Autoinmunidad, convulsiones y epilepsia: breve revisión sistemática / Autoimmunity, seizures and epilepsy: a brief systematic review

INTRODUCCIÓN: La epilepsia es un desorden neurológico crónico caracterizado por crisis convulsivas recurrentes, y constituye uno de los trastornos neurológicos con mayor prevalencia global. Una de las etiologías que ha cobrado mayor relevancia en el último tiempo es la autoinmunidad, la que ha venido a dar explicación a muchos casos de epilepsia idiopática o refractaria a tratamientos convencionales. MÉTODOS: Se realizó una búsqueda avanzada asociada a filtros en la plataforma PubMed con los términos "epilepsy" y "autoimmunity". Se seleccionaron 17 artículos de un total de 98 publicados desde el año 2010 en adelante, y que aportaban mas datos desde la fisiopatología. RESULTADOS: En base a la literatura, se describen los principales mecanismos de autoinmunidad que generan epilepsia entre los destacan generación de auto-anticuerpos, desregulación del perfil de citoquinas y pérdida del control de linfocitos T autorreactivos, fenómenos que redundan en neuroinflamación y que se originan en el contexto de infecciones, síndromes paraneoplásicos, autoinmunidad materna transferida a hijos, encefalitis autoinmune, entre otras. CONCLUSIONES: En los últimos años ha habido grandes avances en la comprensión de la epilepsia autoinmune, sin embargo, aún queda mucho por comprender. Pese a lo prometedor que es el descubrimiento de anticuerpos, existen muchos casos de epilepsia con seronegatividad, o casos con la presencia de anticuerpos, pero no la epilepsia autoinmune. Cabe destacar que se debe precisar mecanismos diagnósticos eficaces y específicos que permitan generar protocolos terapéuticos atingentes y resolutivos.

Epilepsy is a neurological chronic disorder which is characterized by recurrent seizures and constitutes one of the most prevalent neurological disorders worldwide. One of the etiologies that has gained a lot of strength is autoimmunity, which has explained a lot of cases of idiopathic epilepsy or epilepsies refractory to common treatment. METHODS: An advanced search was made in the PubMed platform using filters with the terms "epilepsy" and "autoimmunity", showing 98 publications from 2010 onwards, leaving only 17 selected articles because of their pathophysiological information. RESULTS: Based on the literature, we described the main mechanisms of autoimmunity as a cause of epilepsy, standing out the ones related to auto-antibodies production, cytokines disregulation and autoreactive T lymphocytes control alteration, phenomenons related to neuroinflammation that arise from the context of infections, paraneoplastic syndromes, maternal autoimmunity transmitted to their babies, autoimmune encephalitis, etc. CONCLUSIONS: Great advances has been made on the understanding of autoimmune epilepsy in the last years, but despite this there's a lot that we need to comprehend. Although how promising was the discovery of antibodies there's still a lot of seronegative cases or cases with antibodies but without the epilepsy. It is worth mentioning that it becomes necessary to establish efficient and specific diagnostic mechanisms that allow us to create suitable and resolutive therapeutic protocols.

Encefalitis límbica: clínica, patogenia y problemas diagnósticos / Limbic encephalitis: clinic, pathogenesis and diagnostic problems

La encefalitis límbica es una enfermedad infrecuente y potencialmente grave, que puede o no ser paraneoplásica y se caracteriza por déficit de la memoria reciente, alteraciones psiquiátricas y convulsiones. De origen autoinmunitario, está asociada a anticuerpos séricos e intratecales contra antígenos neuronales intracelulares y de superficie, con especial afectación de zonas límbicas. En este artículo se revisan aspectos históricos y epidemiológicos, patogenia, síndromes más frecuentes y mejor delimitados, histopatología y estudios complementarios. Se repasan también las dificultades del diagnóstico diferencial y la necesidad de descartar siempre un tumor subyacente. La detección de autoanticuerpos neuronales es importante para el diagnóstico, la planificación terapéutica y el pronóstico. La inmunoterapia y, si corresponde, el tratamiento de la neoplasia son cruciales para lograr una recuperación neurológica sustancial. La encefalitis límbica es una entidad probablemente subdiagnosticada, con un pronóstico más favorable si se trata de forma temprana. El actual conocimiento de su patogenia puede además aportar claridad para la mejor comprensión de otros síndromes neurológicos y psiquiátricos que puedan compartir mecanismos autoinmunitarios, como algunos trastornos psicóticos y epilepsias farmacorresistentes. (AU)

Limbic encephalitis is a rare and potentially serious disease, which may or may not be paraneoplastic and is characterized by recent memory deficits, psychiatric disturbances and seizures. Of autoimmune origin, it is associated with serum and intrathecal antibodies against intracellular and surface neuronal antigens, with special involvement of limbic areas. This article reviews historical and epidemiological aspects, pathogenesis, more frequent and better defined syndromes, histopathology and complementary studies. The difficulties of differential diagnosis and the need to always rule out an underlying tumor are also reviewed. Detection of neuronal autoantibodies is important for diagnosis, therapeutic planning and prognosis. Immunotherapy and, if appropriate, neoplasm treatment, are crucial to achieve substantial neurological recovery. Limbic encephalitis is probably an underdiagnosed entity, with a more favorable prognosis if treated early. The current knowledge of its pathogenesis may also provide clarity for a better understanding of other neurological and psychiatric syndromes that may share autoimmune mechanisms, such as some psychotic disorders and drug-resistant epilepsies. (AU)

Progress in Research on Biomarkers of Post-Traumatic Epilepsy / 法医学杂志

Post traumatic epilepsy （PTE） is a serious complication of traumatic brain injury and a difficult problem in forensic justice practice. In recent years, many biomarkers have been applied to the diagnosis, treatment and prognosis of injuries and diseases. There have been many studies on the biomarkers of PTE in the field of epilepsy. This paper reviews the progress in research on biomarkers of PTE in recent years in order to provide reference for the forensic identification of PTE.

