我国成年发病的Dandy-Walker综合征的临床特点

目的探讨我国成年发病的Dandy-Walker综合征的临床特点。方法回顾性分析14例成年人起病的Dandy-Walker综合征患者的临床资料。结果本组中,急性起病6例,亚急性2例,慢性起病6例。头痛、行走不稳或共济失调各6例(42.9%),头晕5例(35.7%),眼震4例(28.6%),双下肢乏力、麻木3例(21.4%),肌张力减退2例(14.3%),腱反射减退2例(14.3%),合并精神发育迟滞、三叉神经痛、精神症状、颅内肿瘤、神经皮肤黑变病各1例(7.1%)。头颅MRI检查显示,患者均有后颅窝巨大囊肿或后颅窝囊肿与第四脑室相通、小脑蚓部缺如或部分缺如,7例患者侧脑室及第三脑室扩大、梗阻性脑积水,5例患者小脑半球发育不良。7例患者行手术治疗,术后1~2周患者症状均改善。结论成人发病的Dandy-Walker综合征可表现为头痛、头晕、行走不稳及双下肢乏力,头颅MRI主要表现为后颅窝扩大,后颅窝囊肿与第四脑室扩大及小脑蚓部缺如。     

视频脑电图对全身强直-阵挛发作持续时间的分析

目的 通过视频脑电图研究全身强直-阵挛发作持续时间,探讨各种不同类型发作及睡眠与觉醒对全身强直-阵挛发作持续时间的影响.方法 回顾2009年153例癫痫外科术前进行视频脑电图患者,要求至少有一次全身强直-阵挛发作,并将发作分为7期,分析各期持续时间,睡眠及觉醒对持续时间的影响,研究各种类型发作继发全身强直-阵挛发作在持续时间上的差异.结果 153例患者共275次全身强直-阵挛发作,平均持续时间(72.0 ±34.5)s,12％发作由完整的五个分期组成.睡眠期较清醒期全身强直-阵挛发作持续时间短(P＜0.05),单纯部分性发作继发全身强直-阵挛发作、复杂部分性发作继发全身强直-阵挛发作及由全身强直-阵挛发作起始的发作,三者的全身强直-阵挛发作持续时间差异无统计学意义.结论 94.2％全身强直-阵挛发作持续时间少于2 min,睡眠期较清醒期全身强直-阵挛发作持续时间短.     

全面性强直-阵挛发作间期脑血流量改变的磁共振动脉自旋标记研究

目的应用MRI脉冲式动脉自旋标记(PASL)技术,研究全面性强直-阵挛发作患者发作间期局部脑血流最改变,阐述全面性强直-阵挛发作可能的神经病理生理学机制。方法选择29例诊断明确、病程>1年且发作>3次的全面性强直-阵挛发作患者作为研究对象,以年龄、性别、利手性相匹配并例数相当的正常健康志愿者作为对照。通过Siemens 3.OT MRI扫描仪采集全脑PASL数据,通过两独立样本t检验比较全面性强直-阵挛发作患者发作间期相对正常人脑血流量改变的脑区。结果与对照组相比,全面性强直-阵挛发作患者发作间期脑血流量的改变以降低为主(P<0.05),主要包括双侧丘脑、脑于和小脑,以及右侧楔前叶部分皮质区域;而且发作间期双侧丘脑局部脑血流量改变与发作时间(r=-0.090,p=0.643)及发作频率(r=-0.115,p=0.551)无明显相关关系。结论全面性强直-阵挛发作患者在发作间期以丘脑、脑干和小脑等脑区血流灌注降低为主,支持特发性全面性癫癎的"中脑癫癎理论"。这些脑区可能与特发性全面性癫癎的病理生理学机制密切相关。     

