Temporal lobe malacia as a rare cause of gelastic seizure:A case report

BACKGROUND Gelastic seizure(GS)is a rare type of epilepsy that most commonly appears in patients with hypothalamic hamartoma.It is rarely associated with other types of brain damage.This particular type of epilepsy is relatively rare and has few links to other brain lesions.Temporal lobe malacia is mostly caused by cerebral infarction or cerebral hemorrhage,which can lead to seizures.We report a case of GS in a woman with temporal lobe malacia which was reported for the first time in the literature.CASE SUMMARY A 73-year-old female,diagnosed case of GS,presented with repetitive stereotyped laughter a month prior to presentation,happening multiple times daily and with each time lasting for 5-15s.Electroencephalogram displayed a focal seizure seen in the right temporal region.Magnetic resonance imaging head with contrast showed a right temporal lobe malacia.The patient was started on levetiracetam daily.The patient indicated that they had fully recovered and were not experiencing any recurrent or stereotyped laughter during their daily routines.These results remained consistent even after a one-year follow-up period.CONCLUSION GS can be caused by temporal lobe malacia,which is an uncommon but potentially grave condition.The outcome of this present case exhibited the importance of the temporal lobe in the genesis of GS.

Glutamic acid decarboxylase 65-positive autoimmune encephalitis presenting with gelastic seizure, responsive to steroid: A case report

BACKGROUND Anti-glutamic acid decarboxylase(GAD)antibody is known to cause several autoimmune-related situations.The most known relationship is that it may cause type I diabetes.In addition,it was also reported to result in several neurologic syndromes including stiff person syndrome,cerebellar ataxia,and autoimmune encephalitis.Decades ago,isolated epilepsy associated with anti-GAD antibody was first reported.Recently,the association between temporal lobe epilepsy and anti-GAD antibody has been discussed.Currently,with improvements in examination technique,many more autoimmune-related disorders can be diagnosed and treated easier than in the past.CASE SUMMARY A 44-year-old female Asian with a history of end-stage renal disease(without diabetes mellitus)under hemodialysis presented with diffuse abdominal pain.The initial diagnosis was peritonitis complicated with sepsis and paralytic ileus.Her peritonitis was treated and she recovered well,but seizure attack was noticed during hospitalization.The clinical impression was gelastic seizure with the presentation of frequent smiling,head turned to the right side,and eyes staring without focus;the duration was about 5–10 s.Temporal lobe epilepsy was recorded through electroencephalogram,and she was later diagnosed with anti-GAD65 antibody positive autoimmune encephalitis.Her seizure was treated initially with several anticonvulsants but with poor response.However,she showed excellent response to intravenous methylprednisolone pulse therapy.Her consciousness returned to normal,and no more seizures were recorded after 5 d of intravenous methylprednisolone treatment.CONCLUSION In any case presenting with new-onset epilepsy,in addition to performing routine brain imaging to exclude structural lesion and cerebrospinal fluid studies to exclude common etiologies of infection and inflammation,checking the autoimmune profile has to be considered.In the practice of modern medicine,autoimmune-related disorders are relatively treatable and should not be missed.

Neural network mapping of gelastic behavior in children with hypothalamus hamartoma

Background Hypothalamus hamartomas(HHs)are rare,congenital,tumor-like,and nonprogressive malformations resulting in drug-resistant epilepsy,mainly affecting children.Gelastic seizures(GS)are an early hallmark of epilepsy with HH.The aim of this study was to explore the disease progression and the underlying physiopathological mechanisms of pathological laughter in HH.Methods We obtained clinical information and metabolic images of 56 HH patients and utilized ictal semiology evaluation to stratify the specimens into GS-only,GS-plus,and no-GS subgroups and then applied contrasted trajectories inference(cTI)to calculate the pseudotime value and evaluate GS progression.Ordinal logistic regression was performed to identify neuroimaging-clinical predictors of GS,and then voxelwise lesion network-symptom mapping(LNSM)was applied to explore GS-associated brain regions.Results cTI inferred the specific metabolism trajectories of GS progression and revealed increased complexity from GS to other seizure types.This was further validated via actual disease duration(Pearson R=0.532,P=0.028).Male sex[odds ratio(OR)=2.611,P=0.013],low age at seizure onset(OR=0.361,P=0.005),high normalized HH metabolism(OR=−1.971,P=0.037)and severe seizure burden(OR=−0.006,P=0.032)were significant neuroimaging clinical predictors.LNSM revealed that the dysfunctional cortico-subcortico-cerebellar network of GS and the somatosensory cortex(S1)represented a negative correlation.Conclusions This study sheds light on the clinical characteristics and progression of GS in children with HH.We identified distinct subtypes of GS and demonstrated the involvement of specific brain regions at the cortical–subcortical–cerebellar level.These valuable results contribute to our understanding of the neural correlates of GS.

