West综合征的由来

West综合征又称婴儿痉挛症（IS）,由West医生于1841年最早提出。1841年,West医生给Lancet主编发出一封求救信,为他的儿子求医：……孩子已经快1岁了,从他4个月时开始,我发现他时常有点头动作,曾认为是恶作剧,但却越来越频繁,发展到头部触及膝盖但很快恢复,甚至每隔数秒出现一次,可重复10~20次,多次点头动作时间不超过2~3分钟,发作来临前,孩子本来活蹦乱跳,却突然发生头前屈、躯干前俯、膝上抬,常伴惊叫而止……。这个孩子长得很漂亮,但没有同龄儿童的灵活生气,发病后给人的感觉是沉默可怜,虽然听力、视力都很好,但全身发软,颈项很少挺直。     

Dyke-Davidoff-Masson综合征一例报告及文献复习

Dyke-Davidoff-Masson综合征(DDMS)的主要表现是大脑半球萎缩、对侧偏瘫及抽搐发作,可伴有颅骨改变,目前国内外报道较少.现将一例以癫痫为表现、临床症状及影像学检查符合DDMS的病例报道如下. 患者男,21岁,以"间断抽搐发作10年"为主诉人院.患者1l岁时感冒后自觉头痛低热,夜间睡眠中突然出现双眼上翻、口吐白沫、双上肢屈曲、双下肢僵直抽搐,伴意识丧失及尿失禁,2～3 min后抽搐停止,约2h后意识转清.此后患者间断出现肢体强直性发作伴双服凝视,无抽搐及意识丧失,持续数分钟好转,每年发作2～3次.人院前患者再次出现该症状,为进一步诊治于2010年12月20 H人院.患者既往体健,父母非近亲结婚,母亲否认孕期特殊药物服用史,自然顺产,否认宫内缺氧、热性惊厥、脑炎等病史.患者4～5岁时曾从10余米高的山坡摔下,具体情况回忆不清.入院查体无神经系统阳性体征.MMSE评分29分,MOCA评分27分,头颅MRI显示左侧脑萎缩(图1),动态脑电图示广泛中度异常,腰穿检查及常规生化检查无异常,.入院后给予德巴金口服抗癫痫治疗.随访1年患者抽搐发作明显减少,无对侧肢体偏瘫等新症状出现.     

West综合征32例临床分析

目的 探讨West综合征患儿的临床表现、脑电图特征、诊断以及治疗和预后,提高对该病的认识.方法 回顾性研究32例诊断为West综合征患儿的临床资料.结果 32例West综合征患儿中,男、女之比为23:9;年龄5个月至3岁;临床表现为典型的“三联征”患儿28例(87.5％);所有患儿脑电图均为异常(典型高峰失律24例,变异型高峰失律8例).32例患儿中,有4例肌注ACTH及口服抗癫痫药,痉挛完全控制2例,发作次数明显减少1例,无效1例;余28例患儿仅口服抗癫痫药,17例痉挛发作完全控制,6例发作次数明显减少,5例无效.随访16例患儿,2个月内有11例患儿痉挛发作完全控制,3例有效,2例无效.结论 West综合征是婴儿时期特有的一种癫痫类型,且在智力发育时期发病,常伴有脑损伤后遗症.除典型的发作形式和精神运动障碍外,还有特异的脑电图改变.     

改进的大脑半球切除术治疗伴顽固性癫痫的婴儿脑性偏瘫(附14例报告)

作者采用改良手术方法:全切半球皮质后用肌瓣、明胶海绵堵住Monro孔并将之缝在脑镰上固定,并用基底节覆盖住,游离颅底硬膜将硬膜缝于基底节周围和大脑镰、小脑幕及颅底,从而缩小硬膜下腔。本组14例,随访1～2.5年,癫痫均获控制无手术并发症。     

一侧大脑半球切除术治疗顽固性癫痫伴偏瘫1例报告及文献复习

大脑半球切除或切开术是治疗顽固性癫痫的一种有效方法。在所有接受癫痫外科治疗的患者中,其疗效最好。这不仅体现在对癫痫发作的控制,更重要的还体现在手术前后癫痫患者的神经心理改变。作者对1例顽固性癫痫伴偏瘫的病例进行术前、术后临床及影像学观察,并长期随访,结合文献讨     

