Gait epilepsy. A case report of gait-induced seizures

Reflex epilepsy includes a group of epileptic syndromes in which seizures are induced by a stimulus, either simple (visual, somatosensory, olfactory, auditory) or more complex (e.g., eating, thinking, reading). We document a case of reflex epilepsy in which focal seizures are triggered exclusively by gait. The patient is a young boy whose walking was impaired by abnormal motor phenomena on the left side. These phenomena were elicited by gait and were accompanied by a distinctive ictal pattern with centro-temporal discharges. After comparing this patient with others reported in the literature, we determined that he has an unusual type of reflex epilepsy for which we coined the term "gait epilepsy." This disorder must be considered when physicians are making a differential diagnosis in patients who have symptoms that suggest paroxysmal kinesigenic dystonia (PKD) or selective epileptic gait disorder.     

Opercular reflex seizures: a case report with stereo-electroencephalographic demonstration.

Reflex epileptic seizures of opercular origin have been described previously based on video-electroencephalographic monitoring, but very few patients have been explored with depth electrodes. We report a woman with late-onset epilepsy who had intractable seizures despite trials of several antiepileptic drugs. At the time of the depth-electrode recordings, seizures were usually continuous and occurred either spontaneously or were induced by movements of the jaw and mouth. The seizures originated in the deep central opercular cortex; localization was confirmed by a good surgical outcome.     

Focal reading epilepsy--a rare variant of reading epilepsy: a case report

Reading epilepsy is a distinct form of epilepsy in which all or almost all seizures are precipitated by reading. Seizures typically show orofacial or jaw myoclonus. Nevertheless, reading epilepsy is not homogenous and its classification is unclear. We report a patient with reading-induced prolonged left temporal seizures, presenting clinically as dyslexia.     

全面性癫痫伴热性惊厥附加症一家系报道及文献复习

目的 分析并确定一个全面性癫痫伴热性惊厥附加症(GEFS+)家系临床表型. 方法 收集先证者及其家系成员临床资料进行分析总结并建立完善的家系谱. 结果 该家系为典型GEFS+家系,6代共有20例受累成员,临床表型9例为热性惊厥(FS),4例为热性惊厥附加症(FS+). 结论 GEFS+具有表型异质性和遗传异质性,常见表型为FS和FS+,为常染色体显性遗传,家族史调查是诊断该病的关键.     

Spatio-temporal dynamics of interictal activity in musicogenic epilepsy: Two case reports and a systematic review of the literature

ObjectiveTo explore neurophysiological features of musicogenic epilepsy (ME), discussing experimental findings in the framework of a systematic review on ME.MethodsTwo patients with ME underwent high-density-electroencephalography (hd-EEG) while listening to ictogenic songs. In one case, musicogenic seizures were elicited. Independent component analysis (ICA) was applied to hd-EEG, and components hosting interictal and ictal elements were identified and localized. Finally, the temporal dynamics of spike-density was studied relative to seizures. All findings were compared against the results of a systematic review on ME, collecting 131 cases.ResultsInterictal spikes appeared isolated in specific fronto-temporal independent components, whose cortical generators were located in the anterior temporal and inferior frontal lobe. In the patient undergoing seizure, ictal discharge relied in the same component, with the interictal spike-density decreasing before the seizure onset.ConclusionOur study shows how ICA can isolate neurophysiological features of ictal and interictal discharges in ME, highlighting a fronto-temporal localization and a suppression of spike-density preceding the seizure onset.SignificanceWhile the localization of ME activity could indicate which aspect within the musical stimulus might trigger musicogenic seizures for each patient, the study of ME dynamics could contribute to the development of models for seizure-prediction and their validation.     

