Cerebrospinal fluid

脑脊液
  • 文章类型: Case Reports
    急性播散性脑脊髓炎(ADEM)的诊断具有挑战性,因为存在其他模拟其症状的医学状况以及缺乏精确的生物标志物。及时诊断对于开始适当的治疗至关重要,这提高了临床轨迹和长期预后。本研究的目的是强调重大关切,专门针对神经学家和放射科医生,由于识别这种疾病的困难。神经学家必须对当前诊断测试的临床表现和限制有广泛的了解。此外,这种理解对放射科医生来说同样重要,因为它是根据影像学发现进行精确诊断解释的基础。神经系统疾病的复杂性通常需要神经学家和放射科医师之间的合作努力,以确保精确的诊断和有效的治疗策略。本研究讨论了一例男性患者的临床诊断为ADEM,生物学和影像学评估。
    The diagnosis of acute disseminated encephalomyelitis (ADEM) is challenging due to the existence of other medical conditions that mimic its symptoms and the lack of precise biomarkers. Timely diagnosis is essential for commencing an appropriate treatment, which enhances the clinical trajectory and long-term prognosis. The purpose of the present study was to emphasize significant concerns, specifically for neurologists and radiologists, due to the difficulties involved in identifying this disorder. Neurologists must have an extensive understanding of the clinical manifestations and constraints of current diagnostic tests. Furthermore, this understanding is equally essential for radiologists, as it serves as the foundation for precise diagnostic interpretations derived from imaging findings. The intricate nature of neurological disorders frequently necessitates a cooperative effort between neurologists and radiologists to guarantee precise diagnosis and efficient therapy strategizing. The present study discusses a case of a male patient who was diagnosed with ADEM based on clinical, biological and imaging evaluations.
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  • 文章类型: Journal Article
    两名CSF分流系统患者表现出颅内压改变的症状。最初的神经成像导致误解,但结合临床病史和随访影像学显示了真正的诊断。在第一种情况下,减小的心室大小被误认为是脑脊液过度引流,而实际的问题是颅内压升高,如在狭缝心室综合征中所见。在第二种情况下,颅内高压的症状是由于脑脊液过度引流导致扁桃体移位和脑积水.调整腹膜分流压力可解决症状和影像学异常。这些病例强调了将临床表现与分流评估中对CSF动力学的深刻理解相关联的必要性。
    Two patients with CSF shunting systems exhibited symptoms of altered intracranial pressure. Initial neuroimaging led to misinterpretation, but integrating clinical history and follow-up imaging revealed the true diagnosis. In the first case, reduced ventricular size was mistaken for CSF overdrainage, while the actual problem was increased intracranial pressure, as seen in slit ventricle syndrome. In the second case, symptoms attributed to intracranial hypertension were due to CSF overdrainage causing tonsillar displacement and hydrocephalus. Adjusting the spinoperitoneal shunt pressure resolved symptoms and imaging abnormalities. These cases highlight the necessity of correlating clinical presentation with a deep understanding of CSF dynamics in shunt assessments.
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  • 文章类型: Case Reports
    在没有神经系统症状的情况下急性发展的痴呆症通常会被误诊为精神疾病。脑膜转移(LM),由恶性细胞扩散到软脑膜和蛛网膜下腔引起,在这种情况下,对精神科医生来说是一个相对陌生的条件。由于缺乏具有高灵敏度和特异性的诊断工具,LM的诊断仍然具有挑战性。
    我们介绍了一名70多岁的男性,继发于胃环细胞癌的LM的临床表现。患者表现为急性混乱状态,视觉幻觉,烦躁,和认知障碍超过3周。最初,病人被误诊为几种情况,包括酒精戒断综合征,精神病,和痴呆相关的谵妄,因为在神经系统检查或头部磁共振成像(MRI)上没有值得注意的发现。鉴于认知能力的快速进行性下降,我们对潜在的神经系统疾病保持警惕,并使用头部MRI和脑脊液分析进行重复调查,从而诊断为LM。
    这份危重病例报告强调了起源于胃癌的精神病发作性LM的罕见性,并强调了全面神经学评估的重要性。
    UNASSIGNED: Dementia that advances subacutely without accompanying neurological symptoms can often be misdiagnosed as a psychiatric condition. Leptomeningeal metastasis (LM), caused by the spread of malignant cells to the leptomeninges and the subarachnoid space, is a relatively unfamiliar condition to psychiatrists in this context. The diagnosis of LM remains challenging due to the scarcity of diagnostic tools possessing high sensitivity and specificity.
