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Regional cerebral blood flow in a patient with asystole episodes associated with anti-NMDA receptor encephalitis. 与抗 NMDA 受体脑炎相关的一名晕厥发作患者的区域脑血流。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-08-01 Epub Date: 2024-04-27 DOI: 10.1080/13554794.2024.2348221
Gaku Aboshi, Takaki Akahane, Keisuke Noto, Ryota Kobayashi, Masakazu Akiho, Akihito Suzuki

Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is a rare and severe autoimmune encephalitis that displays neuropsychiatric symptoms and autonomic instability, e.g., hypoventilation and cardiac arrhythmia. Severe arrhythmia including asystole associated with this encephalitis is rare. Several causes have been suggested. Nevertheless, no report of the literature has described examination by functional brain imaging of a patient with asystole during anti-NMDA receptor encephalitis. This case is that of a 34-year-old woman diagnosed as having anti-NMDA receptor encephalitis. She repeatedly showed 10-20 s asystole episodes necessitating a temporary transvenous pacemaker. After resection of the bilateral ovarian cystic tumor, her symptoms improved. Regional cerebral blood flow (rCBF) was evaluated using single-photon emission computed tomography. The rCBF was increased in the amygdala, hypothalamus, anterior cingulate, hippocampus, and anterior temporal lobes, but decreased in the dorsolateral frontal lobes, parietal lobes, and occipital lobes. Findings in this case suggest that altered rCBF in the patient with asystole episodes associated with anti-NMDA receptor encephalitis was observed in several brain lesions. The rCBF increases in the central autonomic networks, i.e., the amygdala, hypothalamus, and anterior cingulate, might be associated with dysregulation of sympathetic and parasympathetic nervous systems leading to asystole.

抗 N-甲基-D-天冬氨酸(NMDA)受体脑炎是一种罕见的严重自身免疫性脑炎,表现为神经精神症状和自主神经不稳定,如通气不足和心律失常。与这种脑炎相关的严重心律失常(包括心搏骤停)十分罕见。有几种病因被提出。然而,还没有文献报告描述过通过脑功能成像检查抗 NMDA 受体脑炎期间出现心搏骤停的患者。本病例是一名 34 岁女性,被诊断为抗 NMDA 受体脑炎。她反复出现 10-20 秒的心跳骤停发作,不得不使用临时经静脉起搏器。切除双侧卵巢囊性肿瘤后,她的症状有所改善。单光子发射计算机断层扫描评估了区域脑血流(rCBF)。杏仁核、下丘脑、前扣带回、海马和前颞叶的rCBF增加,但背外侧额叶、顶叶和枕叶的rCBF减少。本病例的研究结果表明,在与抗 NMDA 受体脑炎相关的阵挛发作患者的多个脑损伤部位都观察到了 rCBF 的改变。中枢自律神经网络(即杏仁核、下丘脑和前扣带回)的rCBF增加可能与交感和副交感神经系统失调导致晕厥有关。
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引用次数: 0
Lissencephaly: presentation of a clinical case of LIS 1 with a diagnosis confirmed by MLPA method and indications for rehabilitation treatment in childhood. 无脑畸形:介绍一例通过 MLPA 方法确诊的 LIS 1 临床病例,以及儿童康复治疗的适应症。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-08-01 Epub Date: 2024-05-03 DOI: 10.1080/13554794.2024.2346985
Rita Abrunzo

Lissencephaly is a very rare clinical condition that affects the formation of the brain and causes severe psychomotor retardation, convulsions and muscular spasticity or hypotonia, often also associated with respiratory problems, facial dysmorphisms, abnormalities of the fingers and toes and difficulty swallowing resulting in reduced life expectancy. The clinical case described in the following article demonstrates the diagnostic process and rehabilitation treatment of a patient through a narrative review of the scientific literature and the presentation of this condition in order to provide indications to guide rehabilitation treatment in childhood.