功能性大脑半球切除术治疗婴幼儿性偏瘫伴顽固性癫痫2例并文献复习

目的：探讨功能性大脑半球切除术治疗婴儿性偏瘫伴顽固性癫痫的临床疗效。方法对2例婴儿性偏瘫伴顽固性癫痫的患者行功能性大脑半球切除术,即主要以切除患者中央区和颞叶为主,并行额叶及顶枕叶的白质离断,术后随访观察其临床治疗效果。结果2例患者的癫痫发作均完全控制,较术前无新的神经功能缺失。结论严格把握功能性大脑半球切除术的手术指征,对婴幼儿性偏瘫伴难治性癫痫患者的癫痫发作可起到良好的疗效。     

多脑叶皮层切除治疗Sturge-Weber综合征继发癫痫一例及文献复习

目的 探讨Sturge-Weber综合征继发癫痫和发育迟滞的手术治疗的方法和疗效.方法 回顾性分析2007年11月手术治疗的Sturge-Webet综合征继发癫痫和智力、体格等多方面发育迟滞的1例患儿的临床资料.进行术前评估后,在全麻下行"右侧半球开颅,右侧额、顶叶和部分颞、枕叶脑组织皮层切除术".结果 术后当天患儿左侧肢体肌力为Ⅰ级,但3 d后左侧肢体肌力开始逐渐恢复,至术后21 d,左侧肢体肌力恢复至术前水平.随访18个月,患儿癫痫发作完全消失,并于术后12个月时自行停用抗癫痫药物.左侧肢体肌力达到Ⅴ-级,功能好于术前,左手手指活动好转,能握住钢笔等物体.语言功能显著好转.攻击行为消失,性格较温顺,认知和行为能力均有明显好转.发育状况评估DQ值从术前的48改善为75.结论 Sturge-Weber综合征继发癫痫和发育迟滞可行病变多脑叶切除性手术治疗,不仅可以控制癫痫,还可能改善发育.     

Sturge-Weber综合征伴顽固性癫痫的外科治疗（附2例报道并文献复习）

目的探讨Sturge--Weber综合征伴顽固性癫痫的手术治疗及术后疗效。方法报告2例sturge—Weber综合征伴顽固性癫痫的外科治疗,结合文献复习,介绍其临床表现,手术方法及术后疗效。结果术后随访2例患者癫痫发作均消失,其中1例已停用抗癫痫药物治疗。结论sturge—Weber综合征多以癫痫起病,典型CT表现是脑回样钙化灶,手术切除是治疗Sturge--Weber综合征的有效方法,且术后患者癫痫控制满意。     

功能性大脑半球切除治疗婴儿偏瘫伴顽固性癫痫(附2例报道并文献复习)

目的探讨功能性大脑半球切除治疗婴儿偏瘫伴顽固性癫痫的手术方法及术后疗效。方法报道功能性大脑半球切除治疗2例婴儿偏瘫伴顽固性癫痫,结合文献复习,介绍其临床表现、手术方法及术后疗效。结果术后随访发现2例患者癫痫发作均消失,其中1例已停用抗癫痫药物治疗。结论功能性大脑半球切除是治疗婴儿偏瘫伴顽固性癫痫的一种有效方法,术后患者癫痫发作一般均控制满意,且患者的行为得到改善,神经功能缺失症状也未加重。     

Electroencephalographic changes before the onset of symptomatic West syndrome

To clarify the characteristics of the mode of appearance and morphology of epileptiform discharges before the onset of West syndrome (WS). The subjects were 25 infants whose electroencephalograms (EEGs) were recorded before the onset of WS and whose first EEG was recorded before 6 months of corrected age (CA). We extensively analyzed the chronological and topographical changes of the epileptiform discharges before the onset of WS. The location of the initial epileptiform discharges was in the posterior areas in 14 (Group O), the multiple areas in 7 (Group M), and areas other than occipital in 4 (Group non-O). Twelve of the 14 patients in Group O were premature infants, and all but one had PVL. Most patients in Group M were full-term infants or near full-term infants who had hypoxic damage. The ages at the appearance of the initial epileptiform discharges in Group O were significantly later than those in Group M: 3.0–5.9 months of CA in Group O vs. −0.1 to 2.0 months of CA in Group M. These facts suggest that the difference of brain damage is related to both the topographical characteristics and the age at the appearance of initial epileptiform discharges, and around 3 months of CA is a critical period for the appearance of occipital hyperexcitability. Hypsarrhythmia and tonic spasms appeared almost simultaneously from 4 to 6 months of CA in most patients. To predict the occurrence of WS in high-risk infants, EEG follow-ups from early infancy are very useful.     