Inflammatory signs and epileptic crisis in patients admitted in an emergency unit / Signos inflamatorios y crisis epiléptica en pacientes admitidos en una unidad de emergencia / Sinais inflamatórios e crise epiléptica em pacientes admitidos em unidade de emergência

ABSTRACT Objective: To evaluate inflammatory signs presented in medical records of patients with a main diagnosis of epileptic seizures, admitted in an emergency unit. Method: Cross-sectional and retrospective study. The sample was composed of 191 medical records, from children, adolescents, adults, and elders, with a clinical diagnosis of epileptic seizures, admitted between June 2016 and June 2017 at the emergency unit of a hospital in Porto Alegre/RS. Results: The prevalent inflammatory signs were tachypnea (33.5%) and/or fever (27.2%) associated with leukocytosis (P=0.030). Children/adolescents had seizures less frequently (P=0.010) and these were due to fever (P=0.000). Adults presented seizures more frequently (P=0.006), which were related to medication/intoxication (P=0.000). In elders, seizures occurred due to metabolic or circulatory abnormalities (P=0.000), less often due to fever (P=0.005). Conclusion: Seizures are related to fever and tachypnea, being caused by different etiologies according to age, being more frequent in adults. Fever is related to leukocytosis, regardless of age.

RESUMEN Objetivo: Evaluar signos inflamatorios registrados en prontuarios de pacientes con diagnóstico principal de crisis epilépticas, admitidos en unidad de emergencia. Método: Estudio transversal, retrospectivo. Muestra compuesta por 191 prontuarios de pacientes pediátricos, adolescentes, adultos y ancianos, diagnosticados con crisis epilépticas, admitidos entre junio de 2016 a junio de 2017 en unidad de emergencia de un hospital de Porto Alegre/RS. Resultados: Prevalencia del taquipnea (33,5%) y/o fiebre (27,2%) como signos inflamatorios, fiebre relacionada a leucocitosis (P=0,030). Niños/adolescentes tienen crisis menos frecuentes (P=0,010) de origen febril (P=0,000). Los adultos presentaron mayor número de eventos (P=0,006), provocados por medicamentos/intoxicaciones (P=0,000). En ancianos, crisis ocurrieron debido a disturbios metabólicos/circulatorios (P=0,000),menor ocurrencia de fiebre (P=0,005). Conclusión: Crisis epilépticas están relacionadas a fiebre y taquipnea, presentando diferentes etiologías según grupo de edad, con mayor ocurrencia entre adultos. Fiebre relacionada con el leucocitosis, independientemente de la edad.

RESUMO Objetivo: Avaliar os sinais inflamatórios registrados em prontuários de pacientes com diagnóstico principal de crise epiléptica, admitidos em unidade de emergência. Método: Estudo transversal, retrospectivo. Amostra composta por 191 prontuários de pacientes pediátricos, adolescentes, adultos e idosos, com diagnóstico clínico de crise epiléptica, admitidos entre junho de 2016 a junho de 2017, na unidade de emergência de um hospital de Porto Alegre/RS. Resultados: Prevalência do relato de taquipneia (33,5%) e/ou febre (27,2%) como sinais inflamatórios, estando febre relacionada à leucocitose (P=0,030). Crianças/adolescentes tiverem crises menos frequentes (P=0,010) ede origem febril (P=0,000). Adultos apresentaram maior número de eventos (P=0,006), provocados por medicações/intoxicações (P=0,000). Nos idosos, crises ocorreram por distúrbios metabólicos/circulatórios (P=0,000), com menor ocorrência de febre (P=0,005). Conclusão: Crises epilépticas estão relacionadas à presença de febre e taquipneia, apresentando diferentes etiologias conforme faixa etária, com maior frequência de ocorrência entre adultos. Febre está relacionada à leucocitose, independentemente da idade.

Epilepsias en las malformaciones del desarrollo cortical / Malformations of cortical development and epilepsy

Alrededor del 15% de las epilepsias en pediatría son fármaco-resistentes y en el 40% de este grupo la etiología es una malformación del desarrollo cortical (MDC). El esquema de clasificación actual de las MDC se basa en las etapas primarias de desarrollo de la proliferación celular, migración neuronal y organización cortical. Teniendo en cuenta la clínica y las alteraciones moleculares, se propuso una clasificación basada en la disrupción de las vías principales y el fenotipo neurorradiológico. Se dividió a las MDC en cuatro grupos: la megalencefalia y las displasias corticales focales; las tubulinopatías y lisencefalias; el espectro de las polimicrogirias y las heterotopías. Hasta el momento, más de 100 genes han sido asociados con uno o más tipos de MDC. Los mecanismos biológicos y genéticos incluyen la regulación del ciclo celular en varios estadios, división celular), apoptosis, diferenciación celular, función y estructura del citoesqueleto, migración neuronal y membrana basal. El espectro de síndromes epilépticos asociados con las MDC es amplio e incluye desde encefalopatías epilépticas de comienzo temprano a epilepsias focales de debut más tardío. Teniendo en cuenta que la evolución de la epilepsia hacia la refractariedad en las MDC es importante, el diagnóstico precoz y la elección de la mejor opción terapéutica influirán en el pronóstico de los pacientes.