无脑畸形是一种非常罕见的临床病症,会影响大脑的形成,导致严重的精神运动发育迟缓、抽搐和肌肉痉挛或肌张力低下,通常还伴有呼吸系统问题、面部畸形、手指和脚趾畸形以及吞咽困难,从而导致预期寿命缩短。下文中描述的临床病例通过对科学文献的叙述性回顾和这一病症的表现形式,展示了患者的诊断过程和康复治疗,从而为指导儿童康复治疗提供指征。
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引用次数: 0
A case of Pitt-Hopkins syndrome: psychopharmacological approach for anxiety, insomnia, and agitation. 一例皮特-霍普金斯综合征:焦虑、失眠和躁动的精神药物治疗方法。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-08-01 Epub Date: 2024-05-03 DOI: 10.1080/13554794.2024.2348230
Cemre Istanbullu, Binay Kayan Ocakoglu, Gul Karacetin

Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder resulting from TCF4 gene mutations which is characterized by dysmorphic facial features, psychomotor delay, intellectual disability, breathing anomalies, and seizures. Psychiatric conditions are occasionally seen. We present the case report of a seven-year-old PTHS patient with anxiety, insomnia, and agitation. We discuss the psychopharmacological intervention options for this patient. The present case study reports on a 7-year-old female with PTHS, autism spectrum disorder (ASD), and intellectual disability. She had insomnia, crying spells and agitation complaints. For anxiety symptoms and agitation, risperidone, fluoxetine, and clonazepam treatment were given by the neurologist which caused behavioral disinhibition, paroxysmal agitation and no benefit. After admission to our hospital, aripiprazole and hydroxyzine were prescribed for anxiety and ASD-related irritability. She showed a minimal improvement but hyperventilation attacks were still ongoing. Hydroxyzine was stopped, and quetiapine was given to eliminate sleep disturbance. Her sleep period went up to eleven hours. For the anxiety symptoms, escitalopram was prescribed. She showed improvements in sleep, diminished hyperactivity and decreased frequency of abnormal breathing spells. Also, enhancement of social communication skills like increased eye contact and response to her name was observed. Patients with genetic syndromes may have various psychiatric complaints. Psychopharmacological interventions should be administered carefully for the side effects.

皮特-霍普金斯综合征(Pitt-Hopkins Syndrome,PTHS)是一种因 TCF4 基因突变而导致的罕见遗传性疾病,其特征是面部畸形、精神运动迟缓、智力障碍、呼吸异常和癫痫发作。偶尔也会出现精神症状。我们报告了一名 7 岁 PTHS 患者的病例,该患者伴有焦虑、失眠和躁动。我们讨论了对该患者的精神药物干预方案。本病例研究报告的患者是一名 7 岁女性,患有 PTHS、自闭症谱系障碍(ASD)和智力障碍。她主诉失眠、哭闹和躁动。针对焦虑症状和躁动,神经科医生给予利培酮、氟西汀和氯硝西泮治疗,但均导致行为抑制、阵发性躁动,且无任何疗效。入院后,神经科医生给她开了阿立哌唑和羟嗪来治疗焦虑和与自闭症有关的易激惹。她的病情略有好转,但过度换气发作仍在持续。我们停用了羟嗪,并服用了喹硫平来消除睡眠障碍。她的睡眠时间延长至 11 小时。针对焦虑症状,医生给她开了艾司西酞普兰。她的睡眠状况有所改善,多动现象减少,异常呼吸频率降低。此外,她的社交沟通能力也得到了提高,比如眼神交流增多了,对自己的名字也有了反应。遗传综合征患者可能会有各种精神症状。应谨慎使用精神药物干预,以防产生副作用。
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引用次数: 0
Neglecting the bottom space: an object-based disorder? A two-case observational study. 忽视底部空间:基于物体的失调?两例观察研究。
IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-08-01 Epub Date: 2024-02-26 DOI: 10.1080/13554794.2024.2315860
Jennifer Martin, Patrik Vuilleumier, Frédéric Assal, Roberta Ronchi