非下丘脑性发笑性癫痫发作的定位定侧分析

目的分析发笑性癫痫发作患者的临床特点,以确定癫痫病灶位置,为手术治疗提供参考。方法回顾性分析本院就诊10例发笑癫痫发作患者的临床特点,包括发作的特点、影像学的特征以及手术治疗结果等。结果 10例患者均接受手术治疗,其中8例完成分期颅内电极埋置。术后8例达到EngleⅠ级缓解,1为Ⅱ级,另外1例术后发作无明显改变。结论非下丘脑病损所致发笑样癫痫发作者若不伴有情感症状出现,病灶多在额叶,并以辅助运动区为常见,伴有情感症状者多定位于颞叶。同时,发笑症状在发作过程的早期或者单独出现者定位很可能位于右侧大脑半球,反之,在晚期出现应考虑在左侧大脑半球的定位。

癫癎痴笑发作8例临床分析

目的总结癫癎痴笑发作（GS）的病因、临床特点和临床进展，为制定临床诊疗决策提供依据。方法：2012年1月～2013年12月，结合患者头颅MRI、PET—CT和24 h视频脑电图（V-EEG）检查结果及典型GS的临床表现，收集8例门诊诊断为GS的病例进行分析。结果：根据患者的临床表现和辅助检查综合判断，6例诊断为症状性GS，2例隐原性GS。其中3例仅有痴笑发作，5例合并有1～2种其他发作类型。所有患者均接受1～3种抗癫癎药治疗，结果3例发作得到控制，2例发作减少〉50％，3例无效。结论：通过分析病历，进一步强调了除下丘脑错构瘤为常见病因外，额、颞、顶、枕等脑叶的病变也可导致GS。对MRI正常的患者，PET—CT能更好地显示病灶。对于EEG和MRI均正常的患者，典型的临床症状和诊断性治疗更有助于早期确诊及改善预后。

癫痫大鼠海马谷氨酰胺合成酶的变化

目的观察戊四氮点燃慢性癫痫模型海马星形胶质细胞谷氨酰胺合成酶的变化,探讨谷氨酰胺合成酶在癫痫发生中的作用。方法通过免疫组织化学染色法和酶活性测定法,研究海马内谷氨酰胺合成酶表达细胞差异以及酶活性改变。结果慢性癫痫大鼠海马星形胶质细胞被激活,细胞体积增大,突起粗大,谷氨酰胺合成酶的表达阳性,但较正常组明显减少,而GFAP表达增高;慢性癫痫大鼠海马谷氨酰胺合成酶的活性明显降低。结论谷氨酰胺合成酶缺乏可能是癫痫发生的一个分子基础。

伽玛刀治疗下丘脑错构瘤临床疗效分析

目的探讨伽玛刀治疗下丘脑错构瘤的方法和效果。方法对9例下丘脑错构瘤导致的痴笑癫痫患者进行了伽玛刀治疗,选用4、8mm准直器,40%～55%等剂量曲线覆盖90%病灶,中心剂量28～40Gy,边缘12～18Gy,根据谭氏标准评价治疗结果。结果没有伽玛刀治疗引起的并发症发生,随访24～54个月,7例有效,其中1例几乎不发作,3例癫痫很少发作,2例癫痫发作明显减少,1例癫痫发作有减少,2例无效。结论严格掌握适应证,伽玛刀治疗下丘脑错构瘤引起的癫痫有良好的治疗效果,是一种经济有效、副作用少的治疗技术。

