Surgical treatment of temporal lobe epilepsy: comparative results of selective amygdalohippocampectomy versus anterior temporal lobectomy from a referral center in Brazil / Tratamento cirúrgico da epilepsia do lobo temporal: resultados comparativos da amigdalohipocampectomia seletiva versus lobectomia temporal anterior em um centro de referência no Brasil

Abstract Background Temporal lobe epilepsy (TLE) is a high prevalence neurological disorder. Surgery has emerged as a promising treatment. Objective The objective of this work is to compare the surgical results of anterior temporal lobectomy (ATL) versus selective amygdalohippocampectomy (SAH) in a cohort of 132 patients. Methods We performed a retrospective study of 146 patients operated for TLE from 2008 to 2019. Initially, 13 patients were excluded from the study due to insufficient medical record data or follow-up loss. One patient was excluded from the analysis of the results due to death in the first postoperative week. We used the ILAE scale to classify seizure control after surgery. In patients with left hippocampal sclerosis, SAH was performed and in right temporal lobe epilepsy, ATL was the approach of choice. Results The mean follow-up time after surgery was 57.2 months (12-137). In our data analysis, we found that the group of patients undergoing ATL had a higher prevalence of being completely seizure-free (ILAE I) (57.1% versus 31%) and a higher rate of satisfactory seizure control (88.6% versus 69.3%) p = 0,006, when compared with patients undergoing SAH. Conclusions The literature is still controversial about seizure control concerning the technique used due to the lack of a robust methodology. Our data analysis identified the superiority of ATL over SAH in seizure outcomes. ATL may be the best option for adequately controlling seizures with minimal additional morbidity in countries with a cost limitation for extended propaedeutics.

Resumo Antecedentes A epilepsia do lobo temporal (TLE) é uma desordem neurológica de alta prevalência. A cirurgia surgiu como um tratamento promissor. Objetivo O objetivo deste trabalho é comparar os resultados da lobectomia temporal anterior (ATL) versus amigdalohipocampectomia seletiva (SAH) em uma coorte de 132 pacientes. Métodos Realizamos um estudo retrospectivo de 146 pacientes operados por TLE de 2008 a 2019. Inicialmente, 13 pacientes foram excluídos por insuficiência de dados em prontuário ou perda de seguimento. Um paciente foi excluído da análise por óbito na primeira semana de pós-operatório. Usamos a escala ILAE para classificar o controle das crises após a cirurgia. Em pacientes com esclerose hipocampal à esquerda, foi realizada a SAH, e na epilepsia do lobo temporal à direita, a ATL foi a abordagem de escolha. Resultados O tempo médio de seguimento após a cirurgia foi de 57,2 meses (12-137). Em nossa avaliação, encontramos que o grupo de pacientes submetidos à ATL apresentou maior prevalência de ausência total de crises (ILAE I) (57,1% versus 31%) e maior taxa de controle satisfatório da epilepsia (88,6% versus 69,3%) p = 0,006, quando comparado ao grupo submetido à SAH. Resultados A literatura ainda é controversa em relação à redução das crises de acordo com a técnica utilizada devido a falta de uma metodologia robusta. Nosso estudo identificou superioridade da ATL sobre a SAH nos desfechos convulsivos. ATL pode ser a melhor opção para controlar adequadamente as convulsões com morbidade adicional mínima em países com limitação de custo para propedêutica estendida.

A clinical evaluation of gelastic and dacrystic seizures: a multicenter study / Uma avaliação clínica das crises gelásticas e dacrísticas: um estudo multicêntrico

Abstract Background Gelastic seizures are extremely rare, short-lasting, unprovoked, and uncontrollable laughing attacks. We conducted this retrospective evaluation to determine whether these symptoms, manifesting in different forms, such as cheerful laughter, laughing, smiling, and sobbing had any value in terms of etiology or localization. Methods A total of 31 patients who exhibited bouts of laughing or crying and who were under follow-up between 2000 and 2019 at tertiary epilepsy centers were included in the study. Laughing seizures were divided into three groups in terms of semiology (i.e., laughter with mirth, laughter without mirth, and smile). Dacrystic seizures were accompanied by some gelastic seizures and were divided into two groups in terms of semiology (i.e., weeping loudly [motor and voice-sobbing] and crying). Results Of the 27 patients with laughing seizures, 12 had seizures that manifested with smiling, 7 had seizures that manifested with laughing and mirth, and 8 had seizures that manifested with laughter without mirth. Dacrystic-gelastic seizures were observed in four patients, among whom 2 patients had crying and laughter without mirth and 2 patients had weeping loudly and laughter without mirth episodes. Conclusion Gelastic and dacrystic seizures often suggest hypothalamic hamartomas, in the literature. This rare ictal behavior can originate from different cortical locations and lesions of a different nature. However, we found that gelastic seizures with smiling were a more homogenous group with regard to location in the temporal lobe, which we aimed to show by evaluating the patients included in this study.

