O uso do canabidiol em crianças com epilepsia resistente a medicamento e a diminuição na frequência das crises: revisão rápida / The use of cannabidiol in children with drug-resistant epilepsy and the decrease in the frequency of seizures: quick review

Uso de canabidiol (CDB) medicinal presente no óleo de canabis. Indicação: Tratamento de crianças portadoras de epilepsia refratária resistente a medicação e síndromes graves decorrentes. Pergunta: O uso do canabidiol em crianças com epilepsia resistente a medicamentos apresentaria diminuição na frequência de crises convulsivas? Objetivo: Investigar a eficácia e a segurança do canabidiol, em comparação a placebo, na manutenção da remissão em crianças com epilepsia refratária. Métodos: Revisão rápida de revisões sistemáticas, por meio de buscas bibliográficas realizadas nas bases PUBMED, SCOPUS, BVS, Cochrane Library. Foram utilizadas estratégias de buscas com vocabulário padronizado e avaliação da qualidade metodológica usando o checklist AMSTAR 2. Resultados: Foram selecionadas duas revisões sistemáticas que atendiam aos critérios de elegibilidade. O CDB quando comparado ao placebo reduziu 50% das convulsões para epilepsia refrataria (RR 1.69 [1.20 ­ 2.36]), para a síndrome de Lennox-Gastaut o RR foi 2.98 (IC 95%, 1.83 - 4.85) e para a síndrome de Dravet o RR foi 2.26 (IC 95% ,1.38 - 3.70). O CDB pode resultar em uma diminuição no apetite em dosagens maiores (RR = 2,10, IC 95% [0,96­4,62], embora não apresente diferença de efeito dos grupos comparadores. Conclusão: Duas revisões sistemáticas recentes o CDB quando comparado ao placebo reduziu 50% das convulsões para epilepsia refrataria e síndromes graves. Entretanto, existem poucos ensaios clínicos publicados na área

: Use of cannabidiol (CBD) present in cannabis oil. Indication: Treatment of children with drug-resistant refractory epilepsy and severe syndromes resulting. Question: Would the use of cannabidiol in children with drug-resistant epilepsy lead to a decrease in seizure frequency? Objective: to investigate the efficacy and safety of cannabidiol, compared to placebos, in maintaining remission in children with refractory epilepsy. Methods: Rapid review of systematic reviews, through a bibliographical search carried out in the PUBMED, SCOPUS, BVS, Cochrane Library databases. Predefined search strategies were followed, and the methodological quality of the included studies was evaluated using the AMSTAR 2 tool. Results: Two systematic reviews were selected, which met the eligibility criteria. CBD when compared to placebo reduce 50% of seizures for refractory epilepsy (RR 1.69, IC 95% [1.20 ­ 2.36]), for Lennox-Gastaut Syndrome the RR was foi 2.98 (IC 95%, 1.83 - 4.85) and for Dravet Syndrome o RR FOI 2.26 (IC 95% ,1.38 - 3.70). CBD may result in appetite decrease using high doses (RR = 2.10, 95% IC [0.96­ 4.62], with no statistical difference. Conclusion: Two recent systematics, CBD, when compared to placebo, presented 50% of seizures for refractory epilepsy and severe syndromes. However, there are few clinical trials published in the area

Eficácia e segurança do Felbamato comparado a medicamentos disponíveis no SUS para o tratamento da epilepsia refratária em crianças e adultos: revisão rápida de evidências / Effectiveness and safety of Felbamate compared to drugs available in SUS for the treatment of refractory epilepsy in children and adults: rapid evidence review

Tecnologia: Felbamato. Indicação: Tratamento de epilepsia refratária. Pergunta: O Felbamato é mais eficaz e seguro comparado a anticonvulsivantes disponíveis no Sistema Único de Saúde (SUS) em pacientes com epilepsia refratária? Métodos: Revisão rápida de evidências (overview) de revisões sistemáticas, com levantamento bibliográfico realizado na base de dados PUBMED, utilizando estratégia estruturada de busca. A qualidade metodológica das revisões sistemáticas foi avaliada com AMSTAR-2 (Assessing the Methodological Quality of Systematic Reviews). Resultados: Foram selecionadas 2 revisões sistemáticas, que atendiam aos critérios de inclusão. Conclusão: O felbamato não demonstrou ser uma opção mais benéfica que os demais medicamentos disponíveis no SUS no tratamento de epilepsia refratária a medicamentos. Salienta-se que a maior parte das evidências eram de baixa certeza