31例青少年肌阵挛性癫痫临床表现脑电图特点及误诊分析

目的 回顾性分析31例青少年肌阵挛性癫痫(JME)患者的临床、脑电图特点及误诊原因.方法 收集2008年9月～2011年1月在我院癫痫诊治中心诊治的31例JME患者,对其临床表现、脑电图改变及药物治疗疗效进行总结性分析.结果 31例患者表现单纯肌阵挛发作者12例;肌阵挛伴全身强直-阵挛发作者15例;肌阵挛伴失神发作者4例.长程录像脑电图检查,24例患者于监测过程中出现肌阵挛发作,脑电见与发作同步的对称性、泛化性多棘慢波、棘慢波爆发.既往就诊中诊断为全身强直-阵挛发作者17例,抽动症者8例,部分性发作者4例,正常者2例.依据发作类型给予治疗后肌阵挛症状1w内消失者13人;2w内消失者11人;1个月内消失者6人,每月内均有3～4次肌阵挛发作者1人.继发的全身强直-阵挛性发作,半年内消失者20例;1年内消失者11例.结论 青少年肌阵挛性癫痫,以短暂的、无节律性、不规则的肌阵挛抽动为特点,由于症状不典型容易造成误诊,长程录像脑电图检查,附加闪光刺激、睡眠剥夺等诱发试验,提高阳性诊断率,对症治疗效果好.     

8例家族性皮质肌阵挛震颤性癫痫临床特点分析

目的分析家族性皮质肌阵挛震颤性癫痫(FCMTE)的临床特点。方法对8例FCMTE患者的临床资料进行回顾性分析,总结家系的临床特点、遗传特征。结果 8例FCMTE患者,连续3代发病,男女均受累,均30岁以后起病,先后出现震颤、全面强直-阵挛发作。其中,5例伴头痛,6例有肢体震颤,4例有情绪焦虑,1例有共济失调症状。8例均于30岁以后癫痫发作,呈强直-阵挛发作。4例刺激左右正中神经记录的躯体感觉诱发电位(SEPs)可见巨大电位,未见C-反射。结论 FCMTE呈常染色体显性遗传,均发生于成人,表现为四肢末端细微震颤、强直-阵挛性癫痫发作,光刺激、情绪激动或惊吓时可诱发。服抗癫痫药有效,服用β受体阻滞剂或饮酒无效,为非进展性病程。神经电生理检查提示肌阵挛或震颤来源于大脑皮质。     

Dandy-Walker综合征患儿腹腔分流术前后临床与影像学特征分析

目的 总结Dandy-Walker综合征患儿腹腔分流术前后临床与影像学特征。方法与结果 选择2016年1月至2023年1月福建三博福能脑科医院收治的共6例Dandy-Walker综合征患儿(包括Dandy-Walker畸形1例、Dandy-Walker变型5例),主要表现为小脑蚓部缺损,小脑幕、窦汇区上移,第四脑室显著扩张,后颅窝囊性病变,幕上脑室扩张、积水(1例);或小脑蚓部发育不良,小脑半球受压,第四脑室扩张,后颅窝囊性病变,幕上脑室扩张、积水(5例)。分别行右侧侧脑室-腹腔分流术(2例)或后颅窝囊肿-腹腔分流术(4例),手术顺利,无手术相关并发症。随访2.31～7.00年,术后脑积水和后颅窝囊性畸形均逐渐减轻,3例预后良好,大脑半球和小脑发育良好,言语功能、运动功能、智力正常;3例预后一般,遗留轻度小脑平衡障碍(1例)或孤独症、幽闭恐惧症(1例),合并神经皮肤黑变病患儿遗留言语功能、运动功能、智力障碍(1例)。结论 表现为脑积水的Dandy-Walker综合征患儿经单分流术纠正脑积水后,大脑结构可获得良好发育,其中Dandy-Walker变型小脑蚓部良好发育,而Dandy-Wal...     

下丘脑错构瘤所致痴笑样癫痫发作3例

目的探讨下丘脑错构瘤所致痴笑样癫痫发作患者的临床表现、影像学特点及治疗方法。方法 3例下丘脑错构瘤所致痴笑样癫痫发作患者中,2例儿童患者有性早熟表现,成人患者无性早熟表现,但伴有全身强直阵挛发作。结果2例患者行翼点入路手术大部分切除病变,1例行γ刀治疗,术后无并发症发生。术后随访1年,痴笑样癫痫均停止,儿童患者性早熟症状明显减轻,成人患者全身强直阵挛发作次数减少。结论下丘脑错构瘤所致痴笑样癫痫是一种药物难治性癫痫,多伴有性早熟;有典型的CT、MRI特征及临床表现;对肿瘤的手术或γ刀治疗可获得较好的效果。     

