Cerebellar Diseases

小脑疾病
  • DOI:
    文章类型: Case Reports
    急性小脑炎(AC)通常是一种副感染性炎症过程,通常表现为可变的临床表现;通常伴有发烧,恶心,头痛,精神状态改变,步态异常,协调缺陷。它通常是感染过程的并发症或感染后自身免疫机制的结果。我们报告了一例3岁的A型流感男性,他表现出急性脑炎图像,其病程和放射学研究表明小脑变化与AC强烈兼容。
    Acute cerebellitis (AC) is often a para-infectious inflammatory process that usually presents with a variable clinical picture; often with fever, nausea, headache, altered mental status, gait abnormalities, and coordination defects. It is usually a complication of an infectious process or as a result of post-infectious autoimmune mechanisms. We report a case of a 3 year old male with influenza A who presented with an acute encephalitic picture whose course and radiologic studies demonstrate cerebellar changes strongly compatible with AC.
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  • 文章类型: Systematic Review
    背景:自发性脑出血最致命的类型是自发性小脑出血(SCH)。本Meta分析旨在探讨SCH患者预后的危险因素,为采取防治措施提供依据。
    方法:从开始到2023年5月搜索了七个电子数据库进行随机对照试验,队列研究,自发性小脑出血预后的病例对照研究和横断面研究.所选研究的质量由美国医疗保健研究和质量机构(AHRQ)评估。评估纳入的危险因素对自发性小脑出血预后的影响。将具有匹配的95%置信区间(CIs)的组合比值比(ORs)合并.
    结果:纳入了8项研究,包括539人。总共确定了31个潜在的相关危险因素。最终,评估后,将6个危险因素纳入荟萃分析。中度证据支持的因素包括脑积水(OR=4.3,95%CI:2.33至7.91)和药物性凝血病(OR=2.74,95%CI:1.23至6.09)。有限证据支持的因素包括脑室内出血(OR=1.86,95%CI:1.13至3.07)和血肿大小>3cm(OR=3.18,95%CI:1.87至5.39)。Meta分析显示高血压,糖尿病和SCH预后。
    结论:目前的荟萃分析揭示了自发性小脑出血患者预后的明显危险因素。包括脑积水,药物性凝血病,脑室出血和血肿大小>3厘米。
    BACKGROUND: The most deadly type of spontaneous intracerebral hemorrhage is spontaneous cerebellar hemorrhage (SCH). The purpose of this meta-analysis was to investigate risk factors for prognosis in SCH patients to provide a basis for taking preventive and therapeutic measures.
    METHODS: Seven electronic databases were searched from inception to May 2023 for randomized controlled trial, cohort study, case control study and cross-sectional study on prognosis of spontaneous cerebellar hemorrhage. The quality of the selected studies were assessed by the American Agency for Healthcare Research and Quality (AHRQ). To assess the impact of the included risk factors on the prognosis of spontaneous cerebellar hemorrhage, combined odds ratios (ORs) with matching 95% confidence intervals (CIs) were combined.
    RESULTS: Eight studies were included, including 539 participants. And a total of 31 potentially associated risk factors were identified. Ultimately, 6 risk factors were included in the meta-analysis after assessing. The factors supported by moderate evidence include the hydrocephalus (OR = 4.3, 95% CI: 2.33 to 7.91) and drug-induced coagulopathy (OR = 2.74, 95% CI: 1.23 to 6.09). The factors supported by limited evidence include the intraventricular bleeding(OR = 1.86, 95% CI: 1.13 to 3.07) and hematoma size>3 cm(OR = 3.18, 95% CI: 1.87 to 5.39). Meta-analysis revealed no association between hypertension, diabetes mellitus and SCH prognosis.
    CONCLUSIONS: The current meta-analysis revealed obvious risk factors for prognosis in spontaneous cerebellar hemorrhage patients, including hydrocephalus, drug-induced coagulopathy, intraventricular bleeding and hematoma size>3 cm.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    跨步变异性是小脑共济失调的特征,即使在共济失调前或前驱疾病阶段。这项研究探讨了先前描述的小脑疾病和健康老年人队列中手臂摆动和躯干偏转的变异性与步幅和步态速度的关系:我们检查了10例脊髓小脑共济失调14型(SCA)患者,12例特发性震颤(ET),和67名健康老年人(HE)。使用惯性传感器,在不同的主观步行速度下记录步态表现,以描述步态参数和各自的变异系数(CoV).队列和步行速度类别的比较显示,与HE相比,SCA和ET患者的步速较慢。与之平行的是减小的手臂摆动运动范围(RoM),峰值速度,增加了步幅的CoV,而躯干偏斜及其变异性没有发现组间差异。较大的摆臂RoM,峰值速度,在所有队列中,步幅和步幅均由较高的步态速度预测。较低的步态速度预测躯干矢状和水平偏转的CoV值较高,以及ET和SCA患者的手臂摆动和步幅,但不是在他。这些发现强调了手臂运动在共济失调步态中的作用以及步态速度对变异性的影响,这对于在纵向观察中定义疾病表现和疾病相关变化至关重要。
    Excessive stride variability is a characteristic feature of cerebellar ataxias, even in pre-ataxic or prodromal disease stages. This study explores the relation of variability of arm swing and trunk deflection in relationship to stride length and gait speed in previously described cohorts of cerebellar disease and healthy elderly: we examined 10 patients with spinocerebellar ataxia type 14 (SCA), 12 patients with essential tremor (ET), and 67 healthy elderly (HE). Using inertial sensors, recordings of gait performance were conducted at different subjective walking speeds to delineate gait parameters and respective coefficients of variability (CoV). Comparisons across cohorts and walking speed categories revealed slower stride velocities in SCA and ET patients compared to HE, which was paralleled by reduced arm swing range of motion (RoM), peak velocity, and increased CoV of stride length, while no group differences were found for trunk deflections and their variability. Larger arm swing RoM, peak velocity, and stride length were predicted by higher gait velocity in all cohorts. Lower gait velocity predicted higher CoV values of trunk sagittal and horizontal deflections, as well as arm swing and stride length in ET and SCA patients, but not in HE. These findings highlight the role of arm movements in ataxic gait and the impact of gait velocity on variability, which are essential for defining disease manifestation and disease-related changes in longitudinal observations.