Around 15% of childhood epilepsies are resistant to antiepileptic drugs, 40% of which are caused by malformations of cortical development (MCD). The current classification scheme for MCD is based on the primary developmental steps of cell proliferation, neuronal migration, and cortical organization. Considering the clinic and molecular alterations, a classification based on main pathways disruption and imaging phenotype has been proposed. MCD were divided into four groups: megalencephaly and focal cerebral dysplasia; tubulinopathies and lissencephalies; polymicrogyria syndromes and heterotopia syndromes. More than 100 genes have been reported to be associated with different types of MCD. Genetic and biological mechanisms include different stages of cell cycle regulation - especially cell division -, apoptosis, cell-fate specification, cytoskeletal structure and function, neuronal migration, and basement-membrane function. The associated epileptic syndromes are varied ranging from early-onset epileptic encephalopathies to focal epilepsies. As MCD are common causes of refractory epilepsy, a prompt diagnosis and the development of different therapeutic options in order to improve the outcome of the patients are essential.

Epilepsias de origen metabólico en el neonato / Epilepsias de origen metabólico en el neonato

Las enfermedades neurometabólicas que manifiestan convulsiones y epilepsia constituyen un amplio grupo de trastornos hereditarios. Se pueden presentar a cualquier edad desde el período neonatal hasta la adolescencia. Las manifestaciones epilépticas pueden ser muy variadas y, en general, se trata de epilepsias refractarias a los fármacos antiepilépticos. La fenomenología epiléptica no contribuye al diagnóstico. Se deben conocer los errores innatos del metabolismo que responden al empleo de cofactores. En descompensaciones agudas es fundamental dar soporte nutricional, hidroelectrolítico y respiratorio. Es muy posible que en pocos años se pueda conocer el perfil metabolómico de estas enfermedades y así profundizar en el diagnóstico no invasivo y ofrecer mayores posibilidades terapéuticas para la epilepsia y especialmente para la enfermedad de base. No debemos olvidar los desórdenes metabólicos transitorios y los desequilibrios hidroelectrolíticos dentro de las causas de las convulsiones, en especial en el período neonatal, que se deben identificar y tratar precozmente para evitar daños mayores.

Neurometabolic diseases that manifest seizures and epilepsy are a large group of inherited disorders. They can present at any age from the neonatal period to adolescence. The epileptic manifestations can be very varied and, in general, they are epilepsies refractory to antiepileptic drugs. Epileptic phenomenology does not contribute to the diagnosis. The inborn errors of metabolism that respond to the use of cofactors should be known. In acute decompensation, it is essential to provide nutritional, hydroelectrolytic and respiratory support. It is possible that in a few years we can detect the metabolomic profile of these diseases, thus knowing better the diagnosis non-invasively and offering greater therapeutic possibilities for their epilepsy and especially for the underlying disease. We must not forget the transitory metabolic disorders and the electrolyte imbalances within the causes of seizures, especially in the neonatal period, and must be identified and treated early to avoid major damages.

Epilepsia en niños con hemiparesia congénita secundaria a infartos cerebrales vasculares perinatales / Epilepsy in children with congenital hemiparesis secondary to perinatal ictus

El objetivo fue describir la frecuencia, modo de presentación y características de la epilepsia en niños con hemiparesia congénita (HC). Estudio retrospectivo, descriptivo y multicéntrico, basado en la recolección de datos de las historias clínicas de pacientes de 0 a 19 años con HC secundaria a infarto perinatal en diferentes centros de la comunidad de Cataluña. Se incluyeron 310 niños (55% varones y 45% mujeres) de un total de 13 centros de Cataluña. Edad media del debut de las crisis fue de 2 ± 1 año. Presentaron epilepsia el 29.5% (n = 76), el subtipo vascular más frecuente fue el infarto presumiblemente perinatal (51.3%), seguido del accidente isquémico arterial neonatal (18.4%), infarto hemorrágico venoso periventricular (15.8%), infarto hemorrágico neonatal (10.5%) y trombosis venosa neonatal (3.9%). La semiología de las crisis más frecuente fue la focal motora en un 82%, seguida de las focales motoras con bilateralización secundaria en el 23%, focales discognitivas en 13.5%, generalizadas 2% y espasmos 6.5%. El 67.3% se controló con monoterapia y los fármacos empleados fueron el valproato, levetiracetam o carbamacepina. Se identificó el antecedente de estatus eléctrico durante el sueño en 3 pacientes, todos asociados a lesiones extensas que incluían al tálamo. Del total con epilepsia, el 35% debutaron con convulsiones neonatales en los primeros 3 días de vida. El 30% con accidente cerebrovascular perinatal y HC presentan riesgo de padecer epilepsia durante la infancia. Aquellos con infartos isquémicos tienen el riesgo más alto, por lo que requerirán un seguimiento dirigido a detectar precozmente la epilepsia e iniciar tratamiento.