以癫发作为首发症状的老年患者28例病因分析

随着各项检查手段的日益完善 ,以癫发作为首发症状的各种疾病得以早期诊断 ,自 1999-0 6～ 2 0 0 3 -0 6我院收治的 2 8例以癫发作为首发症状的老年患者 ,报道如下。1　临床资料1 1　一般资料　本组 2 8例中 ,男 2 3例 ,女 5例 ,年龄 60～ 84岁 ,既往有高血压病史 4例 ,脑梗死病史 5例 ,脑出血病史 2例。1 2　临床表现　全身强直 -阵挛发作 13例 ,单纯部分发 11例 ,单纯部分发作发展至全身强直 -阵挛发作 4例。1 3　影像学检查　所有病例均行头颅CT和 /或MRI检查 ,正常5例 ,异常 2 3例 ,其中脑梗死 6例 ,脑出血 2例 ,脑肿瘤 3例 ,脑软…     

表现为偏侧肢体强直-阵挛样发作的椎-基底动脉延长扩张症1例

椎-基底动脉延长扩张症(VBD)是一种少见的血管异常性疾病,发病率低且临床表现复杂,容易漏诊、误诊。现报告表现为偏侧肢体强直-阵挛样发作的VBD病例1例如下。1病例患者,男,50岁。因“反复发作性左下肢及左手强直、阵挛、强直-阵挛样发作3年”于2017年11月13日入住我院。患者3年前无明显诱因出现左下肢强直,持续3~5 s,其后反复出现左下肢强直、阵挛或强直-阵挛样发作,严重时波及左侧偏身,发作时意识清楚。     

4例双皮质综合征伴癫痫患者电-临床特征分析

目的探讨伴有双皮质综合征(double cortex syndrome,DCS)的癫痫患者的电生理及临床特征。方法回顾性分析4例伴有DCS的癫痫患者的病史、影像、电生理、发作类型及临床治疗。结果 4例患者均为女性,起病年龄1～13岁,均有不同程度智力发育障碍。2例患者脑电图背景节律明显变慢,3例患者发作间期以双侧颞顶枕区癫痫样放电为主,同步或交替出现,可有侧别优势;捕获到发作的3例患者发作期均为广泛放电起源。临床发作均表现为多种发作形式,其中3例具有继发全面强直或强直-阵挛,该发作形式对药物的敏感性较好。结论伴有DCS的癫痫患者发病率有明显女性性别优势,起病年龄越早,智力发育受影响越大,癫痫样放电以双侧后头部为主,发作起源广泛,发作形式多样,抗癫痫药物对全面强直或强直-阵挛发作控制较好。     

Hot water epilepsy.

The clinical and EEG features of 10 patients with hot water epilepsy were presented. Eight of the 10 cases were male. The mean age of onset was 4.7 years. In four patients partial and in six cases generalized seizures were seen. Three patients also had non-hot water precipitated seizures. Interictal EEGs showed generalized abnormalities in eight and focal abnormalities in two cases. CT was performed and found normal in two patients. Anticonvulsant therapy was instituted for all patients. In six cases with adequate follow-up, complete remission was obtained in four and the frequency of the seizures was decreased in two, with anticonvulsant therapy.     

毒鼠强中毒致癫癎发作的临床观察

目的:探讨毒鼠强中毒的临床表现,提高诊断率。方法:对12例毒鼠强中毒病例的临床资料进行回顾性分析。结果:12例中有6例强直-阵挛发作,4例癫癎持续状态,1例单纯部分性运动性发作,1例无癫癎发作。结论:毒鼠强中毒可表现为各种类型癫癎发作,对于不明原因的癫癎发作应注意排除毒鼠强中毒可能,减少误诊率,增加抢救成功率。     

Acute encephalitis with refractory, repetitive partial seizures

BACKGROUND: Acute encephalitis with refractory, repetitive partial seizures (AERRPS) is a new epileptic syndrome described by Sakuma in Japan in 2001. The clinical manifestations, neuroimaging findings and outcome of AERRPS in Taiwan have not been reported. METHODS: From 2000 to 2006, we collected cases that fulfilled the diagnostic criteria of AERRPS and analyzed the clinical course, virology, medication, electroencephalographic findings, neuroimaging characters and prognosis retrospectively. RESULTS: Fourteen children aged from 1 year and 2 months to 15 years and 6 months were enrolled. They presented with prodromic symptoms including fever (n=13, 92.9%), upper respiratory tract infection symptoms (n=12, 85.7%) and gastrointestinal tract discomfort (n=6, 42.9%). Seizures occurred 3-14 days after antecedent symptoms with patterns of generalized tonic-clonic seizures, focal seizures or myoclonic seizures. The seizures were refractory to combinations of antiepileptic drugs (AEDs). Prolonged fever (n=14, 100.0%), hypersensitivity to AEDs (n=11, 78.6%) and liver function impairment (n=8, 57.1%) were noted during the period of hospitalization. The follow-up EEG findings were similar to those of initial findings including epileptiform discharges and/or generalized background slow waves. Initial brain MRI scans were normal but later showed focal or multifocal abnormal signal intensity followed by generalized brain atrophy in more than 50% of cases. The general prognosis was poor with variable psychomotor retardation and persistence of refractory epileptic seizures. CONCLUSIONS: The similarities of the clinical features support AERRPS as a new epileptic syndrome. More study is needed to specify the etiology of the syndrome as the first step for more effective treatment.     