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  • 文章类型: Systematic Review
    背景:小脑mutism综合征(CMS)是后颅窝手术的严重并发症,主要影响儿科年龄组。病理生理学仍未完全理解。这会对患者的康复产生不利影响。CMS没有明确的标准化管理。然而,药物治疗已被用于报道的疗效可变的病例。我们的目的是通过这篇综述来总结用于治疗CMS的药物的可用证据。
    方法:在2022年12月之前,使用PubMedCentral进行了全面的系统评价,Embase,和WebofScience,数据库,以确定接受后颅窝手术并接受药物治疗的CMS患者的病例报告和病例系列。除了后颅窝病变以外的其他病理患者被排除在研究之外。
    结果:在592项初步研究中,8项研究符合我们的入选资格标准,通过人工检索增加了3项研究;报告了13例患者.年龄中位数为13岁(标准差SD=10.60)。最常用的药物是溴隐亭。其他药物是氟西汀,咪达唑仑,唑吡坦,和阿立哌唑.大多数患者在开始药物治疗后48小时内康复。中位随访期为4个月(SD=13.8)。所有患者在随访期结束时显示完全康复。
    结论:后颅窝手术后报告小脑mutism综合征,尽管试图确定风险因素,病理生理学,和CMS的管理,它仍然是一种具有挑战性的疾病,发病率很高。已经提出了不同的药理学治疗方法,并取得了有希望的结果。需要进一步的研究和正式的临床试验来评估可用的选择及其有效性。
    Cerebellar mutism syndrome (CMS) is a serious complication of posterior fossa surgeries affecting mainly pediatric age group. The pathophysiology is still not fully understood. It adversely affects the recovery of patients. There is no definitive and standardized management for CMS. However pharmacological therapy has been used in reported cases with variable effectiveness. We aim through this review to summarize the available evidence on pharmacological agents used to treat CMS.
    A thorough systematic review until December 2022, was conducted using PubMed Central, Embase, and Web of Science, databases to identify case reports and case series of CMS patients who underwent posterior fossa surgery and received pharmacological treatment. Patients with pathologies other than posterior fossa lesions were excluded from the study.
    Of 592 initial studies, 8 studies met our eligibility criteria for inclusion, with 3 more studies were added through manual search; reporting on 13 patients. The median age of 13 years (Standard deviation SD=10.60). The most frequent agent used was Bromocriptine. Other agents were fluoxetine, midazolam, zolpidem, and arpiprazole. Most patients recovered within 48 hours of initiating medical therapy. The median follow-up period was 4 months (SD=13.8). All patients showed complete recovery at the end of follow-up period.
    Cerebellar mutism syndrome is reported after posterior fossa surgeries, despite attempts to identify risk factors, pathophysiology, and management of CMS, it remains a challenging condition with significant morbidity. Different Pharmacological treatments have been proposed with promising results. Further studies and formalized clinical trials are needed to evaluate available options and their effectiveness.