维生素D有效控制非癫痫性痴笑发作一例报道并文献复习

临床发作性事件分为癫痫性发作和非癫痫性发作,通过视频脑电图可明确诊断,如果发作同期视频脑电图出现癫痫波即可诊断为癫痫性发作,否则可诊断为非癫痫性发作。而非癫痫性发作临床易误诊为癫痫,导致不合理的治疗。本文通过报道1例使用维生素D控制非癫痫性痴笑发作患者,回顾性分析并总结其临床特征、治疗及预后,旨在提高临床医师对该病的早期识别水平,以减少误诊、误治。同时也建议临床医师对于癫痫临床治疗效果欠佳时,应及时复查视频脑电图,进一步明确诊断,避免不合理的治疗给患者及其家属带来沉重的精神负担。

成人痴笑性发作患者6例临床表现、治疗及相关文献复习

目的了解痴笑性发作的临床特点及治疗。方法回顾性总结6例痴笑性发作的临床特征与抗癫痫药物治疗情况。结果 6例患者均突发突止,反复发生,发作时间短,无外界诱因,不伴任何情感色彩;随病程的延长发作次数增多,可伴有其他类型的癫痫发作,如强直—阵挛性发作、肌阵挛性发作、复杂部分性发作;发作期或发作间期脑电图有痫性放电,但无特异性;6例患者经抗癫痫药物治疗2例癫痫消失,另外4例伴随的癫痫发作可被控制,但发作性痴笑不能被全部有效控制。结论痴笑发作是由多种病因引起的以发笑为主要表现的一种特殊类型癫痫,合并的癫痫发作可被控制,发作性痴笑对抗癫痫药物不敏感,但隐源性痴笑发作预后可能更理想。

How would we deal with hypothalamic hamartomas?

Hypothalamic hamartoma(HH) is usually associated with refractory epilepsy, cognitive impairment, and behavioral disturbance. There is now increasing evidence that HH can be treated effectively with a variety of neurosurgical approaches. Treatment options for intractable gelastic seizure in HH patients include direct open surgery with craniotomy, endoscopic surgery, radiosurgery with gamma knife and stereotactic radiofrequency thermocoagulation. Selection of treatment modalities depends on type and size of the HH and the surgeon's preference. Two surgical techniques, resection and disconnection, had been described with favorable outcomes. Pretreatmentevaluation, patient selection, surgical techniques, complications, and possible selection of treatment are discussed.

发笑性癫痫的研究进展

发笑性癫痫(Gelastic seizure,GS)是一种不合时宜的以爆发性发笑为主要临床特点,伴或不伴其他癫痫性发作事件的癫痫发作类型,按症状出现时间、有无情绪改变及意识障碍情况分为单纯性和非单纯性发笑发作。笑的产生的神经通路主要分为情感和意志两大通路,其神经网络涉及了额叶、岛叶、边缘叶、颞叶、脑干等相关神经结构。GS最常见的病因为下丘脑错构瘤,立体定向脑电图可以记录到病变本身的放电,手术切除下丘脑错构瘤可以使大多数患者GS发作立即消失,少数患者症状得到部分改善其头皮脑电图仍可监测到癫痫样放电,尽早手术治疗可能改善预后。非下丘脑源性GS,影像学检查无明显异常者,脑电图多为局灶性放电并且对抗癫痫发作药物治疗效果较好,而影像学提示结构异常的患者多为多灶性放电且对药物治疗效果较差,少数药物难治性非下丘脑源性的GS手术治疗可以有效控制症状。本文对GS这一个较为少见的癫痫发作类型的病因、涉及的神经网络、脑电特点、治疗选择进行综述,以期提高对该病的认识。

Adult‑onset hypothalamic hamartoma:origin of epilepsy?

Background Hypothalamic hamartoma(HH)is a congenital non-progressive lesion of hypothalamus during fetal development.Mass-like lesions in different anatomical locations often develop a variously disabling course presenting with cognitive decline,psychiatric symptoms,as well as multiple seizure types.As a rare disease,HH is relatively common in infants and children,but it is extremely rare in adults.Case presentation We reported a case of adult-onset hypothalamic hamartoma,and summarized and analyzed relevant reports and studies of HH worldwide.The patient had clinical manifestations characterized by multiple seizure forms.After stereotactic radiofrequency thermocoagulation and drug treatment,the condition was effectively controlled.The patient was followed up till October 2022,with no recurrence of seizures.Conclusions Epilepsy caused by HH can resemble that of temporal lobe seizures,as HH forms a complex epileptogenic network with other regions of the brain through anatomical and functional connections.Early treatment of HH can provide better control of the symptoms of epilepsy,and patients with longer disease courses may have more complications.