一组特殊的良性儿童部分性癫(癎)的临床和脑电图特征

目的 分析一组特殊的良性儿童部分性癫(癎)的临床特征,探讨其病理生理机制.方法 对在我院癫(癎)中心门诊就诊的儿童部分性癫(癎)进行随访观察,纳入符合良性部分性癫(癎)诊断者,排除能够分类的其他类型,分析患者的临床和脑电图特征.结果 入组的44例患者中,38.6%(17/44)的患儿每天均有发作,额叶失神、偏转是最常见的发作症状,觉醒脑电图有局灶、多灶、全面性棘慢波爆发3种表现,且以额部为著;睡眠时双侧同步化.截止随访日,88.6%(39/44)完全无发作,22.7%(10/44)脑电图完全恢复正常.结论 有一组特殊的良性儿童部分性癫(癎),可能是起源于额叶.     

Managing Lafora body disease with vagal nerve stimulation

A 17‐year‐old female, of consanguineous parents, presented with a history of seizures and cognitive decline since the age of 12 years. She had absence, focal dyscognitive, generalized myoclonic, and generalized tonic‐clonic seizures, all of which were drug resistant. The diagnosis of Lafora body disease was made based on a compatible clinical, EEG, seizure semiology picture and a disease‐causing homozygous mutation in the EPM2A gene. A vagus nerve stimulator (VNS) was inserted and well tolerated with a steady decrease and then stabilization in seizure frequency during the six months following insertion (months 1–6). At follow‐up, at 12 months after VNS insertion, there was a persistent improvement. Seizure frequency during months 7–12, compared to pre‐VNS, was documented as follows: the absence seizures observed by the family had decreased from four episodes per month to 0 per month, the focal dyscognitive seizures from 300 episodes per month to 90 per month, the generalized myoclonic seizures from 90 clusters per month to eight per month, and the generalized tonic‐clonic seizures from 30 episodes per month to 1.5 per month on average. To our knowledge, this is the second case reported in the literature showing efficacy of VNS in the management of seizures in Lafora body disease.     

Prolonged confusion following convulsions due to generalized nonconvulsive status epilepticus

Among patients with a prolonged confusional state after convulsive seizure, we diagnosed 8 cases as generalized nonconvulsive status epilepticus. Six had a history of seizures, and 2 had new onset. The convulsive seizures were generalized in 6 and focal in two. The postictal confusion lasted up to 36 hours in the most prolonged case, and a delayed response to anticonvulsant medications occurred in all cases. The clinical symptoms ranged from mild confusion to coma. Psychiatric manifestations or automatisms were rare. The presumed etiology was due to diverse causes, but a withdrawal state was the most common. EEG demonstrated continuous or nearly continuous generalized ictal discharges of variable morphology. These cases call attention to the fact that some prolonged confusional states following convulsive seizures are in fact due to persistent seizure activity that can be diagnosed by EEG.     

全面性癫癎伴热性惊厥附加症的临床和遗传学特点(附9家系报告)

目的探讨全面性癫癎伴热性惊厥附加症(GEFS+)的临床和遗传学特点。方法回顾性分析9个GEFS+家系的临床资料。结果本组9例先证者中男7例,女2例;起病年龄1~3岁;发作类型均为全面性强直-阵挛发作(GTCS)。其中,1例为GTCS,4例为热性惊厥(FS),4例为热性惊厥附加症(FS+)。脑电图检查示6例有典型疒间样波,1例有θ波,2例无异常。9个GEFS+家系184人中共有患者45例,男32例,女13例;男性发病比率(34.4%)明显高于女性发病比率(14.3%)(P<0.05)。其中,2例为GTCS,39例为FS,4例为FS+。家系系谱图分析显示,17例患者(37.8%)父母一方或双方患病,符合常染色体显性遗传;28例患者(62.2%)父母不发病或发病情况不详,但其近亲中至少有2例或以上患者。结论 GEFS+的脑电图不一定有异常波。GEFS+具有遗传异质性,本组中男性显著多于女性,不完全符合常染色体显性遗传。     