    UNASSIGNED: We present the clinical presentation of a male in his seventies with LM secondary to gastric ring cell carcinoma. The patient exhibited an acute confusional state, visual hallucinations, irritability, and cognitive impairments over a 3-week period. Initially, the patient was misdiagnosed with several conditions, including alcohol withdrawal syndrome, psychosis, and delirium associated with dementia, as there were no noteworthy findings on neurological examination or the head magnetic resonance imaging (MRI). Given the rapidly progressive cognitive decline, we maintained vigilance for potential neurological conditions, and a repeat investigation using head MRI and cerebrospinal fluid analysis led to the diagnosis of LM.
    UNASSIGNED: This critical case report underscores the rarity of psychiatric-onset LM originating from gastric cancer and highlights the importance of comprehensive neurological evaluations.
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  • 文章类型: Case Reports
    单纯疱疹性脑炎(HSVE)是一种潜在致命的传染性中枢神经系统(CNS)疾病。因此,早期发现是决定案件命运的关键。临床病史和检查,脑计算机断层扫描,动态对比增强磁共振成像(DCE-MRI),腰椎穿刺已经被用来建立诊断。本报告描述了一例HSVE,伴有低细胞脑脊液(CSF)和罕见的记忆障碍。然而,MRI结果与HSVE一致,和CSFPCR检测对治疗有反应的HSV-1DNA呈阳性。我们通常建议患者尽快开始抗病毒治疗,以避免并发症。
    Herpes simplex encephalitis (HSVE) is a potentially fatal infectious central nervous system (CNS) disorder. Thus, early detection is critical in determining the case\'s fate. Clinical history and examination, brain computed tomography, dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI), and lumbar puncture have been used to establish a diagnosis. This report describes a case of HSVE with hypocellular cerebrospinal fluid (CSF) and an uncommon form of memory impairment. However, MRI results were consistent with HSVE, and CSF PCR tested positive for HSV-1 DNA that responded to treatment. We routinely advise patients to begin antiviral therapy as soon as possible to avoid complications.
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  • 文章类型: Case Reports
    儿童的良性颅内高压(BIH)被认为是无脑积水或颅内肿块的颅内压升高。它在成年人中表现不同,对性别或体重没有明显偏好。头痛,乳头水肿,并可能伴有视野缺损的第六神经麻痹是该综合征的典型症状。维生素A毒性是BIH的罕见原因。我们报告了一个以前健康的13岁女孩,表现为畏光,额头头痛,和呕吐。她有通过眼底镜检查发现的双侧乳头水肿。磁共振成像和脑部CT均正常。入院时,腰椎穿刺(LP)显示开放压力为26cmH2O,脑脊液(CSF)分析正常。BIH的诊断成立,开始用乙酰唑胺治疗,具有良好的临床效果。定期的眼睛评估显示乳头水肿消退。血清维生素A水平升高是唯一的阳性发现。两周内,病人出院,没有任何症状。这项研究旨在引起临床医生的注意,在接受正常神经放射学检查的儿童中,在乳头水肿和动眼问题的背景下评估维生素A毒性的重要性。
    Benign intracranial hypertension (BIH) in children is recognized as elevated intracranial pressure without hydrocephalus or intracranial mass. It manifests differently in adults, with no apparent predilection for sex or weight. Headache, papilledema, and possibly sixth nerve palsy with visual field defects are the typical symptoms of this syndrome. Vitamin A toxicity is a rare cause of BIH. We report the case of a previously healthy 13-year-old girl presenting with photophobia, a frontal headache, and vomiting. She had bilateral papilledema discovered by fundoscopy. Both magnetic resonance imaging and brain CT were normal. At admission, a lumbar puncture (LP) revealed an opening pressure of 26 cm H2O with normal cerebrospinal fluid (CSF) analysis. The diagnosis of BIH was established, and treatment with acetazolamide was started, with good clinical results. Regular eye evaluations showed a regression of papilledema. Elevated serum vitamin A levels were the only positive findings. Within two weeks, the patient was discharged without any symptoms. This study aims to attract the attention of clinicians to the importance of evaluating vitamin A toxicity in the context of papilledema and oculomotor problems in a child who has undergone normal neuroradiological investigations.