The objective was to describe the frequency, mode of presentation and characteristics of epilepsy in children with congenital hemiparesis (CH). It is a etrospective, descriptive and multicenter study, based on the collection of data from the clinical records of patients from 0 to 19 years with CH secondary to perinatal infarction in different centers of the community of Catalonia. A total of 310 children were included (55% males and 45% females), from a total of 13 centers in Catalonia. Average age of onset of the crises was 2 ± 1 year. Epilepsy was present in 29.5% (n = 76), among which the most frequent vascular subtype was arterial presumed perinatal ischemic stroke (51.3%), followed by neonatal arterial ischemic stroke (18.4%), periventricular venous infarction (15.8%), neonatal hemorrhagic stroke (10.5%) and neonatal cerebral sinovenous thrombosis (3.9%). Semiology of the most frequent seizures was motor focal in 82%, followed by focal motor with secondary bilateralization in 23%, focal discognitive in 13.5%, generalized by 2% and spasms in 6.5%. The 67.3% were controlled with monotherapy and the drugs used were valproate, levetiracetam or carbamazepine. The antecedent of electrical status during sleep was identified in 3 patients, all associated with extensive lesions that included the thalamus. Of the total number of children with epilepsy, 35% began with neonatal seizu res in the first 3 days of life. The 30% of children with perinatal stroke and CH present a risk of epilepsy during childhood. Children with ischemic strock have the highest risk, so they will require a follow-up aimed at detecting prematurely the epilepsy and start a treatment.

Neurocysticercosis as a probable risk factor for hippocampal sclerosis / Neurocisticercose como provável fator de risco para esclerose hipocampal

ABSTRACT Neurocysticercosis is one of the most common risk factors for epilepsy but its association with drug-resistant epilepsy remains uncertain. Conjectures of an association with drug-resistant epilepsy have been fueled by reports of an association between calcific neurocysticercosis lesions (CNL) and hippocampal sclerosis (HS) from specialized epilepsy centers in Taenia solium-endemic regions. The debate arising from these reports is whether the association is causal. Evidence for the association is not high quality but sufficiently persuasive to merit further investigation with longitudinal imaging studies in population-based samples from geographically-diverse regions. The other controversial point is the choice of a surgical approach for drug-resistant epilepsy associated with CNL-HS. Three approaches have been described: standard anteromesial temporal lobectomy, lesionectomy involving a CNL alone and lesionectomy with anteromesial temporal lobectomy (for dual pathology); reports of the latter two approaches are limited. Presurgical evaluation should consider possibilities of delineating the epileptogenic zone/s in accordance with all three approaches.

RESUMO A neurocisticercose é um dos mais comuns fatores de risco para a epilepsia, mas sua associação com a epilepsia resistente a medicamentos (DRE) permanece incerta. Conjecturas de uma associação com a DRE têm sido alimentadas por relatos de uma associação entre lesões de neurocisticercose calcária (CNL) e esclerose hipocampal (HS) de centros especializados em epilepsia em regiões endêmicas de Taenia solium. O debate que surge desses relatórios é se a associação é causal. Se bem as evidências para a associação não são de alta qualidade, são suficientemente persuasivas para merecer mais investigação com estudos longitudinais de imagens em amostras de base populacional de regiões geograficamente diversas. O outro ponto controverso é a escolha da abordagem cirúrgica para a DRE associada à CNL-HS. Três abordagens têm sido descritas: lobectomia temporal ântero-mesial padrão, lesionectomia envolvendo apenas CNL e lesionectomia com lobectomia temporal ântero-mesial (para patologia dupla); os relatórios das duas últimas abordagens são limitados. A avaliação pré-cirúrgica deve considerar as possibilidades de delinear a (s) zona (s) epileptogênica (s) de acordo com as três abordagens.

Epilepsia asociada al accidente cerebrovascular / Post-stroke epilepsy

El accidente cerebrovascular (ACV) es la causa más común de convulsiones y epilepsia observada en estudios poblacionales de adultos. Las convulsiones ocurren dentro de las 24 horas posteriores al ACV en un alto porcentaje de pacientes. La patogénesis de estas convulsiones de inicio temprano puede estar relacionada con cambios iónicos locales y liberación de altos niveles de neurotransmisores excito-tóxicos en el área lesionada. Una lesión permanente con cambios en la excitabilidad neuronal parece ser responsable de convulsiones de inicio tardío después del ACV. Los factores de riesgo más comúnmente identificados con el comienzo agudo o tardío de las convulsiones post ACV son la gravedad y la localización cortical. La mayoría de las convulsiones post ACV son focales al inicio pero pueden generalizarse secundariamente, el estatus epiléptico es poco frecuente. La eficacia de las drogas antiepilépticas para estas convulsiones no ha sido rigurosamente evaluada en estudios controlados, aunque la mayoría de las convulsiones pueden ser controladas con un solo agente. Dada la frecuencia relativamente baja de convulsiones recurrentes después del ACV y la ausencia de predictores absolutos de epilepsia post ACV, la decisión de cuándo tratar a los pacientes con una convulsión después de un ACV es difícil.

Stroke is the most common cause of seizures and epilepsy in population stuies of adults. Seizures occur within 24 hours of the stroke in a high percent of patients. The pathogenesis of these early-onset seizures may be related to local ion shifts and release of high levels of excitotoxic neurotransmitters in the area of ischemic injury. The risk of late-onset seizures may increase over time, an underlying permanent lesion that leads to persistent chnges in neuronal excitability appears to be responsible for late-onset seizures after stroke. The most consistently identified risk factors for acute and late post-stroke seizures are stroke severity and cortical location. Most seizures following stroke are focal at onset, but secondary generalization is common, particularly in patients with late-onset seizures. Status epilepticus is relatively uncommon. The efficacy of antiepileptic drugs for these post-stroke seizures has not been rigorously assessed in controlled trials, although most seizures can be controlled with a single agent. Given the relatively low frequency of recurrent seizures after stroke, and an absence of absolute predictors of poststroke epilepsy, the decision of when to treat patients for a post-stroke seizure is difficult.