Acute presentation of childhood adrenoleukodystrophy

X-linked adrenoleukodystrophy is a neurodegenerative disorder affecting the myelin of the nervous system and the adrenal cortex. The childhood form of the disease is typically heralded by subtle neurocognitive changes which later progress. Acute presentation of childhood ALD has been reported, but the incidence is not known. We reviewed the records of 485 boys with childhood ALD, determined those with acute presentation, and classified them as adrenal crisis, seizures, or encephalopathy. Of the 485 reviewed cases, 45 (9.3%) presented acutely at an average age of 5.5 years. Twenty of 45 (44%) presented with seizures, focal seizures in 6 boys and generalized in the remainder with 4 having status epilepticus. Twenty out of 45 presented with acute adrenal crisis. Five of 45 presented with acute encephalopathy or coma. The diagnosis of ALD was rarely made in the acute period, but was often suggested by neuroimaging. The accurate, rapid diagnosis of ALD has important implications for treatment as well as for other family members and should be considered in appropriate patients.     

Spectrum of epilepsy in terminal 1p36 deletion syndrome

PURPOSE: Previous reports have summarized the seizures types occurring in 1p36 deletion syndrome. To better define the spectrum of epilepsy, we studied 91 patients (median age 7.8 years) with confirmed 1p36 deletion. METHODS: Based on clinical charts, we retrospectively analyzed the evolution of both the EEG findings and seizures. RESULTS: Epilepsy occurred in 53 patients (58.2%), with onset at a median 2.75 months. First seizures were generalized tonic (8 cases), tonic and clonic (6) or myoclonic (12), simple partial (6), or complex partial (14). Thereafter, 20 patients (21.9%) developed infantile spasms with hypsarrhythmia, at a median age of 5 months. High doses of oral steroids were tried in nine cases, with a prompt remission of seizures in six. Among them, five were seizure-free at the time of evaluation. Conversely, two of three nonresponders to steroids developed severe and refractory epilepsy. At the time of evaluation, 32 patients were seizure-free, from a median age of 1.8 years. Nineteen patients (20.9%) had developed refractory epilepsy with polymorphic seizures, including generalized tonic and tonic-clonic seizures (13) combined with myoclonic seizures (11) and atypical absences (3), atonic seizures (2), or complex partial seizures (3). The EEG showed focal, multifocal or generalized spikes, polyspike, and waves, with poverty of the usual background rhythmic activities. CONCLUSIONS: Early epilepsy is a frequent finding in 1p36 deletion syndrome with infantile spasms as of the most common features that can contribute to a poor clinical outcome. Early diagnosis and management of infantile spasm in this condition is mandatory.     

Generalized absence seizures with 10-15 Hz fast discharges.

OBJECTIVE: To report clinical and EEG features in 5 adults with unusual, fast rhythmic discharges accompanying absence seizures. DESIGN AND METHODS: The 5 patients presented with uncontrolled seizures. All had EEG-video monitoring with recorded seizures. Video seizures were reviewed and ictal as well as interictal epileptiform activity was analyzed. The patients were followed up after appropriate therapy for a minimum of 6 months. RESULTS: There were 3 women and two men, with a mean age of 37 years (range: 23-59). Two patients had onset of absence seizures in childhood, one in adolescence and two after age 20. All patients also had generalized tonic-clonic seizures. Ictal EEG recordings showed generalized spike and wave (SW) discharges of variable dominant frequencies (2.5-6 Hz) and intermingled 10-15 Hz generalized rhythmic discharges which also occurred in isolation or as the dominant activity. Interictal recordings showed similar but shorter 2.5-6 Hz generalized SW discharges. The background activity was normal in 3 patients and mildly slow in two who had very frequent absence seizures during the recording period. Four patients became seizure free and one had 75% improvement on appropriate antiabsence therapy. CONCLUSIONS: The fast 10-15 Hz rhythmic discharges that we report appear to occur mostly in adult patients with absence, as well as, generalized tonic-clonic seizures. They can occur in isolation or be embedded in more typical SW discharges accompanying typical absence seizures. Their presence does not imply a poor prognosis for seizure control.