Resumo Antecedentes Crises gelásticas são ataques de riso extremamente raros, de curta duração, não provocados e incontroláveis. Realizamos esta avaliação retrospectiva para determinar se esses sintomas, manifestando-se de diferentes formas, como riso alegre, riso, sorriso e soluço, tinham algum valor em termos de etiologia ou localização. Métodos Foram incluídos no estudo 31 pacientes que apresentavam crises de riso ou choro e que estavam em acompanhamento entre 2000 e 2019 em centros terciários de epilepsia. As crises de riso foram divididas em três grupos em termos de semiologia (ou seja, riso com alegria, riso sem alegria e sorriso). As crises dacrísticas foram acompanhadas por algumas crises gelásticas e foram divididas em dois grupos em termos de semiologia (ou seja, choro alto [motor e soluçar a voz] e choro). Resultados Dos 27 pacientes com crises de riso, 12 tiveram crises que se manifestaram com sorriso, 7 tiveram crises que se manifestaram com riso e alegria e 8 tiveram crises que se manifestaram com riso sem alegria. Crises dácristico-gelásticas foram observadas em quatro pacientes, sendo 2 pacientes com choro e riso sem alegria e 2 pacientes com choro alto e riso sem alegria. Conclusão Crises gelásticas e dacrísticas frequentemente sugerem hamartomas hipotalâmicos, na literatura. Este comportamento ictal raro pode ter origem em diferentes localizações corticais e lesões de natureza diversa. No entanto, verificamos que as crises gelásticas com sorriso foram um grupo mais homogêneo quanto à localização no lobo temporal, o que buscamos evidenciar avaliando os pacientes incluídos neste estudo.

Relationship of white matter hyperintensities with clinical features of seizures in patients with epilepsy / A relação das hiperintensidades da substância branca com as características clínicas das crises em pacientes com epilepsia

ABSTRACT Background: Although epilepsy is primarily known as a cortical disorder, there is growing body of research demonstrating white matter alterations in patients with epilepsy. Objective: To investigate the prevalence of white matter hyperintensities (WMH) and its association with seizure characteristics in patients with epilepsy. Methods: The prevalence of WMH in 94 patients with epilepsy and 41 healthy controls were compared. Within the patient sample, the relationship between the presence of WMH and type of epilepsy, frequency of seizures, duration of disease and the number of antiepileptic medications were investigated. Results: The mean age and sex were not different between patients and healthy controls (p>0.2). WMH was present in 27.7% of patients and in 14.6% of healthy controls. Diagnosis of epilepsy was independently associated with the presence of WMH (ß=3.09, 95%CI 1.06-9.0, p=0.039). Patients with focal epilepsy had higher prevalence of WMH (35.5%) than patients with generalized epilepsy (14.7%). The presence of WMH was associated with older age but not with seizure characteristics. Conclusions: WMH is more common in patients with focal epilepsy than healthy controls. The presence of WMH is associated with older age, but not with seizure characteristics.

RESUMO Antecedentes: Embora a epilepsia seja principalmente conhecida como um distúrbio cortical, há um crescente corpo de pesquisas que demonstra alterações na substância branca em pacientes com epilepsia. Objetivo: Investigar a prevalência de hiperintensidades da substância branca (WMH) e sua associação com características das crises em pacientes com epilepsia. Métodos: A prevalência de WMH em 94 pacientes com epilepsia e 41 controles saudáveis ​​foi comparada. Na amostra de pacientes, foi investigada a relação entre a presença de WMH e o tipo de epilepsia, a frequência das crises, a duração da doença e o número de medicamentos antiepilépticos. Resultados: A média de idade e o sexo não diferiram entre pacientes e controles saudáveis ​​(p>0,2). WMH estava presente em 27,7% dos pacientes, enquanto em 14,6% dos controles saudáveis. O diagnóstico de epilepsia foi independentemente associado à presença de WMH (ß=3,09, IC95% 1,06-9,0, p=0,039). Pacientes com epilepsia focal apresentaram maior prevalência de WMH (35,5%) do que pacientes com epilepsia generalizada (14,7%). A presença de WMH foi associada à idade avançada, mas não a características das crises. Conclusões: Pacientes com epilepsia focal têm WMH mais comum do que controles saudáveis. A presença de WMH está associada à idade avançada, mas não a características das crises epilépticas.

Rasmussen syndrome: a clinicopathologic study of four cases / 中华病理学杂志

Objective@#To investigate the clinicopathologic features of Rasmussen syndrome (RS) and to raise awareness of this rare disease.@*Methods@#Clinicopathologic data of 4 cases of RS were retrospectively analyzed at Beijing Haidian Hospital from 2008 to 2016.@*Results@#The clinical manifestations included epilepsia partialis continua and progressive neurologic deficits in all patients.MRI demonstrated unihemispheric focal cortical atrophy in all cases. The histopathologic changes included variable degrees of lymphocytic infiltrate within the cortex, subarachnoid space and perivascular cuffing.Microglial nodules and neuronophagia were seen. Mild to severe neuronal loss was noted with variable degrees of reactive gliosis. Spongy edema and cavitation were observed in focal cortex. Inflammation involving hippocampus was seen in one case. Three cases were accompanied by focal cortical dysplasia (FCD) Ⅲd. Immunohistochemical staining showed that the infiltrative lymphocytes were positive for CD3, CD8, granzyme B and TIA1 and the proliferating microglial cells were positive for CD68. NeuN positive neurons decreased significantly and reactive astrocytes were GFAP positive.@*Conclusions@#Pathologic changes of RS are similar to viral encephalitis and the inflammation is progressive and multifocal involving the hemisphere. The diagnosis of RS relies on pathologic features combined with clinical findings and neuroradiological examinations.

Neuropathologic study of massive subcortical heterotopia / 中华病理学杂志

Objective@#To investigate the clinicpathologic features and probable mechanisms of massive subcortical heterotopia.@*Methods@#Clinical data, histologic features and neuropathologic data were analyzed in five cases of massive subcortical heterotopia collected from Xuanwu Hospital, Capital Medical University from January 2014 to October 2017.@*Results@#All five patients (three males and two females) had a history of refractory epilepsy with a mean period of 15.4 years (range 7 to 21 years). The median age at surgery was 28.6 years(range 20 to 39 years). Magnetic resonance imaging showed that the lesions were located in the temporal lobe (two cases), parietal lobe (one case), both temporal and occipital lobes (one case) and both temporal and parietal lobes (one case). Pathologic examination disclosed that massive gray matter in subcortical and deep white matter with various shape and size. Moreover, one case also showed subpial and periventricular heterotopias and polymicrogyria. Polymicrogyria or hippocampal sclerosis were seen in the remaining three cases. None of the five patients experienced seizure attacks during the follow-up period.@*Conclusions@#Heterotopia is malformations due to abnormal neuronal migration. Massive subcortical heterotopia due to widespread abnormal neuronal migration is relatively rare. The mechanism of heterotopia together with polymicrogyria needs further discussion.