Technology: Felbamate. Indication: Treatment of refractory epilepsy. Question: Is felbamate more effective and safer compared to anticonvulsants available in Brazilian Public Health System in patients with refractory epilepsy? Methods: A rapid review of evidence (overview) of systematic reviews, with bibliographic survey carried out in the PUBMED database, using a structured search strategy. The methodological quality of systematic reviews was assessed using AMSTAR-2 (Assessing the Methodological Quality of Systematic Reviews). Results: Two systematic reviews that met the inclusion criteria were selected. Conclusion: Felbamate did not prove to be a more beneficial option than the other drugs available in the Brazilian Public Health System in the treatment of drug-refractory epilepsy. It should be noted that most of the evidence was of low certainty

Evolución clínica, cognitiva y calidad de vida posquirúrgica en un caso con síndrome de Lennox Gastaut / Clinical and Cognitive Evolution and Postoperative Quality of Life in a Case with Lennox Gastaut Syndrome

Introducción: El síndrome de Lennox Gastaut se considera una encefalopatía epiléptica. Las anomalías epileptiformes en este síndrome contribuyen a la discapacidad intelectual gradual, a las comorbilidades psiquiátricas y alteraciones conductuales. En la práctica clínica aparecen atipicidades del síndrome, con focalización funcional cuyo tratamiento constituye un desafío. Objetivo: Describir la evolución clínica, cognitiva y calidad de vida en un caso con síndrome de Lennox Gastaut antes, y después del tratamiento quirúrgico. Presentación del caso: Paciente masculino de 16 años con síndrome de Lennox Gastaut. Se revisó la historia clínica y se tomaron en consideración, los resultados del video-electroencefalograma, de la resonancia magnética nuclear y de la tomografía computarizada por emisión de fotón único. Se evaluó, además, el proceder quirúrgico, la evaluación clínica y neuropsicológica. Se realizó una descripción cualitativa de la evolución del paciente a los 6 meses y al año de la intervención quirúrgica. Conclusiones: el paciente con síndrome de Lennox Gastaut presentó una evolución favorable después del tratamiento quirúrgico, lo cual se reflejó en una disminución en la frecuencia de las crisis. mejoría cognitiva, conductual y mejor calidad de vida(AU)

Introduction: Lennox Gastaut syndrome is considered an epileptic encephalopathy. Epileptiform abnormalities in this syndrome contribute to gradual intellectual disability, psychiatric comorbidities and behavioral disturbances. In clinical practice, atypicalities of the syndrome appear with functional focalization whose treatment constitutes a challenge. Objective: To describe the clinical and cognitive evolution and quality of life in a case with Lennox Gastaut syndrome before and after surgical treatment. Case presentation: A 16-year-old male patient with Lennox Gastaut syndrome. The clinical history was reviewed and the results of the video-electroencephalogram, nuclear magnetic resonance and single photon emission computed tomography were taken into consideration. The surgical procedure, clinical and neuropsychological evaluation were also evaluated. A qualitative description of the patient's evolution past 6 months and one year after surgery was prepared. Conclusions: the patient with Lennox Gastaut syndrome has a favorable evolution after surgical treatment, which is reflected in a decrease in seizure frequency, cognitive and behavioral improvement and better quality of life(AU)

Uso del cannabis medicinal en niños con encefalopatías epilépticas farmacorresistentes. Experiencia en Hospital Garrahan / Use of medicinal cannabis in children with drug-resistant epileptic encephalopathies. Experience at Garrahan Hospital

