Evolución clínica, cognitiva y calidad de vida posquirúrgica en un caso con síndrome de Lennox Gastaut

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.

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.

Use of cannabidiol in the treatment of epilepsy: Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex

SUMMARY OBJECTIVE: The objective of this systematic review with meta-analysis was to evaluate the efficacy, safety, and short- and long-term tolerability of cannabidiol (CBD), as an adjunct treatment, in children and adults with Dravet syndrome (SD), Lennox-Gataut syndrome (LGS), or tuberous sclerosis complex (TSC), with inadequate control of seizures. METHODS: This systematic review was conducted through a search for scientific evidence in the Mediline/PubMed, Central Cochrane, and ClinicalTrials.gov databases until April 2022. Selected randomized clinical trials (RCTs) that presented the outcomes: reduction in the frequency of seizures and total seizures (all types), number of patients with a response greater than or equal to 50%, change in caregiver global impression of change (CGIC) (improvement ≥1 category on the initial scale), adverse events (AEs), and tolerability to treatment. This review followed Preferred Reporting Items for Systematic reviews and Meta-Analyses. RESULTS: Notably, six RCTs were included, with a total of 1,034 patients with SD, LGS, and TSC, of which 3 were open-label extension RCTs. The meta-analysis of the studies showed that the use of CBD as compared with placebo, in patients with convulsive seizures refractory to the use of medications, reduces the frequency of seizures by 33%; increases the number of patients with a reduction ≥50% in the frequency of seizures by 20%; increases the number of patients with absence of seizures by 3%; improves the clinical impression evaluated by the caregiver or patient (S/CGIC) in 21%; increases total AEs by 12%; increases serious AE by 16%; increases the risk of treatment abandonment by 12%; and increases the number of patients with transaminase elevation (≥3 times the referral) by 15%. CONCLUSIONS: This systematic review, with meta-analysis, supports the use of CBD in the treatment of patients with seizures, originated in DS, LGS, and TSC, who are resistant to the common medications, presenting satisfactory benefits in reducing seizures and tolerable toxicity.

Hormona adrenocorticotropa en pacientes con síndrome de West y progresión al síndrome de Lennox-Gastaut / Adrenocorticotropic hormone in patients with West syndrome and progression to Lennox-Gastaut syndrome

Introducción: Se evaluará el uso de la hormona adrenocorticotropa como tratamiento del síndrome de West (síndrome de Lennox-Gastaut) y el tiempo requerido para la progresión hacia la evolución grave. Existen escasos datos sobre esta patología para nuestra población. Material y Métodos: Se trata de una cohorte donde se analizaron 139 historias clínicas de pacientes evaluados en dos unidades de pediatría de la ciudad de Lima entre los años 2000 y 2010. Se incluyeron todos los pacientes que cumplían con los criterios: 1) Espasmos masivos, 2) Retraso en el desarrollo psicomotor y 3) Electroencefalograma que mostró hipsarritmia. Se administró hormona adrenocorticotropa como tratamiento posterior al diagnóstico. El período de seguimiento duró 10 años. Resultados: El cociente de riesgo (CR) de la progresión al Síndrome de Lennox-Gastaut en pacientes que utilizaron la hormona adrenocorticotropa en comparación con aquellos sin hormona adrenocorticotropa fue de 0,45 (IC del 95%: 0,24-0,83, p=0,011). El CR de la progresión al Síndrome de Lennox-Gastaut ajustado para todas las variables estudiadas (edad de inicio, sexo, frecuencia de las crisis, etiología y tiempo desde el diagnóstico hasta el inicio del tratamiento) en pacientes que utilizaban la hormona adrenocorticotropa en comparación con aquellos sin hormona adrenocorticotropa fue de 0,56 (IC del 95%: 0,29 a 0,08; p=0,085). Conclusiones: El uso de la hormona corticotropina en pacientes con síndrome de West podría proteger contra la progresión al síndrome Lennox-Gastaut. Consideramos que esto apoya la evidencia encontrada en poblaciones similares a la nuestra, y creemos que este hallazgo podría ser confirmado con ensayos clínicos.

Background: This paper will evaluate the use of adrenocorticotropic hormone as a therapy modality for West syndrome and the time required for development of the severely progressive form of West syndrome (LGS, Lennox-Gastaut syndrome). There is little data on this condition for our population. Material and Methods: This is a cohort review in which 139 patient records were evaluated in two pediatric units in Lima, Peru; and they were analyzed between 2000 and 2010. All patients who met the following criteria were included in the study: massive spasms, delayed psychomotor development, and hypsarrhythmia in electroencephalogram (EEG) tracing. Adrenocorticotropic hormone was administered to a group of patients as post-diagnosis therapy. The follow-up period for these patients was 10 years. Results: The hazard ratio (HR) for progression to Lennox-Gastaut Syndrome in patients using adrenocorticotropic hormone was 0.45 (95% CI: 0.24-0.83, p= 0.011) compared to those without adrenocorticotropic hormone. Adjusted RR for progression to Lennox-Gastaut Syndrome for all variables studied (age of onset, sex, frequency of seizures, etiology, and time from diagnosis to therapy initiation) in patients who used adrenocorticotropic hormone was 0.56 (95% CI 0.29 to 0.08, P= 0.085) compared with those without adrenocorticotropic hormone. Conclusions: The use of adrenocorticotropic hormone in patients with West syndrome could protect against progression to Lennox-Gastaut syndrome. We consider this supports the evidence found in populations similar to ours, and we believe this finding could be confirmed with clinical trials.