BRAF V600E mutation and clinicopathologic characteristics in 250 cases of brain tumors associated with epilepsy / 中华病理学杂志

Objective@#To investigate the clinicopathologic characteristics and BRAF V600E mutation of brain tumors associated with epilepsy.@*Methods@#Totally 250 patients with brain tumors associated with epilepsy were included from March 2008 to August 2017 retrospectively at Sanbo Brain Hospital, Capital Medical University.The clinical manifestations, histological features and BRAF V600E mutation results were collected and analyzed.@*Results@#There were 132 males and 118 females, and the male to female ratio was 1.1∶1.0. The age of patients ranged from 2 to 67 years(mean 22 years). The tumors had obvious local space occupying effect on MRI. The temporal lobe was the most common site (44.4%, 111/250). There were 58.4% (146/250) of ganglioglioma (GG), 24.0% (60/250) of dysembryoplastic neuroepithelial tumor (DNT), 12.8% (32/250) of pleomorphic xanthoastrocytoma(PXA), 4.0% (10/250) of angiocentric glioma (AG) and 0.8% (2/250) of papillary glioneuronal tumor (PGNT). Mixed GG, PXA and DNT morphological structures were found in 9 of patients. Among 250 cases, 35 cases were accompanied by focal cortical dysplasia(FCD). BRAF V600E was seen in 43 of 74 (58.1%) GG and 13 of 28 (46.4%) PXA. The most common pathologic grade of GG, DNT, AG and PGNT was WHO I. Some of the tumor cells from GG (34 cases) showed higher proliferative activity (WHO Ⅱ/Ⅲ). Most cases of PXA were WHOⅡand high proliferative activity was seen in nine cases.@*Conclusions@#The association of low-grade glioneuronal tumors with intractable epilepsy was well-recognized. The most common low-grade glioneuronal tumors were GG.GG may occur in any part of the central nervous system, with a predilection for temporal lobe. Each type of low-grade glioneuronal tumors has its own unique histological morphology, but some may show complex features with 2 or 3 mixed components. The occurrence of BRAF V600E mutations in GG is common, and their detection may be valuable for the diagnosis and treatment in GG.

Transtemporal amygdalohippocampectomy: a novel minimally-invasive technique with optimal clinical results and low cost / Amigdalo-hipocampectomia transtemporal: técnica minimamente invasiva com ótimos resultados clínicos e baixo custo

ABSTRACT Mesial temporal sclerosis creates a focal epileptic syndrome that usually requires surgical resection of mesial temporal structures. Objective: To describe a novel operative technique for treatment of temporal lobe epilepsy and its clinical results. Methods: Prospective case-series at a single institution, performed by a single surgeon, from 2006 to 2012. A total of 120 patients were submitted to minimally-invasive keyhole transtemporal amygdalohippocampectomy. Results: Of the patients, 55% were male, and 85% had a right-sided disease. The first 70 surgeries had a mean surgical time of 2.51 hours, and the last 50 surgeries had a mean surgical time of 1.62 hours. There was 3.3% morbidity, and 5% mild temporal muscle atrophy. There was no visual field impairment. On the Engel Outcome Scale at the two-year follow-up, 71% of the patients were Class I, 21% were Class II, and 6% were Class III. Conclusion: This novel technique is feasible and reproducible, with optimal clinical results.

RESUMO A esclerose mesial temporal é uma síndrome epiléptica focal que requer ablação de estruturas mesiais temporais. Objetivo: Descrever e padronizar a técnica operatória e resultados clínicos. Métodos: Série prospectiva de casos de uma única instituição, realizadas por um único cirurgião, de 2006 a 2012. 120 doentes foram submetidos a amigdalo-hipocampectomia transtemporal por acesso mínimo (keyhole). Resultados: 55% eram do sexo masculino, 85% apresentavam doença do lado direito. As primeiras 70 cirurgias tiveram um tempo cirúrgico médio de 2,51 horas, e as últimas 50 cirurgias tiveram um tempo cirúrgico médio de 1,62 horas. Houve morbidade de 3,3%. 5% dos doentes apresentaram atrofia leve de músculo temporal. O controle das convulsões foi avaliado com a Escala de Engel no segundo ano de pós operatorio, 71% eram Classe I, 21% Classe II, 6% Classe III. Conclusão: Esta nova técnica é viável, reprodutível e com resultados clínicos adequados.

Rasmussen's encephalitis: a case report / Encefalitis de Rasmussen: reporte de caso

Rasmussen's encephalitis (RE) is a rare but severe immune-mediated brain disorder leading to unilateral hemispheric atrophy, associated progressive neurological dysfunction with intellectual decline, and intractable seizures. It is a well-established cause of pharmacologically intractable epilepsy. The report is on a 17-month-old infant, treated at the Mario Catarino Rivas Hospital Honduras. Family history: grandfather epileptic secondary trauma from 20 years. Personal history: two previous emergency visits (at 16 months and 16 months 8 days) for convulsions for which she was admitted three days and was treated with valproic acid 30 mg/kg per day. The infant is admitted in the emergency, with a history of about three hours after onset of tonic convulsions, focused on left-side with drooling, oculogiros and relaxation of sphincters and fever of 38.5 ° C. Entered as convulsive syndrome in the study, however, as the days passed the number of seizures increased to 60 per day and was gradually presenting alterations in neurodevelopment. MRI reported leukoencephalopathy of undetermined origin and biopsy reported findings consistent with Rasmussen's syndrome. She was treated with immunoglobulin every two weeks for six doses after two months of hospitalization with achieved improvement. Currently, episodes of seizures have decreased significantly and almost not convulsing, she presented alterations in neurodevelopment.