Objetivo: Reportamos resultados sobre la efectividad, seguridad y tolerancia del cannabidiol como adyuvante terapéutico en pacientes pediátricos con encefalopatías epilépticas del desarrollo (EED) resistentes al tratamiento farmacológico y no farmacológico tras un seguimiento promedio de 20 meses. Métodos: Se realizó un estudio de cohorte prospectivo para evaluar la eficacia, la seguridad y la tolerancia del aceite de cannabis medicinal enriquecido con CBD añadido a los medicamentos anticonvulsivos estándar en niños con EED resistentes a los medicamentos atendidos en un único centro. Resultados: Entre octubre de 2018 y marzo de 2020, se incluyeron 59 pacientes. La edad media en el momento del inicio del protocolo fue de 10,5 años (rango, 2-17 años). La mediana de la duración del tratamiento fue de 20 meses (rango, 12-32). La mediana de edad en el momento de la primera convulsión fue de 8 meses (rango, 1 día - 10 años). Al final del seguimiento, el 78% de los niños tenía una disminución ≥ 50% en frecuencia de las crisis y el 47,5% tenía una disminución > 75%. Siete pacientes (11,9%) estaban libres de convulsiones. El número de crisis se redujo de una mediana de 305/mes a 90/mes, que supone una reducción media del 57% y una mediana del 71% (p < 0,0001). Los efectos adversos fueron en su mayoría leves o moderados. El CBD se interrumpió en 17 pacientes (28,8%) por falta de respuesta al tratamiento, aumento de la frecuencia de las convulsiones, intolerancia al fármaco o cumplimiento terapéutico insuficiente. Conclusión: En los niños con EED resistentes a los fármacos, el tratamiento a largo plazo del cannabis medicinal enriquecido con CBD como terapia adyuvante resultó ser seguro, bien tolerado y eficaz. Las reducciones sostenidas en la frecuencia de las convulsiones y la mejora de los aspectos de la vida diaria se observaron en comparación con nuestros preliminares (AU)

Objective: We report results on the effectiveness, safety, and tolerance of cannabidiol (CBD) as add-on therapy in children with developmental and epileptic encephalopathies (DEE) resistant to pharmacological and non-pharmacological treatment after a mean follow-up of 20 months. Methods: A prospective cohort study was conducted to evaluate the efficacy, safety, and tolerability of CBD-enriched medical cannabis oil added to standard antiseizure medications in children with drug-resistant DEEs seen at a single center. Results: Between October 2018 and March 2020, 59 patients were included. The median age at protocol initiation was 10.5 years (range, 2-17 years). Median treatment duration was 20 months (range, 12-32). The median age at the time of the first seizure was 8 months (range, 1 day - 10 years). At the end of follow-up, 78% of the children had a decrease ≥ 50% in seizure frequency and 47.5% had a decrease of > 75%. Seven patients (11.9%) were seizure free. The number of seizures was reduced from a median of 305/month to 90/month, accounting for a mean reduction of 57% and a median of 71% (p < 0.0001). Adverse effects were mostly mild or moderate. CBD was discontinued in 17 patients (28.8%) due to lack of response to treatment, increased seizure frequency, drug intolerance, or poor compliance. Conclusion: In children with drug-resistant DEE, long-term treatment with CBD-enriched medicinal cannabis as add-on therapy proved to be safe, well tolerated, and effective. Sustained reductions in seizure frequency and improvement in aspects of daily living were observed compared to our preliminary results (AU)

Síndrome de Lowe, enfermedad renal crónica y síndrome de Lennox-Gastaut / Lowe syndrome, chronic kidney disease and Lennox-Gastaut syndrome

Introducción: El síndrome de Lowe o síndrome oculocerebrorenal es un trastorno multisistémico. Es una enfermedad rara e infrecuente. Objetivo: Exponer un caso clínico típico, con fracaso renal controlado sin método dialítico y que de manera tardía en su adolescencia se diagnostica con síndrome de Lennox-Gastaut. Presentación caso: Adolescente masculino de 18 años nacido de un embarazo sin riesgo y parto por cesárea, macrofeto. Desde el nacimiento, con diagnóstico perinatal de catarata congénita y evolutivamente glaucoma bilateral con tratamiento conservador. A partir del primer año de vida padece de acidosis tubular y síndrome de Fanconi con evolución a una enfermedad renal crónica. Relacionado todo con retraso del desarrollo psicomotor, discapacidad intelectual, estereotipias, síntomas obsesivos compulsivos y depresión. De manera tardía, a los 10 años tuvo inicio de crisis epilépticas de varios tipos con predominio de las tónicas durante el sueño y en vigilia, frecuentes, con electroencefalograma característico de síndrome Lennox-Gastaut. Tuvo atención interdisciplinaria y evolución clínica estable hasta la edad adulta cumplida. El estudio molecular de ADN materno y del niño confirmaron la mutación c2224_2226 del GTA (exón 19), delección de valina en la posición 742 del cromosoma X del OCRL 1, que ratifica el síndrome de Lowe. Conclusiones: El Síndrome de Lowe, es un trastorno multisistémico, ligado al cromosoma X y frecuente en varones. Clínicamente se caracteriza por alteraciones oftalmológicas, renales y neurológicas(AU)