下丘脑错构瘤40例临床分析

目的 总结下丘脑错构瘤的诊断和治疗。方法 40例下丘脑错构瘤 ,男∶女 =1 35∶1;发病年龄为 2个月至 5 1岁 ,中位数为 12 .5个月。 15岁以下儿童 32例 (80 % ) ,成人 (18岁以上 ) 4例 (10 % )。其临床主要特点为痴笑样癫痫和性早熟 ,少数还有其它类型癫痫、智力低下或合并先天畸形 ;其中单纯性早熟者 19例 (4 8% ) ,性早熟合并癫痫者 14例 (35 % ) ,单纯癫痫者 7例 (18% )。CT、MRI显示脚间池或垂体柄后上方有等信号 (等密度 )病变 ,注药无强化。手术治疗 2 7例 ,除 1例采用经纵板入路外 ,均采用经翼点入路切除错构瘤 ;γ刀治疗 8例 ;药物治疗 1例。结果 全切 14例(5 2 % ) ,其中 10例为单纯性早熟者 ,均治愈 ;大部切除 13例 ,症状明显好转 ,手术有效率为 97% ;单纯γ刀治疗的 5例中有效 1例 ,余 4例观察时间尚短 ,而难以判断 ;药物治疗性早熟有效 ,但对痴笑样癫痫及其它类型癫痫无效。结论 下丘脑错构瘤首选治疗为手术切除。

儿童下丘脑错构瘤导致癫痫的手术治疗

目的 探讨儿童下丘脑错构瘤导致癫痫的手术治疗。方法 报告儿童下丘脑错构瘤 11例 ,男 6例 ,女 5例 ,年龄为 2～ 15岁 ,发病年龄为 2个月至 14岁。首发症状为痴笑样癫痫者 10例 ,为癫痫大发作者 1例 ,伴发性早熟 6例 ,伴发跌倒发作 3例 ,伴发癫痫大发作 6例。手术 :翼点入路10例 ,终板入路 1例。术中错构瘤深部电极检测 4例。结果 全切错构瘤 2例 ,大部切除 8例 ,部分切除 1例 ,术中错构瘤深部电极显示棘波 1例。随诊 19至 90个月 ,痊愈 2例 ,有效 9例 ,术后一过性动眼神经麻痹 3例。结论 手术切除错构瘤可有效治疗儿童下丘脑错构瘤导致的癫痫。

经胼胝体穹隆间入路切除下丘脑内型错构瘤

目的探讨下丘脑内型错构瘤的手术治疗方法。方法报告4例下丘脑内型错构瘤,采用右额后开颅经胼胝体-透明隔-穹隆间入路切除下丘脑内型错构瘤。结果4例均为儿童,男女为31,均以癫痫发作为主要症状,错构瘤为大部切除或部分切除,术后低钠血症1例,轻度尿崩1例,无其他合并症。随诊半年至1.5年,无任何癫痫发作。结论经胼胝体-透明膈-穹隆间入路是下丘脑内型错构瘤的最佳手术入路,错构瘤大部切除或部分切除即可取得满意疗效。

长程视频脑电监测在下丘脑错构瘤诊断治疗中的应用(附5例报告)

目的探讨长程视频脑电监测在下丘脑错构瘤诊断治疗中的应用意义。方法回顾性分析5例下丘脑错构瘤长程视频脑电(VEEG)特征,VEEG结合磁共振成像(MRI)、发作间期正电子发射计算机断层扫描(PET)检查诊断定位。结果发作间期清醒平静状态脑电图表现:双侧波形均呈不对称表现,双侧存在广泛单发性棘慢波或者双侧广泛不规则θ或δ波,一侧波幅优势,主要为一侧额叶优势,2例左侧优势,3例右侧优势,优势侧别同MRI显示的错构瘤侧别一致;睡眠期脑电图表现:存在基本睡眠标志波形与睡眠周期,间有较多量棘慢波或多棘慢波,存在形式同间期清醒平静状态;5例均捕获临床发作过程,共计13次,其中痴笑发作8次、痴笑发作继发全身强直阵挛5次,发作期脑电图表现:3例为去同步化低电压数秒后EEG混合肌电干扰,2例以肌电伪差为主。MRI结果:下丘脑脚间池处部位可见占位性改变,位于左侧半球2例、右侧半球3例。PET结果:MRI所提示的占位性改变区域均显示低代谢。5例均手术彻底去除错构瘤,随访5例患者术后均无痴笑发作或继发全身强直阵挛。结论长程视频脑电监测结合MRI及PET检查对下丘脑错构瘤诊断定位准确性高,手术治疗下丘脑错构瘤是最佳选择。