La encefalitis de Rasmussen (ER)es un trastorno poco frecuente pero grave, mediado inmunológicamente, que afecta al cerebro y conduce a la atrofia hemisférica unilateral, disfunción neurológica progresiva asociada con deterioro intelectual y convulsiones intratables. Lactante de 17meses de edad, atendida en el Hospital Mario Catarino Rivas, Honduras. Con antecedentes familiares: abuelo epiléptico secundario a trauma a partir de los 20 años. Antecedentes personales: dos ingresos previos por cuadros convulsivos por los cuales estuvo ingresada tres días, en tratamiento con ácido valproico 30 mg/kg por día. Es recibida en la emergencia, con historia de aproximadamente tres horas de evolución de convulsiones tónicas, focalizadas en hemicuerpo izquierdo con sialorrea, oculogiros y relajación de esfínteres, febril 38,5 °C. Ingresada como síndrome convulsivo en estudio, sin embargo, al pasar los días incrementó el número de convulsiones hasta 60 diarios y progresivamente fue presentando alteraciones en su neurodesarrollo. La Resonancia Magnética reportó leucoencefalopatia de origen no determinado y la biopsia reportó hallazgos compatibles con Síndrome de Rasmussen. Fue tratada con inmunoglobulina cada quince días por seis dosis y después de dos meses de hospitalización, se logró egresar. Actualmente, los episodios de convulsiones han disminuido considerablemente y casi no convulsiona, presenta alteraciones en su neurodesarrollo.

Benign partial epilepsy of childhood with centrotemporal spikes and sleep disorders / Epilepsia parcial benigna da infância com espícula centrotemporal e transtornos do sono / Epilepsia parcial benigna de la infancia con espícula centrotemporal y trastornos del sueño

Objective: Benign partial epilepsy of childhood with centrotemporal spikes (BECTS) is an idiopathic epilepsy that occurs in healthy children with normal neurodevelopment, characterized by seizures and inter-ictal discharges that predominate during nighttime sleep. This research analyzes the prevalence of sleep disorders in patients with BECTS followed in the Department of Pediatric Neurology at the Pequeno Príncipe Children's Hospital from January 2004 to January 2014. Methods: This study is obser- vational and cross-sectional. The medical records of all children with BECTS followed in the aforementioned institution and period were analyzed, and 46 of these patients met the prerequisites to enter the study. During the investigation all children underwent neuroimaging exams (magnetic resonance or computed tomography) and digital electroencephalogram. In clinical evaluations, all patients and their parents were asked about the presence of sleep disorders. Results: To be classified as having BECTS, patients should have normal neural images and all the electroencephalographies (EEG) should have normal background activity with uni- lateral or bilateral spikes in centrotemporal or centrotemporal and parietal regions. All were being treated with antiepileptic drugs. The age of onset of seizures ranged from 62 to 145 months (mean 94.37 ± 21.2 months). Data showed that 33 (71.74%) out of 46 patients had experienced some kind of sleep disorder: insomnia (18 patients/39.13%), nocturnal enuresis (6 patients/13.04%), somnambulism (2 patients/4.35%), night terrors (1 patient/2.17%), nocturnal enuresis and night terrors (2 patients/4.35%), night terrors and somnambulism (2 patients/4.35%), insomnia and nocturnal enuresis (1 patient/2.17%) and insomnia, night terrors and somnambulism (1 patient/2.17%). Conclusions: Most children diagnosed with BECTS in our pediatric neurology service presented with comorbid sleep disorder. The results are consistent with the data collected in the literature, which show that sleep disorders are more common in children with this type of epilepsy than in those neurologically healthy.

Objetivo: A epilepsia parcial benigna da infância com espículas centrotemporais (EPCT) é uma epilepsia idiopática que ocorre em crianças saudáveis com neurodesenvolvimento normal, que se caracteriza por convulsões e descargas interictais que predominam durante o sono noturno. Esta pesquisa analisa a prevalência de transtornos do sono em pacientes com EPCT acompanhados no Departamento de Neurologia Pediátrica do Hospital Infantil Pequeno Príncipe de janeiro de 2004 a janeiro de 2014. Métodos: Este estudo é observacional e transversal. O prontuário clínico de todas as crianças com EPCT acompanhadas na instituição e no período acima mencionados foi analisado e 46 desses pacientes satisfizeram os pré-requisitos para entrar no estudo. Durante a investigação, todas as crianças foram submetidas a exames de neuroimagem (ressonância magnética ou tomografia computadorizada) e a eletroencefalograma digital. Durante as avaliações clínicas, todos os pacientes e seus pais foram perguntados sobre a presença de transtornos do sono. Resultados: Para serem classificados como portadores de EPCT, os pacientes deviam ter imagens neurais normais e todas as eletroencefalografias (EEG) deviam apresentar atividade de fundo normal, com espículas unilaterais ou bilaterais nas regiões centrotemporal ou centrotemporal e parietal. Todos estavam sendo tratados com medicação antiepiléptica. A idade de início das convulsões variou dos 62 aos 145 meses (média 94,37 ± 21,2 meses). Os dados mostraram que 33 (71,74%) dos 46 pacientes tinham algum tipo de transtorno do sono: insônia (18 pacientes/39,13%), enurese noturna (6 pacientes/13,04%), sonambulismo (2 pacientes/4,35%), terrores noturnos (1 paciente/2,17%), enurese noturna e terrores noturnos (2 pacientes/4,35%), terrores noturnos e sonambulismo (2 pacientes/4,35%), insônia e enurese noturna (1 paciente/2,17%) e insônia, terrores noturnos e sonambulismo (1 paciente/2,17%). Conclusões: A maioria das crianças com diagnóstico de EPCT em nosso serviço de neurologia pediátrica apresentou-se com transtornos do sono comórbidos. Os resultados são compatíveis com os dados coletados na literatura, que mostram que os transtornos do sono são mais comuns em crianças com esse tipo de epilepsia do que nas neurologicamente saudáveis.