Introduction: Lowe syndrome or oculocerebrorenal syndrome is a multisystemic disorder. It's a rare and uncommon disease. Objective: Show a typical clinical case, with controlled renal failure without dialytic method and that late in the adolescence is diagnosed with Lennox-Gastaut syndrome. Case presentation: 18-year-old male adolescent born of a risk-free pregnancy and cesarean delivery, with macrosomia. From birth, he had a perinatal diagnosis of congenital cataract and evolutionarily bilateral glaucoma with conservative treatment. From the first year of life he suffers from tubular acidosis and Fanconi syndrome with an evolution to chronic kidney disease. All of these were related to delayed psychomotor development, intellectual disability, stereotypies, obsessive-compulsive symptoms and depression. Lately, at 10 years old, epileptic seizures of various types with predominance of tonic ones during sleep and wakefulness began; they were frequent, with characteristic electroencephalogram of Lennox-Gastaut syndrome. He had interdisciplinary care and stable clinical evolution into adulthood. The molecular study of the mother and child DNA confirmed the c2224_2226 mutation of GTA (exon 19), valine deletion at position 742 of the X chromosome of OCRL 1, which ratifies Lowe syndrome. Conclusion: Lowe Syndrome is a multisystemic disorder, linked to the X chromosome and common in males. Clinically, it is characterized by ophthalmological, renal and neurological alterations(AU)

Múltiplas lesões dentárias em paciente com Síndrome de Lennox-Gastaut / Multiple dental lesions in a patient with Lennox-Gastaut Syndrome

Introdução: A Síndrome de Lennox-Gastaut (SLG) é uma encefalopatia epiléptica grave na infância. Seu tratamento é complexo, principalmente devido à multiplicidade das crises epilépticas, o que favorece à ocorrência de lesões dentais Objetivo: O objetivo deste relato é apresentar o manejo clínico de um paciente com SLG, vítima de traumas recorrentes, discutir os achados dentais observados e o tratamento odontológico realizado. Relato do caso: Paciente L.H.D.L., do sexo masculino, com 15 anos de idade, apresentando grande acúmulo de biofilme dental, alto risco de cárie, fluorose leve e gengivite generalizada. Clinicamente foi possível observar fratura de esmalte dos dentes 12 e 14. Os dentes 21, 22, 32 e 42 estavam ausentes clinicamente, o que se confirmou radiograficamente. Além disso, notou-se giroversão de 180 graus do dente 11, com a face palatina voltada para a vestibular. O dente apresentou-se com leve alteração de cor, mas com resposta positiva aos testes de vitalidade. Resultados: Técnicas de manejo de comportamental, foram adotadas e orientações quanto à higiene bucal e dietéticas foram fornecidas tanto ao paciente quanto ao seu cuidador. Quatro sessões de profilaxia e aplicação tópica de flúor foram realizadas semanalmente. O tratamento endodôntico foi realizado no dente 12, seguido da restauração de resina composta do dente 12 e 14 e a restauração estética do dente 11 (girovertido). Por fim, foi realizada uma prótese adesiva para restaurar a estética da região de incisivo central superior. Apesar das dificuldades para tratar pacientes com SLG, no presente caso foi possível obter resultados funcionais e estéticos satisfatórios com um diagnóstico e tratamento cuidadoso, envolvendo uma equipe multiprofissional treinada no atendimento de pacientes com necessidades especiais. Conclusão: Pode-se concluir que o cirurgião dentista deve estar familiarizado com as possíveis manifestações bucais da SLG e realizar uma pesquisa criteriosa de sinais de traumatismo dental e, sempre que possível, solicitar um exame radiográfico para que traumatismos não identificados ao exame clínico não passem desapercebidos.