Seizures and Epilepsy following Subarachnoid Hemorrhage: A Review on Incidence, Risk Factors, Outcome and Treatment

The mortality rates of subarachnoid hemorrhage (SAH) average 51%, and survivors frequently experience acute and long-term neurological conditions, including seizures and epilepsy. The incidence of post SAH-related seizures and epilepsy, its risk factors, outcomes and management are controversial. The present paper aims to discuss these aspects, to provide the pros and cons of different management options of this condition. A review on PubMed was performed encompassing the incidence of seizures and epilepsy following SAH, the risk factors for its occurrence, its related outcomes, and treatment. The incidence of seizures and epilepsy following SAH varies widely in the literature (from 6 to 26%). Some possible risk factors were identified, such as middle cerebral artery (MCA) aneurysm, Hunt and Hess grade III, aneurysm clipping, thick subarachnoid clot, intracerebral hemorrhage, rebleeding, ischemic brain infarction, Fisher grade III or IV, acute hydrocephalus, hypertension history and poorWorld Federation of Neurosurgical Societies (WFNS) grade. Nevertheless, these relations are frequently uncertain. Also, it appears that the outcome of patients who suffered SAH is worsened by seizures. Given these uncertainties, the need for antiepileptic drug (AED) prophylaxis, the choice of the best drug and dose, as well as the duration of the treatment are controversial topics. However, some recommendations based on low quality evidence are reasonable to be adopted. These include considering AED prophylaxis when a seizure occur after SAH, considering routine long-term AED prophylaxis in specific populations, considering electroencephalogram (EEG) monitoring, and avoiding phenytoin prescription. That is, an individualized approach appears to be the best option, since there is no high-quality evidence.

Factores asociados a epilepsia en niños en México: un estudio caso-control / Factors associated with epilepsy in children in Mexico: A case-control study

Resumen: Introducción: La epilepsia es la enfermedad neurológica crónica más común en el mundo. En México es considerada dentro de las principales enfermedades vinculadas a la mortalidad por enfermedades no infecciosas de la población infantil. El objetivo del estudio fue identificar los factores asociados a epilepsia en niños derechohabientes del Instituto Mexicano del Seguro Social (IMSS), en Acapulco, México. Métodos: Estudio de casos y controles realizado entre abril de 2010 y abril de 2011. Fueron seleccionados 118 casos de la consulta externa de neurología pediátrica, con criterios diagnósticos de epilepsia de acuerdo a la Liga Internacional Contra la Epilepsia, con máximo dos años de evolución. Los controles fueron seleccionados de las Unidades de Medicina Familiar de donde procedieron los casos. En una encuesta a las madres, se obtuvo información sobre antecedentes heredofamiliares, prenatales, perinatales y posnatales. El análisis bivariado y multivariado se realizó mediante el procedimiento de Mantel-Haenszel. Resultados: Tres factores estuvieron asociados con la epilepsia: el antecedente familiar de epilepsia en familiares de primer grado (Razón de Momios ajustada (RMa) 2.44, IC95% 1.18 - 5.03), la asfixia al nacimiento (RMa 2.20, IC95% 1.16-34.18) y la infección de la vía urinaria en la etapa prenatal (RMa, 1.80 IC95% 1.0 - 3.24). Conclusiones: La asfixia al nacimiento y el reporte de infecciones de vías urinarias durante la gestación fueron factores asociados a epilepsia independientemente del antecedente de epilepsia en familiares de primer grado.

Abstract: Background: Epilepsy is the most common chronic neurological disease in the world. In Mexico, epilepsy is among the diseases more related to mortality due to non-infectious diseases in children. The objective of the study was to identify the factors associated with epilepsy in children entitled to the Mexican Social Security Institute (IMSS), in Acapulco, Mexico. Methods: We carried out a case-control study from April 2010 to April 2011. We selected 118 cases from the database of outpatient pediatric neurology with epilepsy diagnostic with two year of evolution according to the International League Against Epilepsy criteria. We selected 118 controls from the same Medical Units where cases were detected. Data collected throughout an interview with the mothers included information on history of epilepsy among relatives, prenatal, perinatal and postnatal history. Bivariate and multivariate analysis was performed using Mantel-Haenszel process. Results: Multivariate analysis identified three factors associated with epilepsy: family history of epilepsy in first-degree relatives (adjusted Odds ratio (ORa) 2.44, 95%CI 1.18 -5.03), birth asphyxia (ORa 2.20, 95%CI 1.16-34.18), and urinary tract infection in the prenatal stage (ORa, 1.80, 95%CI 1.0 - 3.24). Conclusions: Preventing birth asphyxia and urinary tract infections during pregnancy reduces the risk of epilepsy regardless of the history of epilepsy in first-degree relatives.

Diagnóstico diferencial entre Glioma y Absceso cerebrales: enseñanzas a partir de un caso / Differential diagnosis between Glioma and Abscess of the brain: teachings from a case

Development of neuroimaging in the last decades has revolutionized the neurological diagnosis, however for they interpretation clinical picture of the patient remains as a relevant aspect. Clinical case: a 30-year-old male patient with recent epileptic seizures, Jaksonian type, secondarily generalized, with no relevant history and normal neurological examination was presented. Initially a Magnetic Resonance of the brain was performed, the case was interpreted as Brain Abscess and treatment with intravenous antimicrobials was instituted for three weeks. A further analysis of the case revolves the diagnosis towards the possibility of a high degree malignant cerebral glioma, which was verified with the accomplishment of a craneotomy and biopsy. Conclusions: focal structural lesions of the brain, such as those caused by neuroepithelial tumors and abscesses, are among the most common causes of Epileptic Syndrome in adulthood. To date, there are no pathognomonic signs in the neuroimagenological differential diagnosis between the two entities. Despite the help of some advanced Magnetic Resonance techniques, the clinical correlation remains as the cornerstone for correct etiological interpretation, as well as pathological examination for the definitive diagnosis of both lesions.