Callosotomy for epilepsy after West syndrome

PURPOSE: To analyze the results of callosotomy in 17 children with symptomatic generalized epilepsy after West syndrome, according to the different seizure types and surgical procedures, to define selection criteria for candidates to callosotomy. METHODS: Callosotomy was performed in two successive stages. Partial callosotomy, anterior in 13 and posterior in three, was followed by completion in 14 cases in all but four patients (complete callosotomy in one stage in one, no completion in three). All patients had clinical, video-EEG, and neuropsychological evaluation before and after each stage of callosotomy, with a mean final follow-up of 4 years. RESULTS: Seizure frequency improved in only two of 13 patients after anterior callosotomy, in none of three after posterior callosotomy, but in nine of 14 after complete callosotomy. After complete callosotomy, spasms disappeared in 80% of the cases, and drop attacks, the most severe ictal event, completely stopped or were dramatically reduced in 90% of the children. One patient no longer had episodes of status epilepticus, and another one acquired the ability to walk after complete callosotomy. From the cognitive viewpoint, nine patients with improved seizure frequency after complete callosotomy also had improved behavior and cognitive functions, but two others experienced speech deterioration after posterior callosotomy at age 11 years and completion of callosotomy at age 16 years. CONCLUSIONS: As in other severe generalized epilepsies in childhood, drop attacks provide the best indication for complete callosotomy in patients with previous West syndrome. Because drop attacks can be identifiable by falls only, the previous acquisition of walking should be considered as a key feature for any benefit to be obtained.     

复发性Fisher-Bickerstaff综合征2例临床分析

目的探讨复发性Fisher综合征(FS)叠加Bickerstaff脑干脑炎(BBE)的临床特点和疾病命名。方法分析2例复发性Fisher-Bickerstaff综合征的患者的临床资料,并复习相关文献。结果例1表现为复发性睡眠增多、走路不稳、视物成双,肌电图检查提示下肢神经源性损害;例2表现为复发性视物成双、走路不稳,第2次发病出现四肢无力,查体双下肢远端肌力3级,双侧Babinski征阳性,肌电图提示四肢神经源性损害;2例患者除具有眼肌麻痹和共济失调的症状外,都有中枢和周围神经受损的表现;依据患者的病史、查体、临床检测和疾病经过,诊断为复发性Fisher-Bickerstaff综合征,第2例患者叠加吉兰-巴雷综合征。结论具有周围神经损害的BBE和具有中枢神经损害的FS从临床表型上不能截然分开,Fisher-Bickerstaff综合征的概念更能准确地表述这类患者的表型特点。     

伴发癫痫的优势半球外侧裂脑动静脉畸形手术治疗1例并文献复习

目的：探讨外侧裂脑动静脉畸形的手术策略及效果。方法回顾性分析1例伴发癫痫的优势半球外侧裂动静脉畸形患者的临床资料并结合文献复习,对外侧裂动静脉畸形的解剖特点、临床解剖分型、术前功能评估、术中辅助技术的应用以及治疗策略等进行分析讨论。结果本例患者在唤醒麻醉下完整切除,术后言语及运动功能无加重,随访10个月,无癫痫发作,EngelⅠ级。结论外侧裂脑动静脉畸形术前功能评估及术中功能保护极其重要,唤醒麻醉下结合皮层电刺激可以有效保护脑功能区。神经导航辅助下,经皮层功能哑区脑沟入路优先阻断深部供血动脉,可有效控制术中出血。     

干燥综合征伴低钾性周期性麻痹:二例报告并文献复习

目的探讨干燥综合征伴低钾性周期性麻痹的早期诊断和治疗。方法回顾分析2例以低钾性周期性麻痹为首发症状的干燥综合征患者的诊断与治疗经过。结果均以突发性或发作性四肢进行性无力发病,血清钾和氯离子水平显著降低并伴碱性尿;临床免疫学检测抗SS-A抗体、抗SS-B抗体阳性,同时可伴甲状腺功能亢进或减退(血清游离T3、T4水平降低),或肾功能衰竭;唇腺活检提示小唾液腺组织多灶性淋巴细胞浸润或自然唾液流率测定阳性。经枸橼酸钾、氯化钾,以及碳酸氢钠和左甲状腺素(优甲乐)等药物治疗后症状改善。结论对干燥综合征并发低钾血症患者的诊断,依赖于详细的病史询问、体格检查和实验室检查,早期确诊、及时治疗有利于预后。治疗原则以补钾、纠正酸中毒、改善甲状腺功能及对症营养支持治疗为主。     