Altitudinal neglect is an atypical form of spatial neglect where brain-damaged patients neglect the lower, or sometimes the upper, part of the space. Our understanding of this phenomena is limited, with unknown occurrence across different reference frames, such as distance (peripersonal vs. extrapersonal) and system of reference (egocentric vs. allocentric). Two patients with acute bilateral (P1) or right hemispheric (P2) stroke, with signs of bottom altitudinal neglect, underwent an extensive evaluation of neglect within 10 days post-stroke. Assessments involved altitudinal neglect and unilateral spatial neglect (USN) in peripersonal space, exploring egocentric and allocentric signs and in extrapersonal space. Compared to a control group of 15 healthy age-matched subjects, patients showed allocentric and egocentric left USN in peripersonal space, and mostly allocentric signs of altitudinal neglect. No signs of neglect were evidenced in extrapersonal space. Altitudinal neglect could thus present as an allocentric form of spatial neglect, suggesting that allocentric representations may not only affect the deployment of attentional resources along horizontal dimensions but also operate along vertical dimensions. Future studies should deepen our understanding of altitudinal neglect, eventually leading to further unravel spatial processes that control attention, their corresponding brain mechanisms, and implications for patients' rehabilitation and functional outcome.

纵向忽视是一种非典型的空间忽视,脑损伤患者会忽视空间的下部,有时也会忽视空间的上部。我们对这一现象的了解还很有限,不同参照系(如距离(人周与人外)和参照系统(以自我为中心与以分配为中心))下出现的情况也不尽相同。两名急性双侧中风(P1)或右半球中风(P2)的患者在中风后 10 天内接受了广泛的忽视评估。评估内容包括个人周围空间的高度忽视和单侧空间忽视(USN)、探索自我中心和分配中心迹象以及个人外部空间。与由 15 名年龄匹配的健康受试者组成的对照组相比,患者在人周空间中表现出以分配为中心和以自我为中心的左侧单侧空间忽略,而在高度空间中则主要表现出以分配为中心的单侧空间忽略。在人外空间则没有表现出忽视的迹象。因此,纵向忽视可能是空间忽视的一种分配中心形式,这表明分配中心表征可能不仅会影响注意力资源在水平维度上的部署,而且也会在垂直维度上发挥作用。未来的研究将加深我们对纵向忽视的理解,最终进一步揭示控制注意力的空间过程、相应的大脑机制以及对患者康复和功能预后的影响。
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引用次数: 0
Cortical blindness after percutaneous vertebroplasty: a case report and comprehensive review of the literature. 经皮椎体成形术后的皮质盲:病例报告和文献综述。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-08-01 Epub Date: 2024-04-30 DOI: 10.1080/13554794.2024.2346984
Chunnan Shi, Zhijie Wang, Meiying Lin, Zhiqin Chen, Peiyang Xu, Yi Li, Jinshan Zhang

Objective: Many complications but cortical blindness after percutaneous vertebroplasty has been rarely reported. Here, we describe a case who developed cortical blindness after percutaneous vertebroplasty. We also reviewed the literature to find the possible causes of this complication and its treatment.

Methods: Case report and literature review.

Results: A 71-year-old woman experienced cortical blindness after percutaneous vertebroplast. She developed dizziness, nausea, sweating, blood pressure changes, and vision loss during the procedure. MRI confirmed bilateral cerebral infarctions. The patient recovered with conservative treatment.

Conclusions: Percutaneous vertebroplasty, though helpful, carries a rare risk of cortical blindness. Surgeon awareness is crucial for informing patients of this potential complication.

目的:经皮椎体成形术的并发症很多,但皮质盲症却鲜有报道。在此,我们描述了一例经皮椎体成形术后出现皮质盲的病例。我们还回顾了相关文献,以找出这种并发症的可能原因及其治疗方法:方法:病例报告和文献综述:结果:一名 71 岁的女性在经皮椎体成形术后出现皮质盲。她在手术过程中出现头晕、恶心、出汗、血压变化和视力下降。磁共振成像证实双侧脑梗塞。患者经保守治疗后康复:结论:经皮椎体成形术虽然有帮助,但存在皮质失明的罕见风险。外科医生的认识对于告知患者这一潜在并发症至关重要。
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引用次数: 0
The effects of deep transcranial magnetic stimulation on Alzheimer's disease: a case report examining cognitive functioning, memory, and QEEG. 深部经颅磁刺激对阿尔茨海默病的影响:一份研究认知功能、记忆和 QEEG 的病例报告。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-06-01 Epub Date: 2024-04-27 DOI: 10.1080/13554794.2024.2346987
Nathaniel A Shanok, Sabrina Muzac, Brittany Derbin, Enis Cabeza, Raul Rodriguez