Surgical treatment of neurocysticercosis. Retrospective cohort study and an illustrative case report / Tratamento cirúrgico da neurocisticercose. Estudo de coorte retrospectivo e um caso ilustrativo

ABSTRACT CONTEXT AND OBJECTIVE: Neurocysticercosis is prevalent in developing countries and manifests with several neurological signs and symptoms that may be fatal. The cysts may be parenchymal or extraparenchymal and therefore several signs and symptoms may occur. Depending on their location, neurosurgical procedures may be required, sometimes as emergencies. The aim here was to review 10-year statistics on all surgical neurocysticercosis cases at a large public tertiary-level hospital. DESIGN AND SETTING: Retrospective cohort at a large public tertiary-level hospital. METHODS: All surgical neurocysticercosis cases seen between July 2006 and July 2016 were reviewed. Parenchymal and extraparenchymal forms were considered, along with every type of surgical procedure (shunt, endoscopic third ventriculostomy and craniotomy). The literature was reviewed through PubMed, using the terms “neurocysticercosis”, “surgery”, “shunt” and “hydrocephalus”. RESULTS: 37 patients underwent neurosurgical procedures during the study period. Most were male (62.16%) and extraparenchymal cases predominated (81%). Patients aged 41 to 50 years were most affected (35.13%) and those 20 years or under were unaffected. Ventricular forms were most frequently associated with hydrocephalus and required permanent shunts in most cases (56.57%). CONCLUSIONS: The treatment of neurocysticercosis depends on the impairment: the parenchymal type usually does not require surgery, which is more common in the extraparenchymal form. Hydrocephalus is a frequent complication because the cysts often obstruct the cerebrospinal flow. The cysts should be removed whenever possible, to avoid the need for permanent shunts.

RESUMO CONTEXTO E OBJETIVO: A neurocisticercose é prevalente em países em desenvolvimento e manifesta-se com vários sinais e sintomas neurológicos que podem ser fatais. Os cistos podem ser parenquimatosos ou extraparenquimatosos, portanto vários sinais e sintomas podem estar presentes. Dependendo da sua localização, procedimentos neurocirúrgicos podem ser necessários, às vezes em caráter emergencial. O objetivo foi revisar dados estatísticos de um período de 10 anos de todos os casos cirúrgicos de neurocisticercose num grande hospital público terciário. TIPO DE ESTUDO E LOCAL: Coorte retrospectiva de um grande hospital público terciário. MÉTODOS: Todos os casos cirúrgicos de neurocisticercose de pacientes tratados entre julho 2006 e julho 2016 foram revisados. As formas parenquimatosas e extraparenquimatosas foram consideradas, assim como tipo de procedimento cirúrgico (derivação, terceiroventriculostomia endoscópica e craniotomia). A literatura foi revisada por meio da PubMed, utilizando-se os termos “neurocysticercosis”, “surgery”, “shunt” e “hydrocephalus”. RESULTADOS: 37 pacientes foram submetidos a procedimentos neurocirúrgicos nesse período, a maioria do sexo masculino (62.16%%) e casos extraparenquimatosos predominaram (81%). Pacientes com idade 41-50 anos foram os mais afetados (35,13%) e aqueles com 20 anos ou menos não foram afetados. As formas ventriculares mais frequentemente estiveram associadas a hidrocefalia e necessitaram da realização de shunts definitivos na maior parte dos casos (56,57%). CONCLUSÕES: O tratamento depende da forma de acometimento: o tipo parenquimatoso usualmente não necessita de cirurgia que é mais comum na forma extraparenquimatosa. Hidrocefalia é uma complicação frequente pois muitas vezes os cistos obstruem o fluxo liquórico. A remoção dos cistos deve ser realizada sempre que possível para evitar a necessidade de derivações definitivas.

Neuropsychiatric manifestations and epidemiology of neurocysticercosis / Manifestações neuropsiquiátricas e epidemiologia de neurocisticercose

Neurocysticercosis (NCC) is the brain infection caused by larval stages of the helminth Taenia solium. The embryos of Taenia travel through the bloodstream and can reach the brain, muscles, eyes, and various organs. In the brain, the psychiatric manifestations are mood disorders, depression and anxiety, which are commonly associated with epilepsy and sensory-motor deficits. Neurocysticercosis is a frequent parasitic disease in the world population; it is endemic in Central and South America, Asia and Sub-Saharan Africa. In the present review, we report the major symptoms and signals of neurocysticercosis common to neurological and psychiatric illnesses. We briefly present Epidemiology of those manifestations and analyze the relationship between pathological changes and NCC symptomatology. OBJECTIVES AND METHODOLOGY: A literature review was conducted to characterize epidemiological, neurological and psychiatric manifestations of NCC. The final 90 papers were selected of a set of 937 publications from 2010 to 2016. RESULTS: NCC is a major cause of epilepsy in endemic areas; further- more, leads to a diversity of motor and sensitive deficits, manifestations vary from headache to severe intracranial hypertension. Potentially fatal conditions include arteritis, encephalitis and hydrocephalus. Depression and cognitive decline remain among the most important psychiatric manifestations. Neuropsychiatric manifestations, Epidemiology, and neuroimaging provide diagnostic criteria. Brain scans may reveal one or diverse cysts filled with fluid within a scolex (parasite's head). CONCLUSION: NCC's diversity of presentations encourage health professionals to consider it in diagnoses, especially in endemic countries, and also in non-endemic areas because migrants and travelers are subject to contagious. Treatment consists in use of antiparasitic drugs (albendazol, praziquantel) and drugs to treat associated conditions (anticonvulsants, corticosteroids). Surgery is reserved to extirpate the parasite from particular locations (eyes, spinal cord, cerebral ventricles) or to differentiate NCC from tumors, tuberculosis, mycosis, etc. Prevention includes treatment of intestinal helminthiasis, sanitation in animal farming, food preparing hygiene, quality control of water and food.