The spectrum of neuroimaging findings in febrile infection‐related epilepsy syndrome (FIRES): A literature review

Febrile infection‐related epilepsy syndrome (FIRES) is a rare severe epileptic syndrome occurring in previously healthy children and characterized by refractory status epilepticus (SE) following a febrile illness. Brain imaging findings in affected patients have been reported in few case series and some case reports. This article is a comprehensive review of the magnetic resonance imaging (MRI) characteristics in all reported patients with a diagnosis of FIRES, describing the findings in the acute and chronic phases of the disease, and discussing possible pathogenesis and radiologic differential diagnoses. Most of the patients had normal brain scans in the acute phase (61%) and about 25% of the patients reported in literature had abnormalities in the temporal lobes. Changes in the basal ganglia and rarely in thalami or brainstem have also been described, as well as diffuse cerebral edema in a minority of patients during the acute phase. The chronic phase of the disease was characterized by atrophic changes and evidence of mesiotemporal sclerosis. An understanding of these MRI abnormalities is necessary to support the diagnosis of FIRES and exclude mimics.     

Pallister-Hall综合征一例报告并文献复习

目的探讨Pallister-Hall综合征的临床特点、诊断及治疗。方法报告1例男性患者,合并有多指(趾)、指甲发育不良、会厌纵裂畸形、尿道下裂畸形,临床表现为癫痫发作的下丘脑错构瘤。结果翼点入路部分切除肿物,病理证实为下丘脑错构瘤,临床诊断为Pallister-Hall综合征。结论Pallister-Hall综合征是极为罕见的先天性发育畸形。     

Pitfalls in the diagnosis of Jeavons syndrome: a study of 32 cases and review of the literature

Aims. Jeavons syndrome (JS) is mainly characterized by eyelid myoclonia with or without absences. It is thought to be underdiagnosed rather than have a rare prevalence. We aimed to investigate the electroclinical features of JS to determine possible factors influencing the diagnosis. Methods. We retrospectively identified the medical records of 32 cases (0.55%) from 5,796 patients with epilepsy. The inclusion criteria were: (1) eyelid myoclonia with or without absences; (2) generalized paroxysmal activity on EEG; and (3) discharges triggered by eyelid closure and/or intermittent photic stimulation. Results. Eighteen (56.2%) of the patients were female. The mean age at seizure onset was 8.7±5.3 years and the mean age at admission to hospital was 17.8±10.7 years. A family history of epilepsy was present in 15 (46.8%) patients. Eyelid myoclonias were noticed in six (18.7%) patients by themselves. Based on the analysis of video‐EEG recordings, 26 (81.2%) patients were sensitive to eye closure, 22 (68.7%) had photoparoxysmal responses, and 16 (50%) presented with absence seizures. Ten (31.2%) patients had focal epileptic discharges. Eight (25%) patients were on monotherapy. Seven (21.8%) patients achieved seizure freedom. Three patients underwent ketogenic diet therapy, which was effective in two patients. A vagus nerve stimulator was implanted into three patients, one of whom reported seizure reduction. Conclusions. Eyelid myoclonias are the main seizure type of JS but are usually overlooked. The time interval between seizure onset and clinical diagnosis suggests that this syndrome continues to be under‐recognized. The genetic heterogeneity and phenotypic variability are likely to be more extensive than currently recognized, making the diagnosis more phalangine. [Published with video sequence].     

脑深部电刺激双侧苍白球治疗Meige综合征3例并文献回顾

目的： Meige综合征是一种特发性累及头面部的肌张力障碍,有时也会影响到颈部。脑深部电刺激（DBS）双侧苍白球内侧部（GPi）治疗肌张力障碍的报道比较多,但治疗Meige综合征的很少。方法对3例双侧GPi-DBS术后的Meige综合征患者进行随访4、6和60个月。所有患者术前术后均采用国际通用的Burke-Fahn-Marsden Dystonia Rating 量表（BFMDRS）评分,包括BFMDRS-Ⅰ（Movement 量表）和BFMDRS-Ⅱ（Disability量表）两个部分。结果3例Meige综合征患者手术后症状均有明显改善,BFMDRS第一部分和第二部分评分的改善率分别为（78±3．1）％（范围75％～83％）和100％。结论双侧GPi-DBS是治疗原发性Meige综合征的一种有效安全的手术方式。