Numerous treatment options are being studied for Alzheimer's disease (AD) given the rising prevalence of this condition worldwide. Transcranial Magnetic Stimulation (TMS) is a promising option for regulating specific neurological abnormalities pertaining to this condition. This case presents a patient with AD and co-occurring major depressive disorder that received 36 sessions of Deep TMS to the frontal and temporal lobes. This patient experienced improved general cognitive functioning and memory, remission from depression, and reduced slow-frequency theta activity in frontal and temporal sites. Following 7 months of weekly maintenance, additional improvements occurred. This report suggests that Deep TMS may be effective in mitigating AD symptoms, and maintenance sessions are advisable.

鉴于阿尔茨海默病(AD)在全球的发病率不断上升,目前正在研究多种治疗方案。经颅磁刺激(TMS)是调节与这种疾病相关的特定神经异常的一种很有前景的选择。本病例介绍的是一名患有注意力缺失症并伴有重度抑郁症的患者,该患者接受了 36 次额叶和颞叶深度经颅磁刺激治疗。该患者的一般认知功能和记忆力得到改善,抑郁症得到缓解,额叶和颞叶部位的慢频θ活动减少。在每周坚持治疗 7 个月后,患者的病情又有了进一步的改善。该报告表明,深部 TMS 可有效缓解注意力缺失症的症状,因此建议患者坚持治疗。
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引用次数: 0
Alcohol-related posterior reversible encephalopathy syndrome: a case report of a patient managed with a benzodiazepine-sparing regimen for alcohol withdrawal. 与酒精相关的后可逆性脑病综合征:一例使用苯并二氮杂卓戒酒方案治疗患者的病例报告。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-06-01 Epub Date: 2024-05-03 DOI: 10.1080/13554794.2024.2346365
Rafail A Chionatos, David P Lerner, Joseph D Burns, Anil Ramineni

We report a case of posterior reversible encephalopathy syndrome (PRES) during treatment for alcohol withdrawal syndrome with gabapentin and clonidine. The patient developed severe hypertension, confusion and tremor, culminating in bilateral vision loss and a seizure. Imaging revealed posterior cerebral edema. Treatment with benzodiazepines, antihypertensives, and anti-seizure medications led to resolution. One year later, imaging showed resolution of the findings. We review the associated literature and propose the recognition of a PRES sub-entity, Alcohol-Related PRES (ARPRES), which can appear in the setting of alcohol withdrawal syndrome, chronic alcohol use, and acute alcohol intoxication, with or without hypertension.

我们报告了一例在使用加巴喷丁和氯尼丁治疗酒精戒断综合征期间出现的后可逆性脑病综合征(PRES)病例。患者出现严重的高血压、意识模糊和震颤,最终导致双侧视力丧失和癫痫发作。影像学检查显示其脑后水肿。使用苯二氮卓、降压药和抗癫痫药物治疗后,症状得到缓解。一年后,影像学检查结果显示病情得到缓解。我们回顾了相关文献,并提出了一个 PRES 亚病种,即酒精相关 PRES(ARPRES),它可以出现在酒精戒断综合征、慢性饮酒和急性酒精中毒的情况下,伴有或不伴有高血压。
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引用次数: 0
Developments of possible clinical diagnostic methods for parkinson's disease: event-related potentials. 帕金森病可能临床诊断方法的发展:事件相关电位。
IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-06-01 Epub Date: 2024-04-27 DOI: 10.1080/13554794.2024.2345404
Burcak Yavuz, Emir Rusen, Tugce Duman, Berra Bas

In this study, Event-Related Potential (ERP) analyzes were performed to detect cognitive impairments in PD with Deep Brain Stimulation (DBS). A total of 85 volunteers underwent ERP analysis and neuropsychological testing (NPT) to determine cognitive level. In ERP analyses, prolonged latencies were observed in PD groups. However, patients implanted with DBS showed a decrease in latencies, a decrease in symptoms and statistical improvements in both cognitive and attention skills. Considering all these data, ERP results are promising as a noninvasive method that can be used in both disease status and diagnosis of PD.