Neurocisticercose é a infecção cerebral causada pelos estágios lar- vais do helminto Taenia solium. Os embriões da Taenia deslocam-se através da corrente sanguínea e podem atingir o cérebro, músculos, olhos e vários órgãos. No cérebro, as manifestações psiquiátricas são transtornos de humor, depressão e ansiedade, as quais estão comumente associados com epilepsia e deficiências sensório-motoras. Neurocisticercose é uma parasitose frequente na população mundial, é endêmica na América Central e do Sul, Ásia e África subsaariana. Na presente revisão, relatamos os principais sintomas e sinais de neurocisticercose pertinentes a doenças neurológicas e psiquiátricas. Nós brevemente apresentamos a Epidemiologia dessas manifestações, e analisamos a relação entre alterações patológicas e sintomatologia da NCC. OBJETIVOS E METODOLOGIA: Uma revisão da literatura foi conduzida para caracterizar a epidemiologia, as manifestações neurológicas e psiquiátricas de NCC. Os 90 artigos finais foram selecionados de um conjunto de 937 publicações entre 2010 a 2016. RESULTADOS: NCC é uma importante etiologia de epilepsia em áreas endêmicas, além disso causa uma diversidade de deficiências motoras e sensoriais, as manifestações variam de cefaleia a severa hipertensão intracraniana. Condições potencialmente fatais incluem arterites, encefalites e hidrocefalia. Depressão e declíneo cognitive permanecem entre as mais importantes manifestações psiquiátricas. Manifestações neuropsiquiátricas, epidemiologia e neuroimagem provêm os critérios de diagnóstico. As imagens cerebrais podem revelar um ou diversos cistos preenchidos com líquido e o escólex (cabeça) do parasito. CONCLUSÕES: A diversidade de apresentações da NCC encoraja os profissionais de saúde a considerá-la dentre os diagnósticos, especialmente em países endêmicos; e também em áreas não-endêmicas, pois migrantes e viajantes estão sujeitos ao contágio. O tratamento consiste no uso de antiparasíticos (albendazol, praziquantel) e medicamentos para tratar condições associadas (anticonvulsivantes, corticosteróides). Cirurgia é reservada para remoção do parasito de locais particulares (olhos, medula espinhal, ventrículos cerebrais) ou para diferenciar NCC de tumores, tuberculose, micose, etc. Prevenção inclui o tratamento de helmintíases intestinais, sanidade animal, higiene ao preparar alimentos, controle da qualidade da água e alimentos.

Neurocysticercosis in asplenic patient, case report / Neurocisticercose em paciente asplênico, relato do caso

Neurocysticercosis is an important cause of neurologic and psychiatric disorders; it is a frequent etiology for acquired epilepsy worldwide. The parasitic infection of Taenia solium (including larval dissemination to the nervous system) can be avoided by effective means of prevention. Nonetheless, this disease remains endemic in many regions of the world. To demonstrate the importance of prophylaxis this paper reports the case of a patient without spleen, who was treated for neurocysticercosis manifested by epilepsy. In twenty years of follow up, the patient did not experience a repeat occurrence of neurocysticercosis, despite of immunological impairment (absence of spleen) and environmental exposure (living in an endemic area). Prevention was guided by a regular use of anthelmintic (Albendazole) and health education.

Neurocisticercose é uma importante causa de doenças neurológicas e psiquiátricas, é uma frequente etiologia de epilepsia adquirida, no mundo. A infecção parasitária da Taenia solium (incluindo a disseminação das larvas para o sistema nervoso) pode ser evitada por meios eficazes de prevenção; no entanto, esta enfermidade ainda é endêmica em muitas regiões do mundo. Para demonstrar a importância da profilaxia relata-se o caso de um paciente sem baço, o qual foi tratado para a neurocisticercose manifestada por epilepsia. Em vinte anos de seguimento, o paciente não repetiu a ocorrência de neurocisticercose, apesar de dano imunológico (ausência de baço) e exposição ambiental (habitação em área endêmica). A prevenção foi guiada pelo uso regular de anti-helmíntico (Albendazole) e medidas educativas em saúde.

Ludopatía y epilepsia en demencia frontotemporal: Reporte de dos casos / Pathological gambling and epilepsy in patients with frontotemporal dementia: Two case reports

RESUMEN La demencia frontotemporal es un trastorno neurodegenerativo cuyo subtipo más común es la variante conductual. Es considerada la causa de demencia más frecuente en menores de 60 años. Se presentan dos casos no emparentados cuyos síntomas típicos fueron: deterioro progresivo de la cognición, del comportamiento, alteraciones psiquiátricas como desinhibición, actos impulsivos, apatía, falta de empatía, estereotipias y cambios en los hábitos de alimentación. La resonancia magnética cerebral, en ambos casos, mostró atrofia frontotemporal a predominio izquierdo; en la evaluación neuropsicológica se evidenció alteraciones de las funciones ejecutivas. El primer caso cursó con ludopatía como síntoma inicial, motivo por el cual permaneció por un año en un centro psiquiátrico, siendo el segundo en Latinoamérica y uno de los pocos casos reportados en el mundo. El segundo caso presentó crisis epilépticas en su evolución.