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  • 文章类型: Journal Article
    背景:ChiariI畸形,以严重的头痛和潜在的脑干/脊髓问题为标志,当保守方法失败时,通常需要手术干预。这项研究介绍了一种利用3叶片牵开器的微创手术(MIS)Chiari减压技术,旨在减少术后不适并优化结果。
    方法:包括接受MIS技术的Chiari1型畸形患者。技术包括使用三叶片牵开器的最小软组织开口,枕下骨瓣切除术,C1椎板切除术,并切除无硬骨切开术的寰枕带。
    结果:10例患者接受治疗。平均年龄为43.3岁,其中7名女性。所有患者都出现枕骨头痛,50%眶后疼痛,40%颈部,上背部或肩部疼痛,和30%的肢体感觉异常。术前改良Rankin量表(mRS)中位数为3(2-4),疼痛视觉模拟评分(VAS)为7(5-9)。平均手术时间为59(59-71)分钟,平均失血量为88.5(50-140)mL。90%的患者在同一手术日出院(术后平均7.2[5.3-7.7]小时)。没有证据表明术后立即或延迟的并发症。6个月时,90%的患者有mRS0-1。末次随访时VAS平均值为1.5(范围0-4,p<0.001)。
    结论:MIS3刀式柔性牵开器技术用于Chiari减压是可行的,提供枕下区域和C1弓的宽可视化角度,允许两名外科医生工作,并最大限度地减少皮肤和软组织的破坏。这种组合可以减少术后的不适,降低手术部位感染的风险,优化结果。
    BACKGROUND: Chiari I malformation, marked by severe headaches and potential brainstem/spinal cord issues, often requires surgical intervention when conservative methods fail. This study introduces a minimally invasive surgery (MIS) Chiari decompression technique utilizing a 3-blade retractor, aiming to reduce postoperative discomfort and optimize outcomes.
    METHODS: Chiari type I malformation patients who underwent a MIS technique were included. Technique consisted of a minimal-soft tissue opening using a 3-blade retractor, suboccipital craniectomy, C1 laminectomy, and resection of the atlantooccipital band without a durotomy.
    RESULTS: Ten patients were treated. Mean age was 43.3 years, with 7 female patients. All patients presented with occipital headaches; 50% retroorbital pain; 40% neck, upper back, or shoulder pain; and 30% limb paresthesias. Median pre-surgical modified Rankin Scale (mRS) was 3 (2-4) and pain visual analog score (VAS) was 7 (5-9). Mean operative time was 59 (59-71) minutes, with mean blood loss of 88.5 (50-140) mL. In our sample, 90% of patients were discharged the same surgical day (mean 7.2 [5.3-7.7] hours postoperative). No immediate or delayed postoperative complications were evidenced. At 6 months, 90% of patients had mRS 0-1. At last follow-up the mean VAS was 1.5 (range: 0-4, P < 0.001).
