双侧侧脑室旁结节样灰质异位症4例临床及影像学研究

对4例双侧侧脑室旁结节样灰质异位症(BPNH)患者进行回顾性研究,总结其临床及颅脑MRI特点.BPNH患者颅脑MRI共同特征为双侧侧脑室周围见不规则的小结节样灰质信号.4例患者中,2例灰质结节,呈对称、连续分布,合并小脑发育不良,枕大池扩大;l例结节分布不对称,左侧明显,亦合并小脑发育不良,枕大池扩大;l例结节分布不对称,右侧明显,未见小脑发育不良.2例发作间期动态脑电图正常;另外2例分别于右颞区及左额下区、左颞区见癫痫波.该组患者精神智能发育均正常.均未发现神经系统以外的异常.总体预后良好.BPNH治疗结果和预后因素中经典型双侧侧脑室旁结节样灰质异位症以及合并小脑蚓部发育不良是提示预后良好的因素.     

头颅MRI海马像异常与难治性内侧颞叶癫(癎)患者近期记忆损害

目的 探讨难治性内侧颞叶癫(癎)(MTLE)患者影像学异常及发作间期放电(IEDs)优势侧对近期记忆损害的影响.方法 纳入2006年9月至2007年4月我院癫(癎)中心门诊就诊的难治性MTLE患者50例,根据MRI海马像检查将其分为左侧MRI(+)组、右侧MRI(+)组、MRI(-)组及双侧MRI(+)组.综合多次IEDs结果进行评定,若一侧独立IEDs≥75%,则判为IEDs优势侧.采用临床记忆量表(CMS)对患者进行记忆评定.结果 年龄、性别、职业、文化程度、是否来自农村、病程、发作情况、药物治疗各因素在4组间的分布相匹配.各组记忆商(MQ)及分量表的年龄量表分比CMS正常均数差(P＜0.05).右侧MR[(+)组无意义图形再认得分(9.42±7.46)相对于左侧MRI(+)组(16.26±4.43)和MRI(-)组(18.26±5.49)低(F=4.281,P＜0.05).MRI(-)者中左侧IEDs、右侧IEDs、双侧IEDs 3组间MQ及各分量表的年龄量表分值均无统计学意义.结论 右侧MRI(+)MTLE患者在空间图形记忆方面的损害更加显著,无意义图形再认对于非语言记忆的评价有较高的特异性.     

立体脑电图引导射频热凝毁损治疗脑室旁结节状灰质异位相关癫痫

目的探讨立体脑电图(SEEG)引导下的射频热凝毁损技术在治疗脑室旁结节状灰质异位相关癫痫中的作用。方法回顾性分析2015年3月至2017年5月北京丰台医院神经外科收治的5例脑室旁结节状灰质异位相关癫痫患者的临床资料。所有患者均根据症状学、头皮脑电图表现及影像学检查结果设计SEEG电极的植入方案,并行视频脑电监测,根据SEEG发作间期和发作期放电情况明确致痫灶的分布,根据其结果采用SEEG电极行射频热凝毁损术。术后通过门诊或电话进行随访,采用Engel分级进行预后评估。结果5例患者共植入23根电极,植入后未见明显并发症。随访时间为9~27个月,其中4例癫痫发作消失(Engel分级Ⅰ级),1例毁损术后发作频率无明显改善(Engel分级Ⅳ级)。所有患者在射频热凝毁损术中、术后均未出现明显不良反应。结论立体定向脑电图(SEEG)引导下的射频热凝毁损技术对治疗脑室旁结节状灰质异位相关癫痫具有重要的临床应用价值。     

10例多发性硬化伴癫痫发作与MRI相关性分析

目的:探讨多发性硬化(MS)伴癫癎发作患者的临床特点与MRI所示病灶的相关性。方法:回顾性分析121例确诊为MS住院患者中10例(8.29%)伴癫癎发作的临床特点及MRI表现。结果:癫癎在MS其他症状或体征之前出现2例;癫癎发作为MS复发时唯一症状的1例;癫癎发作时已伴MS其他症状或体征者7例。10例患者头颅MRI均示双侧半球的深部白质、侧脑室旁数个斑块病灶,其中5例伴皮质-皮质下斑块病灶,2例伴局灶性皮质萎缩。5例癫发作与皮质-皮质下斑块病灶有相关性。结论:癫癎可以是MS的首发症状或复发时唯一临床表现,MS患者癫癎发作与皮质-皮质下斑块病灶相关。     