神经皮肤黑变病合并部分性癫疒间

目的：讨论神经皮肤黑变病（NCM）合并部分性癫疒间的手术治疗及效果。方法回顾性分析1例NCM合并癫疒间病人的临床资料。皮质电极监测后,行颞极及颞叶新皮质部分切除术。结果术后脑组织病理提示：颞极见大量黑色素细胞,原发性脑膜黑色素细胞增生症。皮肤病理提示复合性色素痣。术后10个月无癫疒间发作。Engel分级Ⅰ级。结论 NCM是癫疒间的罕见原因,但手术治疗效果满意。致疒间灶切除术是一种安全有效的治疗方法。     

Occipital lobe epilepsy was presented in a patient with intracerebral schwannoma: a case report and literature review

Schwannoma arising within brain parenchyma is a rare scenario. So far, only 70 cases were reported. We reported a case of intracerebral schwannoma presented with occipital lobe epilepsy, which has never been reported before. A 19-year-old man suffered from intermittent blurred vision and headache. Neuroradiological findings showed a left occipital lesion with cystic and solid components. Histological and electron micrograph features confirmed the diagnosis of schwannoma after the tumor was totally removed. The theories and literature related to this case were reviewed and the possible developmental origin was discussed. We found that this kind of schwannoma is more often in adolescent and young adults.     

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.     

Musicogenic Epilepsy: Review of the Literature and Case Report with Ictal Single Photon Emission Computed Tomography

Summary: Purpose : We report a case of musicogenic epilepsy with ictal single photon emission computed tomography (SPECT) study and discuss the findings of this patient in the context of 76 cases with musicogenic epilepsy described in the literature and seven other cases followed in Zurich.
Methods : We analyzed the 83 patients according to the precipitating musical factors, type of epilepsy, presumed localization of seizure onset, and demographic data.
Results : Fourteen of 83 patients (17%) had seizures triggered exclusively by music. At time of examination, music was the only known precipitating stimulus in 65 of 83 patients (78%). Various characteristics of the musical stimulus were significant, e.g., musical category, familiarity, and instruments.
Conclusions : Musicogenic epilepsy is a particular form of epilepsy with a strong correlation to the temporal lobe and a right-sided preponderance. A high musical standard might predispose for musicogenic epilepsy. Moreover, the majority of cases do not fall into the category of a strictly defined "reflex epilepsy", but appear to depend on the indermediary of a certain emotional reaction mediated through limbic mesial temporal lobe structures.     

Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review

Introduction

Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharmacoresistant epileptic encephalopathy that usually begins in the neonatal period. However, its phenotypic spectrum is wide and not limited to seizures. We report a new case of PDE who developed hydrocephalus, along with an exhaustive review of the literature.

脑磁图定位顽固性癫痫手术治疗51例临床分析

目的　探讨脑磁图在顽固性癫痫术前评估的价值。方法　术前对 5 1例顽固性癫痫患者行脑磁图、磁共振及视频脑电检查 ,结合术中皮层脑电图分别进行选择性海马杏仁核切除术、标准前颞叶切除术及致痫灶切除术等手术 ;并用脑磁图定位神经导航下手术切除致痫灶 2例 ,神经导航下海马杏仁核切除 2例。结果　术后发作完全停止的占 76 5 % ,发作减少 >75 %的占 11 8% ,发作减少>5 0 %的占 5 8% ,发作减少不足 5 0 %的占 5 8% ;脑磁图与视频脑电及皮层脑电图的定位符合率分别为 82 %和 96 % ;脑磁图对内侧颞叶癫痫的定位敏感性较差 ;脑磁图定位导航手术可在切除致痫灶的同时保护脑的重要结构。结论　脑磁图是一项灵敏的无创性癫痫灶定位方法 ,是癫痫外科术前评估中的一项技术突破     

What is the current evidence on decision-making after referral for temporal lobe epilepsy surgery?: A review of the literature