    CONCLUSIONS: The MIS 3-blade flexible retractor technique for Chiari decompression is feasible, provides wide visualization angles of the suboccipital region and C1 arch, allows 2-surgeon work, and minimizes skin and soft tissue disruption. This combination may diminish postoperative discomfort, reduce the risk of surgical site infections, and optimize outcomes.
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  • 文章类型: Case Reports
    基于分子的靶向治疗对某些癌症患者有显著的益处;然而,患有软脑膜疾病(LMD)的患者持续表现出不良预后,通常被排除在临床试验之外.肿瘤来源的无细胞(cf)DNA,在LMD患者的脑脊液(CSF)中发现,可以协助诊断和跟踪疾病进展。然而,使用CSF指导靶向癌症治疗尚待广泛探索.本研究报告了一名患有肺腺癌和LMD的患者,该患者通过对CSF和血液进行一系列液体活检来进行监测。对来自CSF和血浆的cfDNA进行靶向测序,并结合患者的临床表现对BRAF和NRAS突变的变异等位基因频率(VAFs)进行评估和分析.然后病人接受了连续化疗,放射治疗,基于液体活检结果的免疫治疗和靶向治疗。在LMD诊断后,在血浆cfDNA中检测到BRAFp.V600E突变。因此,患者接受vemurafenib治疗,持续13个月对巩固治疗反应良好.在2018年7月复发后,在CSF上清液和沉淀细胞样品中检测到BRAFp.V600E和NRASp.Q61K突变,提示耐药性。因此,患者的治疗策略改为cobimetnib+vemurafenib。值得注意的是,CSF上清液中VAF的变化与患者的临床状况相关。患者在LMD诊断后存活33个月。本病例报告强调了液体活检在个性化治疗中的潜在用途,因为它有助于告知患者的联合治疗计划,最终证明是有益的。
    Molecular-based targeted therapies have significantly benefited certain patients with cancer; however, those with leptomeningeal disease (LMD) persistently exhibit a poor prognosis and are often excluded from clinical trials. Tumor-derived cell-free (cf)DNA, found in the cerebrospinal fluid (CSF) of patients with LMD, can assist in diagnosis and tracking of disease progression. However, the utilization of CSF to direct targeted cancer therapy has yet to be extensively explored. The present study reported the case of a patient with lung adenocarcinoma and LMD who was monitored by performing a series of liquid biopsies of CSF and blood. Targeted sequencing was performed on cfDNA from the CSF and plasma, and the variant allele frequencies (VAFs) of BRAF and NRAS mutations were assessed and analyzed in conjunction with the clinical presentation of the patient. The patient then underwent serial chemotherapy, radiation therapy, immunotherapy and targeted treatment based on the results of the liquid biopsies. Upon the LMD diagnosis, a BRAF p.V600E mutation was detected in plasma cfDNA. Consequently, the patient was treated with vemurafenib and responded favorably to this consolidation treatment for 13 months. After a relapse in July 2018, both BRAF p.V600E and NRAS p.Q61K mutations were detected in CSF supernatant and sediment cell samples, suggesting drug resistance. Therefore, the treatment strategy for the patient changed to cobimetnib plus vemurafenib. Notably, the changes of VAF in the CSF supernatant samples were associated with the clinical status of the patient. The patient survived for 33 months post-LMD diagnosis. The present case report highlights the potential use of liquid biopsy in personalized therapy, as it was instrumental in informing the combinational treatment plan of the patient, which ultimately proved beneficial.