癫(癎)患者磁共振弥散张量成像及其与智能损害的关系

目的 采用磁共振弥散张量成像技术研究癫(癎)患者智能损害的相关脑区及病理改变,探讨其可能的发生机制.方法 对44例癫(癎)患者和20名健康人进行韦氏成人量表和磁共振弥散张量成像检查.结果 癫(癎)组患者的全量表智商(FIQ,98.19±17.76)、语言智商(VIQ,100.52±17.63)、操作智商(PIQ,95.10±16.72)均显著低于对照组(VIQ:109.77±13.54、PIQ:108.11±12.17、FIQ:109.81±10.57).癫(癎)智能缺损患者胼胝体膝部平均扩散率(MD值)高于癫(癎)智能正常组,双侧内囊前肢、左侧内囊膝部、左侧外囊、双侧枕叶白质和双侧壳核的各向异性(FA)值低于癫(癎)智能正常组,差异有统计学意义(P＜0.05).相关分析发现,右枕叶FA值与FIQ呈正相关;右侧额叶MD值与VIQ呈负相关;右侧枕叶FA值与VIQ呈正相关;两侧枕叶FA值均与PIQ正相关.结论 本组癫(癎)患者在FIQ、VIQ、PIQ均存在损害.癫(癎)患者伴有智能缺损的胼胝体膝部平均扩散率增加,双侧内囊前肢、左侧内囊膝部、左侧外囊、双侧枕叶白质和双侧壳核各向异性减低;枕叶的各向异性减低与FIQ减低有关,额叶平均扩散率增加与VIQ减低有关,皮质下白质在认知中可能起较重要的作用.     

延髓梗死11例患者MRI与临床特点对照研究

目的 探讨延髓梗死患者MRI病灶部位与临床表现特点的关系.方法 总结11例患者的临床症状和体征,对照MRI结果对梗死病灶进行定位,讨论病灶部位与临床表现的关系.结果 延髓外侧梗死5例,延髓内侧梗死6例(其中双侧梗死2例);延髓外侧梗死常见症状是言语不清、眩晕、饮水呛咳、吞咽困难及面部麻木,延髓内侧梗死常见症状是肢体瘫痪、言语不清;延髓外侧梗死常见体征是构音障碍、感觉障碍、Horner征及面瘫,延髓内侧梗死常见体征是肢体瘫痪、周围性舌瘫.结论 不同病灶部位的延髓梗死患者症状、体征各异,借助MRI可帮助诊断.     

Automated morphometric magnetic resonance imaging analysis for the detection of periventricular nodular heterotopia

Purpose: To describe a novel magnetic resonance imaging (MRI) postprocessing technique for the detection of periventricular nodular heterotopia (PNH) and to evaluate its diagnostic value. The method is a further development of voxel‐based morphometric analysis with focus on a region of interest around the lateral ventricles to increase the sensitivity and specificity for automated detection of abnormally located gray matter in this area. Methods: T₁‐weighted MRI volume data sets were normalized and segmented in statistical parametric mapping (SPM 5 software), and the distribution of gray matter was compared to a normal database. As a new approach, individual masks derived from segmentation of the lateral ventricles were used to restrict the search for ectopic gray matter to the periventricular area. PNH were automatically detected by localizing the maximum deviation from the normal database in this area, provided that the z‐score exceeded a certain threshold. The optimal z‐score threshold for maximum sensitivity and specificity was determined by a receiver operating characteristic (ROC) curve analysis. The method was applied in 40 patients with PNH and 400 controls. Key Findings: PNH were detected in 37 of 40 patients, and false positives were found in 34 of 400 controls, amounting to 92.5% sensitivity and 91.5% specificity. In 17 of the patients in whom PNH could be identified, these lesions had been overlooked in the past, and in 8 patients even in the high‐resolution MRI subsequently used for postprocessing. Significance: The results suggest that automated morphometric MRI analysis with focus on ectopic gray matter in the periventricular areas facilitates the evaluation of MRI data and increases the sensitivity for the detection of PNH.     