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  • 文章类型: Case Reports
    桥本脑病在抗甲状腺抗体升高的背景下表现出无数的神经精神特征,并且可能与桥本甲状腺炎有关,也可能与桥本甲状腺炎无关。这是一种排除性诊断。这里,我们介绍了一个30多岁甲状腺功能减退的女性,有5年的慢性进行性步态共济失调以及手和头部震颤的病史,注意力不集中和脑电图(EEG)提示发作间癫痫样放电,无任何临床癫痫发作。该患者的抗甲状腺过氧化物酶抗体滴度非常高,>2000IU/mL,并且正在接受非常高剂量的左甲状腺素替代疗法。她对静脉脉冲皮质类固醇有反应。在临床和随后的脑电图上都注意到了改善。没有坦率脑病的纯小脑综合征也可能是桥本脑病的罕见表现。这突出了抗甲状腺抗体测试的重要性,即使在纯小脑综合征的情况下,排除桥本脑病相关的共济失调。
    Hashimoto encephalopathy presents with a myriad of neuropsychiatric features in the background of elevated antithyroid antibodies and it may or may not be associated with Hashimoto thyroiditis. It is a diagnosis of exclusion. Here, we present the case of a hypothyroid woman in her 30s, with a 5-year history of chronic progressive gait ataxia along with hand and head tremor, inattention and electroencephalogram (EEG) suggestive of interictal epileptiform discharges without any clinical seizures. The patient had very high titres of anti-thyroid peroxidase antibodies >2000 IU/mL and was on very high-dose levothyroxine replacement therapy. She responded to intravenous pulse corticosteroids. Improvement was noted both clinically and on subsequent EEGs. Pure cerebellar syndrome without frank encephalopathy can also be a rare presentation of Hashimoto encephalopathy. This highlights the importance of antithyroid antibodies testing even in cases of pure cerebellar syndrome to rule out Hashimoto encephalopathy associated ataxia.
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  • 文章类型: Journal Article
    Bevezetés: A cerebelláris kognitív-affektív szindróma olyan tünetegyüttest jelent, amely a motoros és végrehajtó funkciók zavarán túl a memória, a váltás-gátlás, a konceptualizálás és az érzelem és viselkedés szabályozásában is megnyilvánulhat. A szindróma felmérésére dedikált magyar nyelvű mérőeszköz eddig nem állt a hazai szakemberek rendelkezésére. Célkitűzés: A kutatás célja volt a Cerebelláris Kognitív-Affektív Szindróma Skála (CCAS-H) magyar mintán történő validációja, diagnosztikus érvényességének felmérése, valamint a teszt közzététele a szakemberek számára. Módszer: Multicentrikus kutatási elrendezésben, hat kórházi osztállyal való együttműködés keretében cerebelláris érintettségű páciensekkel és kontrollszemélyekkel történtek tesztfelvételek 2021. 07. 12. és 2023. 12. 31. között. A statisztikai elemzések során normalitástesztelést, leíró statisztikát, átlagok tesztelését, korrelációszámításokat, valamint ROC-elemzést végeztünk, Cronbach-alfa-értékeket, Cohen-féle kappát határoztunk meg. A normalitás sérülése esetén robusztus próbákat választottunk. Eredmények: 54 cerebelláris és 40 kontrollszeméllyel történt tesztfelvétel, amelyekből különböző alcsoportokat képeztünk. Mintánkban az életkor (r = –0,581***, df = 87, p<0,001) és az iskolázottság (r = 0,360***, df = 87, p<0,001) szignifikáns együttjárást mutatott az összpontszámokkal. A CCAS-H megfelelő belső konzisztenciájú (α = 0,771), teszt-reteszt vizsgálat alapján stabil (r = 0,793***, df =13, p<0,001), és megítélők közti 88,2%-os egyetértést mutatott (𝜅 = 0,779, z = 4,79, p<0,001). A fals pozitív esetek csökkentése érdekében a szindrómát előre jelző vágópontokat megemeltük, így 5 hibapontnál felmerül (szenzitivitás: 100%, specificitás: 43,48%), 6 hibapontnál valószínű (szenzitivitás: 90,91%, specificitás: 62,32%), 7 hibapontnál határozott (szenzitivitás: 81,82%, specificitás: 73,91%) a szindróma előfordulásának valószínűsége (AUC: 0,836). Megbeszélés: Az elemzések a nemzetközi ajánlásoknak megfelelően készültek. Az eredeti és más validált változatokhoz képest a magyar verzió nagyobb belső konzisztenciát mutatott. A skála stabil és megbízhatóan alkalmazható, emellett ismertetjük a teszt adta újabb kutatási kérdéseket. Következtetés: Az újonnan validált skála alkalmas mérőeszköz a szindróma mérésére. Tanulmányunkkal elérhetővé tettük a CCAS-H-t a magyar szakemberek számára. Orv Hetil. 2024; 165(20): 785–798.
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  • 文章类型: Case Reports
    虾征的特征是小脑深部白质有明确的病变,在T1加权成像上具有T2上的高信号和低信号,邻接和勾勒齿状核,单方面或双边。在正确的临床情况下,该体征对小脑进行性多灶性白质脑病(PML)具有很高的敏感性和特异性。在这篇文章中,我们介绍了一名患有人类免疫缺陷病毒的女性的小脑PML病例,没有使用抗逆转录病毒疗法的人,并在脑部MRI上显示了虾的标志。
    The shrimp sign is characterized by a well-defined lesion in the deep cerebellar white matter, with hyperintense signal on T2- and hypointense signal on T1-weighted imaging, abutting and outlining the dentate nucleus, unilaterally or bilaterally. This sign has high sensitivity and specificity for cerebellar progressive multifocal leukoencephalopathy (PML) within the correct clinical scenario. In this article, we present a case of cerebellar PML in a woman living with human immunodeficiency virus, who was not using antiretroviral therapy, and presented the shrimp sign on brain MRI.
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  • 文章类型: Journal Article
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