Introduction: Lennox-Gastaut Syndrome (LSG) is a severe childhood epileptic encephalopathy. Its treatment is complex, mainly due to the multiplicity of epileptic crises, which in turn favors the occurrence of dental injuries. Objective: The aim of this case report is to present the clinical management of a patient with LGS, victim of recurrent trauma, discuss the observed dental findings and the dental treatment. Case report: Patient L.H.D.L., male, 15 years old presenting high quantity of oral biofilm, mild fluorosis and generalized gingivitis. Clinically, it was possible to observe enamel fractures of teeth 12 and 14. Teeth 21, 22, 32 and 42 were clinically absent, which was confirmed radiographically. In addition, a 180-degree rotation of tooth 11 was noted, with the palate facing the buccal aspect. The tooth presented a slight change in color, but with a positive response to vitality tests. Results: Behavioral management techniques were adopted and guidelines on oral hygiene and diet were provided to both the patient and their caregiver. Four sessions of prophylaxis and topical application of fluoride were performed weekly. Endodontic treatment was performed on tooth 12, followed by aesthetic restoration of teeth 12 and 14 and esthetic restoration of tooth 11 (rotated). Finally, an adhesive prosthesis was performed to restore the esthetics of the upper central incisor region. Despite the difficulties of treating patients with LGS, in the present case it was possible to obtain satisfactory functional and aesthetic results with a careful diagnosis and treatment, involving a multidisciplinary team trained in the care of patients with special needs. Conclusion: It can be concluded that the dental surgeon must be aware with the possible oral manifestations of GLS and carry out a careful search for signs of dental trauma and, whenever possible, request a radiographic examination so that unidentified traumas on clinical examination do not pass unnoticed.

Síndrome transicional: del síndrome de West al síndrome de Lennox-Gastaut / Transional syndrome: from West to Lennox-Gastaut syndromes

El síndrome de West o espasmos infantiles, es una encefalopatía epiléptica clasificada como epilepsias y síndromes generalizados. Hay múltiples informes de la evolución de síndrome de West a síndrome de Lennox-Gastaut de un 25 hasta 60%, sin reconocerse una causa específica. Se ha comunicado que pueden ser solo una entidad epiléptica dependiente de la edad y que estaría en relación con el grado de inmadurez cerebral. En esta revisión retrospectiva de 130 casos de espasmos infantiles, solo 14 (10.7%) evolucionaron a Lennox-Gastaut. El haber recibido en todos los casos vigabatrina como tratamiento nos hace suponer que la baja incidencia podría estar relacionada con el uso de este fármaco. Dado que la vigabatrina tiene una acción gabaérgica y aumenta los niveles de ACTH podría explicar esta relación, pero esto deberá confirmarse con el mejor conocimiento de los mecanismos íntimos de estas graves encefalopatías.

West syndrome or infantile spasms is an epileptic encephalopathy, classified as generalized epilepsies and syndromes. There are multiple reports of the evolution from West to Lennox-Gastaut syndrome of 25 up to 60%, without a specific cause is determined. It has been reported that they may be only an epileptic entity age dependent that it would be in relation to the degree of brain immaturity. In this retrospective review of 130 cases of West syndrome, only 14 (10.7%) evolved to Lennox-Gastaut. Having received in all cases vigabatrin as a treatment, makes us suppose that the low incidence could be related to the use of this drug. Given that vigabatrin has a gabaergic action and increased levels of ACTH, may explain this relationship but this must be confirmed with the best knowledge of the intimate mechanisms of these serious epileptic encephalopathies.

Eficacia de la Lamotrigina en pacientes epilépticos fármaco resistentes a tratamientos en un centro neurológico de referencia en la ciudad de Cali / Efficacy of Lamotrigine in epilepsy patients resistant to drug tratments in a neurological reference center in the city of Cali

Introducción: la epilepsia es una enfermedad neurológica frecuente, con una incidencia estimada de 50 por cada 100,000 habitantes y una prevalencia de cinco a diez por 1,000 habitantes en los países desarrollados. Se le llama refractaria cuando las crisis epilépticas son tan frecuentes que limitan la habilidad del paciente para vivir plenamente o cuando los efectos secundarios del manejo tratamiento son limitantes para el desarrollo normal de la persona pese al mejor manejo médico instaurado. La Lamotrigina es un antiepiléptico que inhibe los canales de sodio voltaje-dependientes, modulando la liberación presináptica de transmisores excitatorios de tipo glutamato y aspartato. Objetivo: determinar la efectividad de la Lamotrigina como monoterapia o en asociación con fármacos antiepilépticos convencionales en pacientes con Epilepsia Refractaria. Materiales y métodos: estudio descriptivo. Periodo de tiempo: mayo 2009 a noviembre 2012. Análisis de las variables por medio de frecuencias, promedios y proporciones. Resultados: muestra: 115 historias clínicas de pacientes con epilepsia refractaria. El 97,4% (112) tiene reducción en el número de crisis, siendo en el 85,2% (98) mayor o igual al 50%. Hubo un promedio de 9,45 crisis por mes, con una mediana de seis episodios, previo al manejo con este medicamento, mientras que tras la administración del medicamento, el promedio de episodios fue de 3,65 por mes, con mediana de 1 episodio/mes. El promedio de fármacos utilizados antes de introducir la Lamotrigina fue de 1,9 con un uso mínimo de 1 y máximo 6 y a partir del inicio de la Lamotrigina el promedio fue 2,3, con uso mínimo de 1 y máximo de 4 medicamentos. Conclusión: la Lamotrigina es un medicamento de última generación con adecuada efectividad y pocos efectos adversos que puede reducir de forma efectiva la frecuencia de crisis epilépticas en los pacientes de difícil manejo con refractariedad farmacológica.