Functional MRI interactions between dysplastic nodules and overlying cortex in periventricular nodular heterotopia

Periventricular nodular heterotopia (PVNH) is a malformation of cortical development associated with epilepsy. It is unclear whether the epileptogenic focus is the nodule, overlying cortex, or both. We performed electroencephalography (EEG)-functional magnetic resonance imaging (fMRI) in a patient with bilateral PVNH, capturing 45 "left temporal" epileptiform discharges. The relative time at which fMRI-involved regions became active was assessed. Additionally, nodule-cortex interactions were explored using fMRI functional connectivity. There was EEG-fMRI activity in specific periventricular nodules and overlying cortex in the left temporoparietal region. In both nodules and cortex, the peak BOLD response to epileptiform events occurred earlier than expected from standard fMRI hemodynamic modeling. Functional connectivity showed nodule-cortex interactions to be strong in this region, even when the influence of fMRI activity fluctuations due to spiking was removed. Nonepileptogenic, contralateral nodules did not show connectivity with overlying cortex. EEG-fMRI and functional connectivity can help identify which of the multiple abnormal regions are epileptogenic in PVNH.     

低级别脑神经元-胶质混合性肿瘤MRI及临床特点

目的 分析低级别脑神经元-胶质混合性肿瘤MRI及临床特点.方法 回顾病理证实的18例该类患者临床及影像资料.结果 患者术前均有癫痫史,14例为药物难治性癫痫.MRI上病变边界清晰,均位于或累及皮层;多呈实性,少数为囊实性或囊性,实性成分更靠近皮层;病变呈长T1长T2信号,部分实性成分为等信号;信号均匀少有强化,囊实性者可小壁结节样强化,壁可部分强化;肿瘤无明显占位效应,瘤周水肿少见或轻微.术后平均随访25.6个月无复发.结论 低级别脑神经元-胶质混合性肿瘤位于或累及皮层,多以癫痫起病,手术全切可较好控制症状.     

Bilateral periventricular nodular heterotopia associated with coeliac disease and palatoschisis

Periventricular nodular heterotopia (PNH) is considered a distinct entity in relation to the other forms of neuronal migration disorders (NMD), because PNH patients usually have normal neurological and mental examination results. We report the case of a 48-year-old woman with bilateral periventricular nodular heterotopia associated with epilepsy, coeliac disease, palatoschisis and other dysmorphic features. Her intelligence quotient (I.Q.) and the results of a neurological examination were normal, but she suffered from a drug-resistant epileptic syndrome characterised by predominantly generalised and sporadic partial seizures. It has recently been suggested that an X-linked dominant inheritance may play a role in bilateral periventricular nodular heterotopia, and it is thought that a genetic defect is probably responsible for coeliac disease. In our patient, a genetic disorder may have produced both diseases and the dysmorphic syndrome, although the coexistence of PNH, epileptic seizures, coeliac disease and palatoschisis could be coincidental. Further observations are needed to ascertain whether the simultaneous presence of these disorders is simply an unusual association of unrelated pathologies or a new and distinct pathological entity.     

Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy

PurposePeriventricular nodular heterotopia (PVNH) is a malformation of cortical development due to impaired neuronal migration resulting in the formation of nodular masses of neurons and glial cells in close proximity to the ventricular walls. We report the clinical characteristics of the largest case series of FLNA-negative patients with seizures and bilateral periventricular heterotopia.MethodsParticipants were recruited through the Epilepsy Phenome/Genome Project (EPGP), a multicenter collaborative effort to collect detailed phenotypic data and DNA on a large number of individuals with epilepsy, including a cohort with symptomatic epilepsy related to PVNH. Included subjects had epilepsy, and MRI confirmed bilateral PVNH. Magnetic resonance imaging studies were visually and quantitatively reviewed to investigate the topographic extent of PVNH, symmetry, and laterality.Key findingsWe analyzed data on 71 patients with bilateral PVNH. The incidence of febrile seizures was 16.6%. There was at least one other family member with epilepsy in 36.9% of this population. Developmental delay was present in 21.8%. Focal onset seizures were the most common type of seizure presentation (79.3%). High heterotopia burden was strongly associated with female gender and trigonal nodular localization. There was no evidence for differences in brain volume between PVNH subjects and controls. No relationship was observed between heterotopic volume and gender, developmental delay, location of PVNH, ventricular or cerebellar abnormalities, laterality of seizure onset, age at seizure onset, and duration of epilepsy.SignificanceA direct correlation was observed between high heterotopia burden, female gender, and trigonal location in this large cohort of FLNA-negative bilateral PVNH patients with epilepsy. Quantitative MRI measurements indicated that this correlation is based on the diffuse nature of the heterotopic nodules rather than on the total volume of abnormal heterotopic tissue.     