Objetivo: La epilepsia parcial benigna de la infancia con espículas centrotemporales (EPCT) es una epilepsia idiopática que ocurre en niños saludables con neurodesarrollo normal, que se caracteriza por convulsiones y descargas interictales que predominan durante el sueño nocturno. Esta investigación analiza la prevalencia de trastornos del sueño en pacientes con BECTS acompañados en el Departamento de Neurología Pediátrica del Hospital Pequeno Príncipe desde enero de 2004 a enero de 2014. Métodos: Este estudio es observacional y transversal. El prontuario clínico de todos los niños con EPCT acompañados en la institución y en el período arriba mencionado fue analizado y 46 de esos pacientes cumplieron con los prerrequisitos para entrar en el estudio. Durante la investigación, todos los niños fueron sometidos a exámenes de neuroimagen (resonancia magnética o tomografía computada) y a electroencefalograma digital. Durante las evaluaciones clínicas, todos los pacientes y sus padres fueron preguntados sobre la presencia de trastornos del sueño. Resultados: Para ser clasificados como portadores de EPCT, los pacientes debían tener imágenes neurales normales y todas las electroencefalografías (EEG) debían presentar actividade de fondo normal, con espículas unilaterales o bilaterales en las regiones centrotemporal o centrotemporal y parietal. Todos estaban siendo tratados con medicación antiepiléptica. La edad de inicio de las convulsiones varió de los 62 a los 145 meses (promedio de 94,37 ± 21,2 meses). Los datos mostraron que 33 (71,74%) de los 46 pacientes tenían algún tipo de trastorno del sueño: insomnia (18 pacientes/39,13%), enuresis nocturna (6 pacientes/13,04%), sonambulismo (2 pacientes/4,35%), terrores nocturnos (1 paciente/2,17%), enuresis nocturna y terrores nocturnos (2 pacientes/4,35%), terrores nocturnos y sonambulismo (2 pacientes/4,35%), insomnia y enuresis nocturna (1 paciente/2,17%) e insomnia, terrores nocturnos y sonambulismo (1 paciente/2,17%). Conclusiones: La mayoría de los niños con diagnóstico de EPCT en nuestro servicio de neurología pediátrica se presentó con trastornos del sueño comórbidos. Los resultados son compatibles con los datos colectados en la literatura, que muestran que los trastornos del sueño son más comunes en niños con ese tipo de epilepsia que en los neurológicamente saludables.

The long-term efficacy study of surgical treatment of partial seizures with children / 重庆医学

Objective To investigate the long‐term effect of surgical treatment of partial seizures in children .Methods The au‐thor was studying in the University of Stellenbosch ,Tygerberg Children′s Hospital .The clinical data of 158 children with partial seizures selected from June 2005 to June 2008 were retrospective analyzed .The postoperative quality of life ,improvement of IQ and the situation of seizure control ,and affect long‐term efficacy of surgery‐related factors were analyzed .Results The patients were followed up for 5 years .The control rate of seizures of 1 ,3 ,5 years were 100 .00% ,94 .85% ,94 .35% ,MRI findings and the course were control independent risk factors affecting the rate of seizure .The rates of IQ improvement of 1 ,3 ,5 years were 89 .87% , 89 .71% ,88 .71% ,of which preoperative IQ ,disease duration ,age at surgery in children were independent risk factors affecting IQ improvement .life .Quality improvement rate of 1 ,3 ,5 years were 93 .04% ,91 .18% ,90 .32% ,and IQ preoperative ,operative ap‐proach were independent risk factors affecting the quality of life postoperatively .Conclusion The surgery operating as soon as pos‐sible could be better for children to improve the range of lesions ,and also could effectively control seizures ,improving the level of intelligence in children and the quality of life postoperatively .

Expressão hipocampal de genes envolvidos em vias de apoptose em pacientes com epilepsia do lobo temporal / Hippocampal expression of genes in apoptotic pathways in temporal lobe epilepsy patients