奥卡西平治疗痴笑发作1例

1临床资料患者，女，36岁，体重60kg，因阵发性痴笑5年于2013年7月9日来诊。2008年春患者突然出现阵发性痴笑，呼之能应，但不能言语，每次历时数秒钟至半分钟不等，过后对发作过程能完整回忆，发作时不能自行控制，偶伴有小便失禁。有时呈比较自然的发笑，有时哭和笑混合出现。发作前后无明显不适。刚开始时发作频率为1～2次／d，间隔时间不固定。曾于2008年在当地医院行脑MRI正常，且未影响日常的生活和劳动，故未在意。但发作逐渐增多，

下丘脑错构瘤致痫神经机制的研究进展

下丘脑错构瘤是一种罕见的先天发育畸形,临床上可引起性早熟、癫痫、认知行为及精神障碍三大表现。下丘脑错构瘤是研究人类皮层下癫痫的最佳在体模型,其致痫机制是目前癫痫病学的研究热点。深入探索并揭示其内在的致痫机制,可拓展我们的研究思路,最终为患者带来新的疗法。笔者现围绕下丘脑错构瘤致痫神经机制的最新研究进展综述如下。

^(18)F-FDG-PET glucose hypometabolism pattern in patients with epileptogenic hypothalamic hamartoma

Epileptogenic hypothalamic hamartoma is characterized by intractable gelastic seizures.A systematic analysis of the overall brain metabolic pattern in patients with hypothalamic hamartoma(HH)could facilitate the understanding of the epileptic brain network and the associated brain damage effects of HH.In this study,we retrospectively evaluated 27 patients with epileptogenic HH(8 female patients;age,2–33 years)by using ^(18)F-fluorodeoxyglucose-positron emission tomography.The correlations among tomography result,seizure type,sex,and structural magnetic resonance imaging were assessed.Whole metabolic patterns and voxel-based morphometry findings were assessed by group analysis with healthy controls.Assessment of the whole metabolic pattern in patients with HH revealed several regional metabolic reductions in the cerebrum and an overall metabolic reduction in the cerebellum.In addition,areas showing hypometabolism in the neocortex were more widely distributed ipsilaterally than contralaterally to the HH.Reductions in glucose metabolism and gray matter volume in the neocortex were predominant ipsilateral to the HH.In conclusion,the glucose hypometabolism pattern in patients with epileptogenic HH involved the neocortex,subcortical regions,and cerebellum.The characteristics of glucose hypometabolism differed across seizure type and sex.Reductions in glucose metabolism and structural changes may be based on different mechanisms,but both are likely to occur ipsilateral to the HH in the neocortex.We hypothesized that the dentato-rubro-thalamic tract and cerebro-ponto-cerebellar tract,which are responsible for intercommunication between the cerebral cortex,subcortical regions,and cerebellar regions,may be involved in a pathway related to seizure propagation,particularly gelastic seizures,in patients with HH.

下丘脑错构瘤的临床特点和手术治疗体会

目的总结下丘脑错构瘤的临床特点和手术治疗体会。方法对我科2013年7月至2018年1月收治的9例诊断为下丘脑错构瘤病例的临床资料进行回顾性分析,并复习相关文献。结果下丘脑错构瘤可引起与病程相关的进展性癫痫性脑病,临床表现为中枢性性早熟、多种癫痫发作及认知和精神方面损害,最具特征性表现为发(痴)笑发作或哭泣样发作但并不是必须存在。脑电图无特异性,详细的核磁共振检查是确诊和分型的重要依据。随着病程的延长,可以在下丘脑错构瘤以外形成新的致痫灶,有时需要电极植入甄别。本组手术病例根据需要采取了不同策略:直接切除下丘脑错构瘤、下丘脑错构瘤加皮层切除、SEEG监测技术下的射频热凝毁损术。经过2个月至4年半的随访,发作均得到较好控制,神经功能损害较术前有不同程度恢复。结论根据典型临床表现,结合详细的影像学检查,诊断不难。根据下丘脑错构瘤的分型结合病史、发作表现采取不同的治疗策略能获得很好的疗效。