Introduction: Epilepsy is a common neurological condition with an estimated incidence of 50 per 100,000 population and a prevalence five to ten per 1,000 population in developed countries. It is considered refractory when seizures are so frequent that the patient's ability to live fully is limited, when treatment does not control seizures, or when side effects are limiting for the normal development of the person. Lamotrigine is an antiepileptic drug that inhibits the sodium channel voltage-dependent presynaptic modulating excitatory transmitter glutamate and aspartate type. Objective: To determine the effectiveness of Lamotrigine as monotherapy or in combination with conventional antiepileptic drugs in patients with refractory epilepsy. Materials and methods: A descriptive study. Period May 2009 to November 2012. Variable analysis by frequency, averages and ratios. Results: Sample: 115 medical records. 97.4% (112) of the patients have reduced the number of seizures, so than 85.2% (98) have had a reduction greater than or equal to 50%. There was an average of 9.45 attacks per month, with a median of 6 episodes, prior to treatment with this medicine, whereas after administering medication, the average was 3.65 episodes per month, with a median of 1 crisis/month. The average drugs used before initiating the Lamotrigine was 1.9 with a minimum of 1 and maximum of 6 and from the beginning of the Lamotrigine the average was 1.54, with minimum use of 1 and maximum of 4 drugs. Conclusion: Lamotrigine is a last generation drug with great effectiveness and few side effects, which can effectively reduce the frequency of seizures in patients with refractory epilepsy.

Características clínicas y electroencefalográficas de los pacientes con Síndrome de Lennox-Gastaut en el programa de epilepsia de la U. Antioquia. Medellín 2007 - 2012. / Clinical and electroencephalographic characteristics of patients with Lennox-Gastaut Syndrome within the epilepsy program attended at Antioquia University. Medellin 2007 - 2012

Objetivo: describir las características clínicas y electroencefalográficas en una muestra de pacientes con síndrome de Lennox-Gastaut diagnosticados en el programa de epilepsia de la Universidad de Antioquia en Medellín entre 2007 y 2012. Materiales y métodos: se trata de un estudio observacional, descriptivo y retrospectivo. La población de estudio estuvo conformada por todos los registros de pacientes con diagnóstico de síndrome de Lennox-Gastaut incluidos en la base de datos del programa de epilepsia de la Universidad de Antioquia y que fueron evaluados por videomonitoreo electroencefalográfico. Las variables clínicas y electroencefalográficas fueron examinadas. Para el análisis se utilizó el programa estadístico SPSS. Resultados: se revisaron 18 videotelemetrías. El promedio de edad fue 19,89 años, con igualdad de género en un 50%. La mitad de los pacientes presentaba antecedentes perinatales de riesgo. La edad promedio de la primera crisis fue de 4,67 años y el número promedio de crisis por semana fue de 31,17. Las crisis más frecuentes fueron las ausencias atípicas en 17 pacientes (94,4%). El medicamento más utilizado fue el ácido valproico. En todos los pacientes se encontró retardo mental y los hallazgos electroencefalográficos característicos del síndrome, tanto en vigilia como en sueño. En el sueño superficial se observó la mayoría de anormalidades. Conclusiones: el síndrome de Lennox-Gastaut es una de las encefalopatías epilépticas más severas de inicio en la niñez, conlleva grandes costos sociales y económicos y tiene un pobre pronóstico debido a sus condiciones mórbidas asociadas.