A epilepsia do lobo temporal associada à esclerose hipocampal [ELT(EH)] é o tipo mais comum de epilepsia focal que causa crises refratárias. A morte neuronal na EH pode ser desencadeada por danos excitotóxicos e citocinas específicas. Pesquisas em modelos experimentais de crises convulsivas ressaltaram a citocina pleiotrópica fator de necrose tumoral (TNF) como um importante efetor/mediador de neuroinflamação e morte celular. Além disso, esses modelos sugeriram que o TNF possa ter uma ação dicotômica por meio de seus dois receptores: ativação da morte celular programada (via TNFRSF1A) ou atuação na sobrevivência celular (via TNFRSF1B), através do fator nuclear kappa B (NFkB). Klotho (KL), originalmente identificada como uma proteína antienvelhecimento, tem se destacado como um importante hormônio regulador de cálcio e fósforo. Sua função cerebral é desconhecida; porém, camundongos knockout para Kl apresentam características que remetem ao envelhecimento humano, com neurodegeneração e redução de sinapses no hipocampo. Em modelos de doença renal crônica e colite, foi comprovado que o TNF inibe KL através do NFkB. Nosso objetivo é identificar alvos críticos na epileptogênese e na fisiopatologia molecular da ELT(EH). Avaliamos a expressão relativa do RNAm de cinco genes-alvo: TNF, TNFRSF1A, TNFRSF1B, NFKB1 e KL. A expressão gênica foi avaliada em amostras de tecido hipocampal de 14 pacientes com ELT(EH) e comparadas com cinco amostras de controles post mortem. Além disso, ambos os receptores do TNF foram analisados nas amostras hipocampais por imuno-histoquímica. Todos os cinco genes avaliados apresentaram expressão significantemente alterada nos pacientes com ELT(EH) (P<0,05). A expressão de ambos os receptores foi constatada nos tecidos dos pacientes. Este é o primeiro estudo a relacionar KL e epilepsia. Nossos dados reforçam o componente inflamatório da EH e sugerem que o TNF possa inibir a expressão de KL no hipocampo dos pacientes.

Temporal lobe epilepsy associated with hippocampal sclerosis [TLE(HS)] is the most common form of focal epilepsy that causes refractory seizures. Neuronal death in HS can be triggered by excitotoxic damage and specific cytokines. Previous research in seizure models indicates that the pleiotropic cytokine tumor necrosis factor (TNF) as an important effector/mediator of neuroinflammation and cell death. Through its two receptors, TNF can play a dichotomous role in animal seizures: programmed cell death activation (via TNFRSF1A) or cell survival actuation (via TNFRSF1B), through the nuclear factor kappa B (NFkB) activation. Klotho (KL), originally identified as an antiaging protein, is emerging as an important calciophosphoregulatory hormone. Its cerebral function is unclear; however, the Kl knockout mouse exhibits a phenotype resembling human aging presenting neural degeneration and a reduction of synapses in the hippocampus. Studies have demonstrated that TNF downregulates KL through NFkB in animal models of chronic kidney disease and colitis. Our aim is to identify critical targets in epileptogenesis to clarify the molecular pathophysiology in TLE(HS). We evaluated the relative mRNA expression of five target genes: TNF, TNFRSF1A, TNFRSF1B, NFKB1 and KL. Gene expression was performed in resected hippocampal tissue samples from 14 TLE(HS) patients and compared to five post mortem controls. Moreover, an immunohistochemistry assay was done to verify the activation of both TNF receptors in patient and control tissues. We found that all target genes were differentially regulated in the TLE(HS) patients (P<0.05). Both TNF receptors were clearly activated in patient's tissues. This is the first study relating KL to epilepsy. Our data corroborates the prominent role of inflammation in HS and suggests that TNF might affect KL expression in hippocampus.

Crisis gelásticas originadas en lóbulo temporal / Gelastic seizures originating in the temporal lobe

Las crisis gelásticas son una forma rara de epilepsia no convulsiva, más frecuente en población adulta joven y casi exclusiva de hamartomas hipotalámicos; sin embargo, hay otras localizaciones no hipotalámicas poco descritas en las cuales se presentan estas crisis, como el lóbulo temporal. El caso que presentamos muestra una manifestación atípica: un paciente de edad avanzada consultó por cambios en el comportamiento y risas inmotivadas; durante la hospitalización, se estableció la presencia de crisis gelásticas, las cuales fueron atribuidas a zona de gliosis temporal izquierda por antecedente de hematoma epidural en esta localización. Se concluye que este tipo de crisis epiléptica en población de la tercera edad es el resultado de etiologías distintas al hamartoma hipotalámico.

Gelastic seizures are a rare form of non-convulsive seizures, more common in young adults and almost exclusively of endocrine disorders and hypothalamic hamartomas, there another other places for this seizures as the temporal lobe. The case shows an atypical manifestation, an elderly patient who consults for changes in behavior and unmotivated laughter; during hospitalization, showed the presence of gelastic seizures, which were attributed to the left temporal area of gliosis by previous epidural hematoma at this location, we present clinical history, neuroimaging and EEG. In the conclusion on elderly, this type of seizure occurs by different etiologies and no only by hypothalamic hamartoma.

Clinical observation of oxcarbazepine suspension monotherapy for 2 to 4-year-old patients newly diagnosed as partial epilepsy / 中华神经科杂志

Objective To investigate the efficacy and safety of oxcarbazepine (OXC) suspension for treating the 2 to 4 years old patients newly diagnosed as partial epilepsy.Methods A total of 62 patients between 2 to 4 years old diagnosed as partial epilepsy,selected from the outpatients of the pediatric neurology in the hospital from October 2009 to March 2011,were randomly divided into the experimental group of 32 patients and the control group of 30 patients.Experimental group:OXC suspension,the initial dose was 8-10 mg· kg-1 d-1,orally taking 2 times every day,increasing the dose by 10 mg · kg-1 d 1 once every 7 days to the complete control of the seizure,the target dose was 20-40 mg· kg-1 · d-1 Control group:oral administration of carbamazepine (CBZ) group,the initial dose was 5 mg· kg 1 · d-1,increasing the dose once every 5-7 days up to 10-15 mg · kg-1 · d-1,if necessary,the dose could be 20 mg · kg 1 d-1 to maintain.The observation period was 26 weeks.Results The rate of valid cases in OXC group after 13 weeks and 26 weeks were both 78.1％ (25/32),and the rate of non-attack cases were 53.l％ (17/32) and 50.0％ (16/32),respectively; the rate of valid cases in CBZ group after 13 weeks and 26 weeks were 76.7％ (23/30) and 70.0％ (21/30),respectively,and the rate of non-attack cases were 50.0％ (15/30) and 40.0％ (12/30) (x2 =0.022,0.004 ; P =0.883,0.947 respectively.).In the 26th week,the quit rate of OXC group was 6.2％,while the quit rate of CBZ group was 13.4％.The rates of adverse reactions of OXC and CBZ were 15.6％ and 26.7％,respectively,with no significant difference.Conclusion OXC suspension monotherapy for 2 to 4 years old patients with partial epilepsy was significant effective,and no significant difference when compared with carbamazepine group.The rate of the adverse reactions in the OXC group was relatively fewer,and the extent was slight.