Outcome of bilateral periventricular nodular heterotopia in monozygotic twins with megalencephaly

Bilateral periventricular nodular heterotopia (BPNH) is a neuronal migration disorder, characterized by grey-matter cellular rests in the periventricular regions. Patients frequently present with seizures during childhood or later in life. Monozygotic twin sisters were found to have enlarged head circumferences (>95th centile) during a routine medical visit at 6 months of age. A brain CT scan revealed grey-matter cellular rests in the subependymal regions extending to the subcortical white matter. In some areas these cell aggregates had nodular margins, consistent with the diagnosis of BPNH. At 6 years of age they are cognitively and neurologically normal. They have not had any seizures and their heads continue to grow along the 95th centile.     

重新定义TIA的临床和磁共振弥散加权成像的研究

目的通过研究短暂性脑缺血发作（transient ischemicattack，TIA）的临床特征及其与磁共振弥散加权成像（Diffusion-WeightedMRI，DWI）异常改变的关系，进一步探讨TIA新定义在临床中的应用价值。方法以2006年4月-2007年9月在本院住院的TIA患者为研究对象，入选患者完成MRI检查，前瞻性收集其临床资料和检查结果，并分析临床特征与DWI异常的关系。结果共76例TIA患者入选，其中33例（43％）患者DWI异常（阳性）；22例症状持续≥1h的患者中有19例DWI阳性（86％）；症状持续≥1h、有失语、运动障碍的患者DWI阳性率高（P〈0．05）；33例DWI阳性的患者中22例常规MRI也发现相关病灶，但8例是经回顾分析才发现。结论将近一半的TIA患者DWI有急性缺血性病灶；症状持续≥1h、失语和运动障碍与DWI异常有关；新定义有助于TIA的早期评估和治疗，但其部分受限于对影像学检查的依赖。     

Alpha-[11C]methyl-L-tryptophan uptake in patients with periventricular nodular heterotopia and epilepsy

BACKGROUND: Alpha-[11C]methyl-L-tryptophan (alpha-MTrp) positron emission tomography (PET) is a promising tool in the localization of the epileptogenic area in selected group of focal epilepsy patients. Electrophysiological evidence suggests the involvement of the neocortex in periventricular nodular heterotopia (PVNH). PURPOSE: To determine whether alpha-MTrp PET can detect neocortical changes in patients with PVNH. METHODS: Four patients (2 male, mean age 28, range 23-35 years) with PVNH and intractable seizures were studied. The functional image in each patient was compared with those from 21 healthy controls (mean age 34.6 +/- 14.2 years) by using statistical parametric mapping (SPM). The location of increased alpha-MTrp uptake was compared with the location of the EEG focus. A significant cluster was defined as a cluster with a height p = 0.005 and an extent threshold 100. RESULTS: Alpha-MTrp PET revealed increased cortical uptake in two of four patients. The area of increased alpha-MTrp uptake in one patient was widespread. In the other patient, the area of increased uptake did not include the region where most seizures were generated on EEG. alpha-MTrp PET did not show increased uptake in the heterotopic nodules in any of the patients. CONCLUSIONS: Alpha-MTrp PET suggests abnormal metabolism of tryptophan in the neocortex. The increased uptake may be diffuse and may not co-localize with the EEG focus. This preliminary study suggests that alpha-MTrp PET may be useful, in conjunction with other evaluations, in localizing epileptic focus in patients with PVNH and refractory seizures.