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  • 文章类型: Journal Article
    背景:这项探索性研究调查了双相情感障碍(BD)的脑脊液(CSF)突触蛋白生物标志物,旨在突出该疾病的神经生物学基础。BD和阿尔茨海默病具有共同的认知障碍特征,考虑到BD患者痴呆风险增加,这项研究探索了潜在的联系。
    方法:对59名具有良好特征的BD患者和37名健康对照者进行了检查并随访一年。包含神经元五聚素(NPTX)1,NPTX2和NPTX受体的突触蛋白,14-3-3蛋白家族ε,和zeta/delta,激活蛋白-2复合物亚基β,突触核蛋白β-突触核蛋白和γ-突触核蛋白,complexin-2,磷脂酰乙醇胺结合蛋白1,rabGDP解离抑制剂α,使用微流液相色谱-质谱多反应监测装置在CSF中测量了突触素1B和7。比较BD和HC之间以及BD之前的生物标志物水平,during,在情绪发作之后。
    结果:突触蛋白显示BD和HC之间没有统计学上的显着差异,无论是在基线,一年的随访,或从基线到后续行动的变化。此外,与基线相比,BD患者的CSF突触蛋白水平在情感发作后和1年随访时稳定在正常状态时没有改变.
    结论:由于我们还不知道这些蛋白质的释放机制,因此尚不确定CSF生物标志物浓度反映了什么。我们不确定水平的增加或减少反映了什么。
    结论:首次对一组BD和HC患者的突触功能障碍的CSF蛋白生物标志物进行研究发现,在横截面或纵向上没有统计学上的显著差异。
    BACKGROUND: This exploratory study investigated cerebrospinal fluid (CSF) synaptic protein biomarkers in bipolar disorder (BD), aiming to highlight the neurobiological basis of the disorder. With shared cognitive impairment features between BD and Alzheimer\'s disease, and considering increased dementia risk in BD patients, the study explores potential connections.
    METHODS: Fifty-nine well-characterized patients with BD and thirty-seven healthy control individuals were examined and followed for one year. Synaptic proteins encompassing neuronal pentraxins (NPTX)1, NPTX2, and NPTX-receptor, 14-3-3 protein family epsilon, and zeta/delta, activating protein-2 complex subunit beta, synucleins beta-synuclein and gamma-synuclein, complexin-2, phosphatidylethanolamine-binding protein 1, rab GDP dissociation inhibitor alpha, and syntaxins 1B and 7 were measured in CSF using a microflow liquid chromatography-mass spectrometric multiple reaction monitoring set-up. Biomarker levels were compared between BD and HC and in BD before, during, and after mood episodes.
    RESULTS: The synaptic proteins revealed no statistically significant differences between BD and HC, neither at baseline, one-year follow-up, or in terms of changes from baseline to follow-up. Moreover, the CSF synaptic protein levels in patients with BD were unaltered compared to baseline when they stabilized in euthymia following an affective episode and at one-year follow-up.
    CONCLUSIONS: It is uncertain what the CSF biomarker concentrations reflect since we yet do not know the mechanisms of release of these proteins, and we are uncertain of what increased or decreased levels reflect.
    CONCLUSIONS: This first-ever investigation of a panel of CSF protein biomarkers of synaptic dysfunction in patients with BD and HC individuals found no statistically significant differences cross-sectionally or longitudinally.