Lateralizing language area and assessing hemispheric memory function by intracarotid injecting propofol / 中华神经科杂志

Objective In the context of worldwide shortage of amytal,explore the intracarotidpropofol test for lateralizing language area and assessing hemispheric memory function.Methods Fourteen patients with refractory partial epilepsy who were candidates for surgical intervention were included in the study.With guide under a digital subtraction angiography,propofol was injected in bilateral intracarotidsequentially.Muscle power deceasing to level 0 at the contralateral limb and eyes gazing to contralateral side were used as the mark of hemispheric anesthesia completely.The immediate language alterations were recorded.To evaluate the bilateral language and memory functions,the visual and auditory memory tasks were performed sequentially once patient could concentrate his attention ; and after limb muscle power recovering to normal level,patients were required to perform a free recall test.Any abnormal responses were recorded.Results Language dominant hemisphere was determined in 14 patients.Nine patients were confirmed as left language dominance,2 patients were right language dominance.The remained 3 patients were considered as bilateral language dominance.Meanwhile,the hemispheric memory function was able be evaluated in 13 patients.More than 67％ memory function was sustained in hemisphere contralateral to mesial temporal lesions.Transient responses including eye pain,facial muscle spasms,laughers and involuntary movements were observed.Conclusion Hemispheric language and memory functions can be assessed with direct intracarotidpropofol injection,and propofol could be an alternative drug to amobarbital used in the Wada test.

Changes in default mode network functional connectivity of resting-state functional magnetic resonance imaging in partial epilepsy / 中华神经科杂志

Objective To explore changes of brain function among patients with partial epilepsy in resting state by using the blood oxygenation level dependent functional magnetic resonance imaging (fMRI) techniques.Methods fMRI scanning was performed in resting state among 60 patients with partial epilepsy and 60 gender,age and educational levels matched normal controls.The functional connectivity analysis was applied to calculate the default mode network ( DMN ) functional connectivity in resting-state fMRI.SPM5 was used to analyze differences in functional connectivity between the two groups( P ＜0.001,cluster ＞50).Results Left precuneus and adjacent posterior cingulate cortex ( Pcu/PCC),angular gyrus,and cingulate gyrus were involved in the DMN of epileptic patients.By contrast,the DMN of controls included left Pcu/PCC,right angular gyrus,bilateral medial frontal lobe and temporal lobe.Compared with normal controls,patients with partial epilepsy showed a significantly decrease in functional connectivity of DMN region such as left inferior parietal lobule,supramarginal gyrus,parahippocampa gyrus and superior temporal gyrus,and bilateral uncus,while no regions were found increased functional connectivity in patients group.Conclusions Patients with partial epilepsy show abnormal changes in functional connectivity of DMN in resting state by fMR],which may associate with the potential pathophysiological mechanisms of epilepsy.The findings demonstrate that the resting-state fMRI might detect the extensive changes of brain function in partial epilepsy with negative results of conventional MRI,suggestive of fMRI as an effective and non-invasive method to explore brain function in epilepsy.

The clinical efficacy and adverse effects of levetiracetam treatment in the middle and old aged patients with partial seizures / 中华老年医学杂志

Objective To analyse the effective rate and adverse effect of only levetiracetam (LEV) versus LEV plus other drugs in the treatment of middle and old aged patients with partial seizures (PS) and secondary generalized tonic-clonic seizure (SGTCS).Methods The self-control study was used and 59 elderly patients with PS and SGTCS were treated with LEV single or plus drug (therapeutic dose was 1000-2000 mg/d,bid).The effective rate and the side effects of LEV were observed and compared between LEV single and plus drug or between the patients with only epilepsy versus epilepsy plus other diseases,respectively.Results The effective ratios at the end of 3,6,9and 12 months after LEV treatment were 76.2％,70.6％,64.3％ and 66.7％,respectively and there were no significant difference among above time points (x2=1.911,P＞0.05).A chi-square test showed that the differences in effective ratios were not statistically significant (P＞ 0.05) between single and combination of drugs (x2 =1.437) and between two groups of patients at the end of 12 months.Clinical effect of LEV showed no remarkable difference between different types of epilepsy at the end of 6 months (x2 =1.315,P＞0.05)and 12 months(x2 =2.700,P＞0.05).The control ratio of epileptic attack was higher in single LEV than in combination drugs (x2 =10.83,P＜0.05).The total side effects were 13.6％,including somnolence,weakness,anorexia,headache,irritability and forgetfulness.Conclusions The curative effects of levetiracetam single or in combination are definite,stable and continuous for PS and SGTCS,especially in combination with other diseases.