OBJECTIVES: Many patients thought to have temporal lobe epilepsy, are evaluated for surgical treatment. Decision-making in epilepsy surgery is a multidisciplinary, phased process involving complex diagnostic tests. This study reviews the literature on the value of different tests to decide on whether to operate. METHODS: Articles were selected when based on the consensus decision whether to perform temporal lobe surgery, or on the consensus localization or lateralization of the epileptic focus. The articles were scrutinized for sources of bias as formulated in methodological guidelines for diagnostic studies (STARD). RESULTS: Most studies did not fulfill the criteria, largely because they addressed prognostic factors in operated patients only. Ten articles met our inclusion criteria. In most articles, a single test was studied; SPECT accounted for five papers. Unbiased comparison of the results was not possible. CONCLUSION: Surprisingly little research in epilepsy surgery has focused on the decision-making process as a whole. Future studies of the added value of consecutive tests are needed to avoid redundant testing, enable future cost-efficiency analyses, and provide guidelines for diagnostic strategies after referral for temporal lobe epilepsy surgery.     

Epilepsy and trimethylaminuria: A new case report and literature review

Trimethylaminuria is a metabolic disorder characterized by the excessive excretion of trimethylamine in bodily secretions, which confers a very unpleasant odour resembling that of dead fish. Literature reports only two cases affected by trimethylaminuria and epilepsy. We describe a third patient who, from the age of seven, was affected by temporal focal seizures with nocturnal episodes of nausea, vomiting, anxiety and autonomic activation followed by headache. EEG showed focal paroxysmal abnormalities prevailing on the right temporo-parieto-occipital regions. We began administering levetiracetam and seizures stopped. Our patient also showed learning disabilities despite a normal intelligence quotient (IQ), while another described patient had an IQ varying from borderline to mild mental retardation. We discuss the association between trimethylaminuria and epilepsy, and formulate some hypotheses on the relationship between trimethylamine convulsive effect and the anticonvulsive role of levetiracetam.     

Drug-resistant temporal lobe epilepsy due to middle fossa meningoencephalocele in a child: A surgical case report

BackgroundMeningoencephalocele (ME) of the temporal lobe through a bone defect in the middle cranial fossa is a rare known cause of refractory temporal lobe epilepsy (TLE). ME-induced drug-resistant TLE has been described in adults; however, its incidence in children is very rare.Case reportA 7-year-old girl presented at our hospital with brief episodes of impaired consciousness and enuresis. Initial brain MRI results were interpreted as normal. Her seizures could not be controlled even with multiple anti-seizure medications. She was diagnosed with drug-resistant TLE, which presented with prolonged impaired awareness seizures for 30–60 s and secondary bilateral tonic seizures. At 9 years of age, brain MRI revealed a left temporal anteroinferior ME with a congenital bone defect in the left middle cranial fossa. She was referred for presurgical epilepsy evaluation. Long-term video electroencephalography (EEG) failed to reveal regional abnormality in the left temporal lobe; invasive evaluation using stereoelectroencephalography (SEEG) was thus indicated.Ictal onset SEEG was identified in the temporal pole near the ME which was rapidly propagated to the mesial temporal structures and other cortical regions. The left temporal pole including the ME was micro-surgically disconnected while preserving the hippocampus and amygdala. The patient’s seizures have been completely controlled for 1 year and 6 months post-operatively.ConclusionSEEG revealed rapid propagation of ictal activity in this patient’s case, confirming that the ME was epileptogenic. Since the majority of patients with refractory epilepsy caused by ME have favorable postoperative seizure outcomes, it is important to carefully check for ME in drug-resistant TLE patients with apparently normal MRI.     

