学上的非特异性异常。家庭研究确定了一个新的从头移码变体c.1818delG(第(Gln606Hisfs*101))在SATB1中。为了更好地定义所报告的不同类型的SATB1变体中的基因型-表型关联,我们回顾了患者和文献的临床数据,并比较了表现(癫痫活动,EEG异常和异常的脑成像)是由于错义变异而引起的,而不是由于功能丧失/过早终止变异而引起的。我们的分析表明,后一种变异与较不严重,与由于错义变异导致的更严重的表型相比,非特异性临床特征。这些发现为SATB1相关疾病提供了新的见解。
    SATB1 (MIM #602075) is a relatively new gene reported only in recent years in association with neurodevelopmental disorders characterized by variable facial dysmorphisms, global developmental delay, poor or absent speech, altered electroencephalogram (EEG), and brain abnormalities on imaging. To date about thirty variants in forty-four patients/children have been described, with a heterogeneous spectrum of clinical manifestations. In the present study, we describe a new patient affected by mild intellectual disability, speech disorder, and non-specific abnormalities on EEG and neuroimaging. Family studies identified a new de novo frameshift variant c.1818delG (p.(Gln606Hisfs*101)) in SATB1. To better define genotype-phenotype associations in the different types of reported SATB1 variants, we reviewed clinical data from our patient and from the literature and compared manifestations (epileptic activity, EEG abnormalities and abnormal brain imaging) due to missense variants versus those attributable to loss-of-function/premature termination variants. Our analyses showed that the latter variants are associated with less severe, non-specific clinical features when compared with the more severe phenotypes due to missense variants. These findings provide new insights into SATB1-related disorders.
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  • 文章类型: Case Reports
    背景:进行性肌阵挛性癫痫(PME)是一组罕见的疾病,很难根据表型特征相互区分。
    方法:我们报告了一例由于KCNC1的致病变异而导致的PME7型病例,癫痫发作后肌阵鸣改善。
    结论:癫痫发作后肌阵鸣的改善可能是诊断7型进行性肌阵挛性癫痫的线索。
    BACKGROUND: Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics.
    METHODS: We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures.
    CONCLUSIONS: Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.
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  • 文章类型: Case Reports
    KCNB1相关脑病以智力障碍(ID)为特征,自闭症谱系障碍和癫痫。目前还缺乏具体的治疗方法。我们描述了一个12岁的男孩,由于致病性KCNB1变异而患有严重的ID和抗治疗性癫痫发作。他的脑电图显示CSWS模式。11岁时,他开始接受高纯度大麻二酚(CBD)治疗,并已连续18个月无癫痫发作。脑电图和社交技能显著改善。这表明CBD可能会使CSWS受益,可能是由于其抗炎特性。一些临床前研究还表明CBD与电压门控通道相互作用,引导我们推测其治疗KCNB1相关性脑病的可能作用。
    KCNB1-associated encephalopathy is characterized by intellectual disability (ID), autism spectrum disorder and epilepsy. Specific treatments are still lacking. We describe a 12-year-old boy with severe ID and treatment-resistant seizures due to a pathogenic KCNB1 variant. His EEG showed a CSWS pattern. Aged 11, he started treatment with highly purified cannabidiol (CBD) and has been seizure free for 18 months, with significant EEG and social skills improvements. This suggests CBD may benefit CSWS, likely due to its anti-inflammatory properties. Some preclinical studies also indicate CBDs interact with voltage-gated channels, leading us to speculate its possible role for treating KCNB1 related encephalopathy.
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