ABSTRACT Frontotemporal dementia is a neurodegenerative disorder of which the behavioral variant is most common. This condition is currently considered the most common cause of dementia in people younger than 60 years. Here, we present two unrelated cases in which the typical symptoms were cognitive and behavioral progressive deterioration and psychiatric disorders such as disinhibition, impulsive acts, apathy, lack of empathy, stereotypies, and changes in eating habits. The first case exhibited pathological gambling as the initial symptom and resided in a psychiatric facility for a year. Notably, this was the second such case in Latin America and one of only a few such cases reported worldwide. The second case presented with epileptic seizures during evolution. In both cases, brain magnetic resonance revealed left-predominant frontotemporal atrophy, and alterations in executive function were evident during neuropsychological assessments.

Role of Genetics in the Etiopathogenesis of Genetic Generalized Epilepsy: A Review of Current Literature

"Until recently; genetic generalized epilepsy (GGE) was believed to be of presumed genetic etiology with no identifiable genetic mutation or demonstrable epigenetic abnormality. A wide range of epileptic disorders has clue for an inherited susceptibility. Monogenic disorders associated with epilepsy mental retardation and structural brain lesion typified by heterotopias; tuberous sclerosis; and progressive myoclonus epilepsies account for about 1 of epilepsies. This review focuses on the role of genetic mutations and epigenetic rearrangements in the pathophysiologic mechanism of GGE. To achieve this; PubMed; EMBASE; and Google Scholar were systematically and comprehensively searched using keywords (""epilepsy"" ""juvenile myoclonic epilepsy (JME);"" ""typical absences;"" ""idiopathic generalized epilepsy;"" ""JME;"" ""juvenile absence epilepsy;"" ""childhood absence epilepsy"" ""generalized tonic-clonic seizure"" ""GTCS""). Most GGE has evidence of underlying genetic inheritance. Recent animal studies have shown that early detection and treatment of genetic generalized epilepsies can alter the phenotypic presentation in rodents. These findings suggest a critical period in epileptogenesis; during which spike-and-wave seizures can be suppressed; leading to chronic changes in the brain (epileptogenesis) and the preceding dysfunctions may; therefore; be targeted using therapeutic approaches that may either delay or inhibit the transition to active epileptic attack. The interplay between genetic mutations and epigenetic rearrangements play important roles in the development of GCE and that this process; especially at crucial developmental periods; is very susceptible to environmental modulations"

Bases moleculares del síndrome de Rett, una mirada actual / Molecular basis of Rett syndrome: A current look

El síndrome de Rett (SR) es un trastorno del neurodesarrollo que afecta casi exclusivamente a niñas y cursa secundariamente con autismo. Es poco frecuente y consta de 5 formas clínicas, una clásica y el resto atípicas que comprometen de manera general la habilidad manual, el lenguaje y la motricidad amplia unida a la aparición de estereotipias y epilepsia precoz. Con el objetivo de actualizar la información sobre SR, se aplicaron los descriptores de búsqueda Síndrome de Rett, genes y «Síndrome de Rett¼, «Rett Syndrome gene¼, «Rett Syndrome¼, «Rett Syndrome gene therapy¼ y «Rett Syndrome review¼. Se investigó en los archivos digitales PubMed, Hinari, SCIELO y Medline, y se consultaron los sitios web OMIM, ORPHANET, GeneMap, Genetests, Proteins y Gene, entre otros. Entre 1.348 artículos se seleccionaron 42, los cuales reportan 3 genes causantes del síndrome: MECP2, CDKL5 y FOXG. El gen MECP2 está mutado en el 80% de los pacientes con SR clásico así como en el 40% de los afectados con alguna de sus formas atípicas. El SR con epilepsia precoz y la variante congénita se deben fundamentalmente a variaciones en los genes CDKL5 y FOXG1 respectivamente. Conclusiones: El diagnóstico del SR se basa en criterios clínicos, sin embargo, los avances en la biología molecular y en la genética en particular han abierto el abanico de posibilidades diagnósticas a las diferentes formas clínicas que antes quedaban sin clasificar, a la vez que el análisis molecular permite confirmar el criterio clínico y aportar información en cuanto al pronóstico del paciente.

Rett syndrome (RS) is a neurodevelopmental disorder that exclusively affects girls, and occurs along with autism. It is very uncommon, and has five distinct forms, one classic and the others atypical, which generally compromise manual skills, language, and mobility, and widely associated with the appearance of stereotypy and early epilepsy. With the aim of updating the information about RS, a search was performed in the computer data bases of PubMed, Hinari, SCIELO and Medline, as well as consulting other web sites including OMIM, ORPHANET, GeneMap, Genetests, Proteins and Gene, using the descriptors "Síndrome de Rett", "genes y Síndrome de Rett", "Rett Syndrome gene", "Rett Syndrome", "Rett Syndrome gene therapy", and "Rett Syndrome review". Of the 1,348 articles found, 42 articles were selected, which reported 3 genes causing the syndrome: MECP2, CDKL5 and FOXG. The MECP2 gene is mutated in 80% of patients with classic RS, as well as in 40% of those affected by any of its atypical forms. RS with early epilepsy and the congenital variant are mainly due to variations in the CDKL5 and FOXG1 genes, respectively. Conclusions: The diagnosis of RS is based on clinical criteria. However, the advances in molecular biology and genetics have opened a wide range of possibilities for diagnosing the different clinical forms that could not be classified before. Molecular analysis can help confirm the clinical criteria and provided information as regards the prognosis of the patient.