A randomized,double-blind,placebo-controlled,multicenter study to evaluate the efficacy and safety of zonisamide as adjunctive treatment in patients with refractory partial seizures / 中华神经科杂志

Objective To evaluate the safety and efficacy of Zonisamide(ZNS) as adjunctive therapy in patients with refractory partial seizures receiving other antiepileptic drags (AEDs).Methods This was a randomized,double-blind,placebo-controlled study conducted at multi-centers.All 240 subjects were randomized to either the ZNS group or the placebo group in a 1:1 ratio.The double-blind treatment phase included a titration phase during which zonisamide dose inereased from 100 mg/day to 300 mg/day over 4 weeks and then a 12-week fixed-dose phase.The primary efficacy endpoint was,the median % reduction from baseline in all pattial seizure frequency(CPS+SPS+SGS)during the fixed-dose phase.The important secondaw endpoint wag the responder rate.Safety profiles and tolerance were also evaluated.Results The FAS analysis showed the median reduction from baseline in the ZNS group was greater than in the placebo group(48.4%vs 26.6%),the difference was significant for ZNS compared with placebo(F=4.904,P=0.028);The responder rates for all partial seizures(48.6%vs34.9%,X2=4.046,P=0.044)and for complex seizures(52.2% vs 33.3%,X2=5.607,P=0.018)were significantly higber in the ZNS group than in the placebo group in the FAS population.The overall adverse events(AEs)profile was comparable between the two groups.The most frequent AEs considered to be related to zonisamide by the investigator were headache,dizziness,somnolence,anorexia,nausea,etc.Conclusions ZNS is superior to placebo in reducing the frequency of partial seizures and well-tolerated.ZNS could be a choice of adjunctive therapy in patients with refractory partial seizures.

Multicenter randomized, double-blind, placebo-controlled trial of zonisamide as add-on therapy in patients with refractor partial seizures / 中华神经科杂志

Objective To evaluate the efficacy and tolerability of zonisamide (ZNS) as add-on therapy in patients with refractory partial seizures.Methods In this Chinese muiticenter, double-blind, randomized, placebo-contrclled trial, ZNS was compared with placebo add-on therapy in 217 patients (intent-to treat (ITT) population) with uncontrolled partial-onset seizures.All patients entered a 3-month baseline period followed by a 4-week titration interval and a 12-week maintenance period.The starting dose of ZNS group was 100 mg/d, increased by 100 mg/d every week and reached the goal of 400 mg/d.The main outcome was measured by the median of the percentage of decreased seizure frequency.The secondary ouwomes points included the percentage of patients who had seizure attacks decreased by more than 50%,and adverse events.Results The median of the percentage of decreased seizure frequency in ZNS group was 33.33%, and the placebo group was 0.Thirty-eight patients (34.23%) experienced more than 50% reduction in the seizure frequency in ZNS group, compared with 19.81% of patients (21 cases) in the placebo group (χ2 =5.7159,P =0.0168) ; Moreover, 13 (11.71%) patients in ZNS group and 5 patients in placebo group were seizure free, 25 patients in ZNS group and 16 patients in placebo group who had seizure attacks decreased by more than 50%.The availability rate in ZNS group was higher than placebo group (34.23% vs 19.81%, U=2.4701, P=0.0135).The most common adverse events in ZNS group were drowsiness, fatigue, decreased appetite, gastrointestinal complaints, insomnia and constipation.Conclusion Zonisamide treatment was generally well tolerated and was associated with significant reductions in seizure frequency as adjunctive treatment for partial-onset seizures.

Mosaic SCN1A mutation in a family with partial epilepsy with febrile seizures plus / 中华神经科杂志

Objective To study the SCN1A gene in a family with partial epilepsy with febrile seizures plus ( PEFS+ ) and its characteristics of inheritance. Methods The clinical features of the 2 patients and their father were summarized. All 26 exons of SCN1A gene were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was pedormed on those with abnormal elution peak. Pyrosequencing was subsequently performed in those without abnormality in direct sequence analysis. Results The proband and his sister had the phenotype of PEFS+ . The same heterozygous mutations (AS768G) on exon 26 which caused the related amino acid change (Q1923R) were found among them. Their father had frequent febrile seizures (FS) in childhood, and seizures stopped spontaneously. No abnormality was found in direct sequence but mosaic mutation in the same site was discovered with pyrosequencing (mutation quantity was 25% ). Conclusions The mutatin of SCN1A could cause partial epilepsy. PEFS+ could be inherited, the relatives carrying the affected gene may have mild clinical symptoms, possibly resulting from the low concentration of the mutated gene due to mosaic mutation.

A group of children with special benign partial epilepsy:study of clinical features and pathophysiology / 中华神经科杂志

Objective To investigate clinical features and the pathophysiology of 43 children with atypical idiopathic partial epilepsies of childhood(IPEC)that is unclassified according to the International League Against Epilepsy classification.Methods All the children with partial epilepsy of childhood in out hospital were followed up,including those age-related cases with benign process and excluding those with benign epilepsy of childhood with centro-temporal EEG foci,Panayiotopoulos type and Gastaut type.We reviewed their EEGs,seizures and therapeutic data to analyze the semiologieal characters and the interietal activities during they were awake and sleeping.Results The average age of onset of epilepsy was 8.84years old.Frontal absences(43.2%),adversive seizures(47.7%)were more common.Everyday seizures occurred in 38.6%of patients and monthly seizures in 56.8%of patients.Atypical focal(43.2%),multifocal(27.3%),and generalized spike and waves(29.5%),were more predominant in frontal location when they were awake.During sleep,sharp waves generalized or the amplitude increased.At the last follow-up,88.6%of patients were in complete clinical remission and EEG in 22.7%of cases was normal.Among them 2 patients had stopped taking antiepileptic drugs(AEDs)and 6 patients were reducing the doses of AEDs.EEG Was abnormal only in sleep or decreased synchronization.The patients were more responsive to earbamazepine combined with sodium valproate(P<0.01).Conclusion Special partial epileptic syndrome is age-related,having excellent prognosis,which might origin from the frontal lobe.