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  • 文章类型: Case Reports
    在有急性精神症状的年轻患者中迅速识别和治疗抗N-甲基-D-天冬氨酸受体脑炎,癫痫发作,神经缺陷至关重要。及时的免疫调节治疗对于积极的结果和减少长期并发症至关重要。高度怀疑这种罕见的疾病对于及时诊断和最佳护理是必要的。
    抗N-甲基-D-天冬氨酸(NMDA)受体脑炎的特征是存在抗NMDA受体的抗体,突触信号的重要组成部分。这种自身免疫性疾病通常表现为精神症状,癫痫发作,和神经缺陷。早期诊断至关重要,延迟治疗会导致严重的并发症。在这种情况下,患者接受了皮质类固醇和静脉注射免疫球蛋白(IVIG),导致成功的恢复,没有缠绵的神经异常。迅速开始治疗突出了早期认识到这种情况的重要性。抗NMDA受体脑炎是一种罕见的自身免疫性疾病,表现出一系列神经系统症状。在这个案例报告中,我们通过讨论一名23岁女性急性发作性躁动的急诊室就诊,强调早期识别和治疗的重要性,迷失方向,和癫痫发作。一个23岁的女人,急性发作性躁动被送到急诊室,迷失方向,和癫痫发作。磁共振成像(MRI)扫描显示颞叶信号改变,脑电图(EEG)显示广泛的活动减慢。重要的是,在血清和脑脊液中检测到抗NMDA受体抗体,确认抗NMDA受体脑炎的诊断。本案例报告强调了理解演示文稿的重要性,诊断,和抗NMDA受体脑炎的治疗。及时的识别和干预对于在这种罕见但临床上重要的自身免疫性疾病患者中获得有利的结果至关重要。提高医疗保健专业人员的认识对于确保早期诊断和及时启动适当的治疗策略至关重要。
    UNASSIGNED: Prompt identification and management of anti-N-methyl-D-aspartate receptor encephalitis in young patients with acute psychiatric symptoms, seizures, and neurological deficits are crucial. Timely immunomodulatory therapy is essential for positive outcomes and minimizing long-term complications. High suspicion for this rare disorder is necessary for timely diagnosis and optimal care.
    UNASSIGNED: Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is characterized by the presence of antibodies against the NMDA receptor, a crucial component of synaptic signaling. This autoimmune disorder often manifests with psychiatric symptoms, seizures, and neurological deficits. Early diagnosis is essential, as delayed treatment can result in severe complications. In this case, the patient received corticosteroids and intravenous immunoglobulin (IVIG), leading to a successful recovery with no lingering neurological abnormalities. The prompt initiation of treatment highlights the importance of recognizing this condition early. Anti-NMDA receptor encephalitis is a rare autoimmune disorder that presents with a range of neurological symptoms. In this case report, we highlight the significance of early recognition and treatment by discussing the emergency room visit of a 23-year-old woman who presented with acute-onset agitation, disorientation, and seizures. A 23-year-old woman, presented to the emergency room with acute-onset agitation, disorientation, and seizures. Magnetic resonance imaging (MRI) scans revealed temporal lobe signal alterations and electroencephalogram (EEG) showed widespread activity slowing. Importantly, anti-NMDA receptor antibodies were detected in both serum and cerebrospinal fluid, confirming the diagnosis of anti-NMDA receptor encephalitis. This case report underscores the significance of understanding the presentation, diagnosis, and treatment of anti-NMDA receptor encephalitis. Timely recognition and intervention are crucial for achieving favorable outcomes in patients with this rare but clinically important autoimmune disorder. Increased awareness among healthcare professionals is essential to ensure early diagnosis and prompt initiation of appropriate treatment strategies.
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  • 文章类型: Case Reports
    慢性无菌性脑膜炎的病因很难确定。尤其是念珠菌脑膜炎通常被诊断为晚期,脑脊液(CSF)检查和影像学检查结果是非特异性的。一名35岁的慢性无菌性脑膜炎患者,对CSF进行反复的微生物测试并没有发现,最终被诊断为白色念珠菌(C.白色念珠菌)使用宏基因组下一代测序(mNGS)参与马尾神经的脑膜炎。本报告强调了治疗分流相关真菌性脑膜炎的诊断挑战和困难。
    The aetiology of chronic aseptic meningitis is difficult to establish. Candida meningitis in particular is often diagnosed late, as cerebrospinal fluid (CSF) work-up and imaging findings are nonspecific. A 35-year-old patient with chronic aseptic meningitis, for which repeated microbiological testing of CSF was unrevealing, was finally diagnosed with Candida albicans (C. albicans) meningitis with cauda equina involvement using metagenomic next-generation sequencing (mNGS). This report highlights the diagnostic challenges and the difficulties of treating shunt-associated fungal meningitis.
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