本研究通过对事件相关电位(ERP)进行分析,来检测接受深部脑刺激(DBS)的帕金森病患者的认知障碍。共有85名志愿者接受了ERP分析和神经心理学测试(NPT),以确定其认知水平。在 ERP 分析中,观察到帕金森病组的潜伏期延长。然而,植入 DBS 的患者的潜伏期缩短,症状减轻,认知和注意力技能均有统计学改善。考虑到所有这些数据,ERP的结果很有希望成为一种无创方法,可用于疾病状态和帕金森病的诊断。
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引用次数: 0
Atypical isolated cataplexy: two case reports and a mini-review. 非典型孤立性惊厥:两份病例报告和一篇小型综述。
IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-06-01 Epub Date: 2024-04-27 DOI: 10.1080/13554794.2024.2347606
Vinay Mandagere, Dane Rayment

Cataplexy is the sudden loss of muscle tone often provoked by emotion such as laughter or excitement. Cataplexy is one of the essential diagnostic features of Narcolepsy type 1 (NT1). We describe two cases of isolated cataplexy with different outcomes, highlighting the diagnostic and prognostic challenges. There is conflicting literature as to whether it is a legitimate standalone diagnosis or an early warning sign of narcolepsy. Our cases do not fit with current diagnostic criteria for narcolepsy, yet still share some clinical or laboratory features. These ambiguous cases question what the mechanistic relationship between narcolepsy and cataplexy may be.

惊厥是指肌肉张力突然丧失,通常由大笑或兴奋等情绪引起。惊厥是 1 型嗜睡症(NT1)的基本诊断特征之一。我们描述了两例结果不同的孤立性惊厥病例,强调了诊断和预后方面的挑战。关于它是一种合法的独立诊断,还是嗜睡症的早期预警信号,目前存在相互矛盾的文献。我们的病例不符合当前的嗜睡症诊断标准,但仍具有一些临床或实验室特征。这些模棱两可的病例对嗜睡症和惊厥之间的机理关系提出了质疑。
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引用次数: 0
When prion disease Isn't suspected: prion disease as the cause of terminal decline in chronic mixed dementia. 当朊病毒病不被怀疑时:朊病毒病是慢性混合型痴呆症终末衰退的原因。
IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-06-01 Epub Date: 2024-04-30 DOI: 10.1080/13554794.2024.2346990
Sudarshan Krishnamurthy, William Harrison, Suzanne Craft, Samuel N Lockhart, James R Bateman

Alzheimer's Disease (AD) is the most common cause of dementia, although multiple pathologies are found in nearly half of the cases with clinically diagnosed AD. Prion diseases, such as Creutzfeldt-Jakob disease (CJD), are rare causes of dementia and typically manifest as a rapidly progressive dementia, where symptom onset to dementia most often occurs over the course of months. In this brief report, we describe a patient's typically progressive dementia with a precipitous decline at the end of their life who, on neuropathological evaluation, was found to have multiple neurodegenerative proteinopathies as well as spongiform encephalopathy due to CJD. This case of unsuspected CJD highlights a rare, but epidemiologically important, cause of sudden decline in well-established neurodegenerative dementias.

阿尔茨海默病(AD)是最常见的痴呆症病因,但在临床诊断为阿尔茨海默病的病例中,近一半的患者存在多种病变。克雅氏病(CJD)等朊病毒病是导致痴呆症的罕见病因,通常表现为快速进展性痴呆症,从症状出现到痴呆症的发生往往持续数月。在这篇简短的报告中,我们描述了一名患者典型的进行性痴呆,在生命的最后阶段病情急剧下降,经神经病理学评估发现,该患者患有多种神经退行性蛋白病以及由 CJD 引起的海绵状脑病。这例未被察觉的脊髓灰质炎病例凸显了一种罕见的、但在流行病学上却非常重要的原因,即已被证实的神经退行性痴呆症的突然衰退。
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引用次数: 0
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Neurocase
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