Objetive: To describe the clinical and electroencephalographic features in a sample of patients diagnosed with Lennox-Gastaut syndrome. The patients were part of the epilepsy program at the University of Antioquia in Medellin between 2007 and 2012. Materials and methods: This was completed with an observational, descriptive and retrospective method. The data used was taken from the records of all patients diagnosed with Lennox-Gastaut syndrome included in the epilepsy program at the University of Antioquia and who were evaluated by EEG video monitoring. Clinical and electroencephalographic variables were analyzed. For the analysis we used SPSS. Resualts: We reviewed 18 video EEG. The average age of the patients was 19,89 years, with the gender being equally being balanced. Half of the patients had a prenatal risk. The average age of the first seizure was at 4,67 years and the average number of attacks per week was 31,17. The most frequent were atypical absence seizures in 17 patients (94,4%). The most commonly used drug was valproic acid. All patients experienced mental retardation and characteristic electroencephalographic findings of the syndrome, during both times of wakefulness and sleep. Most abnormalities were observed during superficial sleep. Conclusions: The Lennox-Gastaut syndrome is one of the most severe epileptic encephalopathies with onset during childhood and with large social and economic costs and poor prognosis due to its associated morbid conditions.

Influence of ketogenic diet on the clinical effects and electroencephalogram features in 31 children with pharmacoresistant epileptic encephalopathy / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the effect of ketogenic diet (KD) on the clinical and electroencephalogram features in children with pharmacoresistant epileptic encephalopathy.</p><p><b>METHOD</b>Thirty-one children (19 boys, 12 girls) aged 7 months to 7 years (mean 2 years 5 month) with epilepsy refractory to conventional antiepileptic drugs (AEDs) were included in this study. In addition to their original AED treatment, the children were assigned to different ketogenic diets based on their age. The prospective electro-clinical assessment was performed prior to the KD and then one week, one month and again 3 months after the initiation of therapy, respectively.</p><p><b>RESULT</b>The reduction of seizure frequency in 52%, 68% and 71% of all patients exceeded 50% one week, one month and three months after KD treatment respectively. KD is particularly effective in myoclonic astatic epilepsy (MAE; Doose Syndrome) and West syndrome with 100% and 81.25% of the patients having a greater than 50% seizure reduction, respectively. After 3 months of KD treatment, more than 2/3 patients experienced a reduction in interictal epileptiform discharges (IEDs) and improvement in EEG background.</p><p><b>CONCLUSION</b>The clinical and electroencephalographic improvement confirms that KD is beneficial in children with refractory epilepsy.</p>

Droga órfã: surgimento de um novo conceito / Orphan drug: arisement of new concept

INTRODUÇÃO: A partir de 2007, quatro novas drogas anti-epilépticas foram aprovadas, o acetato de eslicarbazepina, lacosamida, rufinamida e estiripentol. Destas drogas, duas aparecem como drogas órfãs, ou seja, drogas desenvolvidas especificamente para o tratamento de uma síndrome-específica, sendo essas, o estiripentol, indicada na Síndrome de Dravet e a rufinamida, na Síndrome de Lennox-Gastaut. OBJETIVO: Revisar a eficácia, tolerabilidade e efeitos adversos das novas drogas, em especial das drogas órfãs. MÉTODO: Estudos foram selecionados de banco de dados eletrônicos. A análise destes estudos averiguou a eficácia, efetividade, efeitos adversos mais comuns, raros e de longo prazo assim como a comparação com os fármacos existentes. CONCLUSÕES: O desenvolvimento de drogas específicas no tratamento das síndromes epilépticas constitui-se na pedra angular do tratamento da epilepsia, minimizando o tempo até o alcance do controle de crises, com consequente menor tempo de exposição aos efeitos deletérios da epilepsia.

INTRODUCTION: Four new antiepileptic drugs have been approved since 2007, eslicarbazepine acetate, lacosamide, rufinamide and stiripentol. Out of these, two drugs are orphan drugs, that is, drugs specifically designed for the treatment of a specific epileptic syndrome, such as stiripentol for Dravet Syndrome and rufinamide for Lennox-Gastaut Syndrome. OBJECTIVE: to review the efficacy, tolerability and adverse effects of the newly released drugs, especially of both orphan drugs. METHODOLOGY: Studies were selected from electronic data base. Analyses of these studies ascertained the most common, rare and long-term adverse effects, efficacy, and effectiveness, as well as comparison with existing drugs. CONCLUSIONS: The development of specific drugs in the treatment of epileptic syndromes constitutes the cornerstone in the treatment of epilepsy, minimizing the time needed to achieve seizure control, with consequent reduced exposure to the deleterious effects of epilepsy.