Praxis induction. Definition,relation to epilepsy syndromes,nosological and prognostic significance. A focused review

PurposeThere is increasing awareness that reflex epileptic mechanisms provide unique insight into ictogenesis in human epilepsies. Several of the described triggers have in common that they imply complex visuomotor coordination and decision-making; they are today regarded as variations of one principle, i.e. praxis induction (PI). This focused review considers PI from the aspects of history and delineation, clinical and electroencephalographic presentation, syndromatic relations, prevalence, mechanisms of ictogenesis and nosological implications, treatment and prognosis.MethodsWe reviewed a series of published articles and case reports on PI in order to clarify clinical and electroencephalographic findings, treatment and outcome.ResultsFindings of both induction and inhibition by the same stimuli suggest widening the reflex epilepsy concept into a broader one of epilepsies with exogenous modification of ictogenesis. PI is closely related to juvenile myoclonic epilepsy (JME) where hyperexcitability and hyperconnectivity of the entire network of visuomotor coordination seem to provide the precondition for eliciting reflex myocloni in the musculature active in the precipitating task.ConclusionThe conclusions on ictogenesis derived from PI support the concept of JME as a system disorder of the brain.     

Melanotic cerebral astrocytoma: case report and literature review

We describe the case of 47-year-old man with a cystic, melanotic temporal lobe astrocytoma who had a history of complex partial seizures. The tumor mass was made up of two histologically different regions: one consisted of spindle-shaped and pleomorphic cells often with foamy or vacuolated cytoplasm, while the other consisted of fairly uniform spindle-shaped cells, many of which contained dark-brown intracytoplasmic pigment. Desmoplasia was also noted in the latter region of the tumor. No features suggestive of malignancy, such as mitotic figures, necrotic foci or endothelial vascular proliferation, were observed throughout the tumor. Immunohistochemically, the tumor cells in both regions were positive for glial fibrillary acidic protein. Ultrastructural examination of the pigmented region showed the presence of melanosomal melanin in the tumor cells. Apart from the partial pigmentation, the entire histological picture resembled a pleomorphic xanthoastrocytoma. To our knowledge, only two cases of similar melanotic astrocytic tumors have been described previously. Interestingly, the astrocytic tumors in both of these patients were also clinically associated with epilepsy, were located in the temporal lobe, and were histologically benign. Received: 8 July 1996 / Revised, accepted: 10 September 1996     

Pseudohyperkalemia due to cryohydrocytosis in GLUT1 deficiency syndrome. A case report and literature review

Cryohydrocytosis is a form of stomatocytosis characterized by the leakage of sodium and potassium from red blood cells at low temperatures, characterized by pseudohyperkalemia. Stomatin-deficient cryohydrocytosis is an extremely rare variant that only recently has been related to pathogenic variants in the SLC2A1 gene, encoding the main glucose transporter of the blood–brain barrier and red blood cells, GLUT1. It follows that GLUT1 deficiency syndrome, a rare but significant cause of metabolic epilepsy, may present with stomatin-deficient cryohydrocytosis, although this correlation has only been reported in a few instances. We present the case of a patient carrying a novel de novo SLC2A1 pathogenic variant presenting with GLUT1 deficiency syndrome, pseudohyperkalemia, and splenomegaly consistent with cryohydrocytosis. We also review the previously reported cases of stomatin-deficient cryohydrocytosis in the literature. As highlighted by our case, elevated potassium levels are a cause of concern, and GLUT1 deficiency syndrome patients are thus at risk of being subjected to unnecessary examinations; pseudohyperkalemia may be underrecognized in clinical practice.     

大脑半球切开术一例报道并文献复习

目的通过我们的1例患者探讨大脑半球切开术的操作技术并附有简单的文献复习。方法 1例12岁女孩,诊断为药物难治性癫痫。临床表现为简单部分性发作,发作频繁。影像学显示左侧大脑半球弥漫性软化灶。经过充分的术前准备,在导航系统引导下行改良的经岛周大脑半球切开术,手术过程顺利。结果术后患者恢复良好,右侧肢体运动功能无明显下降,言语功能正常。术后随访6个月未再有癫痫发作。结论结合文献复习,大脑半球切开术是功能性大脑半球切除术的彻底改良,手术操作可行,具有和大脑半球切除术相同的疗效,远期并发症明显减少。