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)

Lennox-Gastaut Syndrome in Mitochondrial Disease

PURPOSE: Previous studies have shown that neurologic symptoms are dominant in patients with mitochondrial diseases, and most of these patients have seizure-related disorders. The epileptic classification of these patients as Lennox-Gastaut syndrome (LGS) is as high as 25%. This study aimed to investigate the clinical manifestations, diagnoses, treatments, and epilepsy in LGS, which is associated with mitochondrial disease. MATERIALS AND METHODS: A retrospective study was conducted on 372 patients who were diagnosed with mitochondrial disease between 2006 and 2016. Of these 372 patients, 40 patients diagnosed with LGS were selected, and they were classified into two groups based on the history of West syndrome. Patient characteristics were reviewed, and associations between clinical factors and outcomes after the treatment were analyzed. RESULTS: The proportion of individuals with mitochondrial disease with LGS with a history of West syndrome was 32.5%. Among the patients with mitochondrial disease with LGS, neonatal seizure (p=0.029), seizure as the first symptom (p=0.018), and generalized paroxysmal fast activity frequency on electroencephalogram (p=0.018) in the group with a history of West syndrome were statistically significantly high. The first symptom onset (0.6±0.4 yrs vs. 1.6±0.9 yrs, p=0.003) and first seizure onset (0.9±0.7 yrs vs. 3.9±3.1 yrs, p < 0.001) were significantly faster in patients with a history of West syndrome. CONCLUSION: Close monitoring of the medical condition and early intervention might improve the prognosis of individuals with mitochondrial disease with LGS and a history of West syndrome.

Clinical effect of levetiracetam combined with topiramate in the treatment of refractory epilepsy syndrome / 中国基层医药

Objective@#To observe the clinical effect of levetiracetam combined with topiramate in the treatment of children with Lennox-Gastaut syndrome(LGS).@*Methods@#From January 2016 to August 2018, 60 cases of LGS syndrome admitted to the pediatrics department of Ganzhou People's Hospital were selected The patients were divided into left ethylancetan single drug treatment group, topiramate single drug treatment group, and left ethylancetin combined with topiramate treatment group according to the digital table, with 20 cases in each group.The children in the three groups were treated with the intervention of levetiracetam, topiramate and levetiracetam combined with topiramate according to the test requirements.After 8 weeks of treatment, the clinical efficacy was compared among the three groups in terms of efficacy, cranial magnetic resonance spectrum, eeg slow wave index and intelligence evaluation.@*Results@#The clinical effective rate(95%), NAA/Cho+ Cr(0.882±0.107), NAA/Cho(1.624±0.088) and NAA/Cr(1.634±0.042) of the combined treatment group were significantly higher than those before treatment, the differences were statistically significant(all P<0.05). The eeg slow wave index[(9.11±0.63)μV]and sleep period[(18.02±0.66)μV] were significantly lower than those before treatment, and the differences were statistically significant(all P<0.05). The comprehension scores[(15.62±2.55)points], FIQ scores[(106.85±2.64)points]and VIQ scores[(107.28±3.06)points]were significantly higher than those before treatment, the differences were statistically significant(all P<0.05).@*Conclusion@#Levetiracetam combined with topiramate in the treatment of refractory epilepsy syndrome has good curative effect, and is worthy of wide clinical application.

Clinical effect of levetiracetam combined with topiramate in the treatment of refractory epilepsy syndrome / 中国基层医药

Objective To observe the clinical effect of levetiracetam combined with topiramate in the treatment of children with Lennox －Gastaut syndrome ( LGS).Methods From January 2016 to August 2018, 60 cases of LGS syndrome admitted to the pediatrics department of Ganzhou People ＇s Hospital were selected The patients were divided into left ethylancetan single drug treatment group ,topiramate single drug treatment group ,and left ethylancetin combined with topiramate treatment group according to the digital table ,with 20 cases in each group. The children in the three groups were treated with the intervention of levetiracetam , topiramate and levetiracetam combined with topiramate according to the test requirements.After 8 weeks of treatment , the clinical efficacy was compared among the three groups in terms of efficacy ,cranial magnetic resonance spectrum ,eeg slow wave index and intelligence evaluation.Results The clinical effective rate (95%), NAA／Cho +Cr (0.882 ±0.107 ), NAA／Cho (1.624 ±0.088) and NAA／Cr(1.634 ±0.042) of the combined treatment group were significantly higher than those before treatment,the differences were statistically significant(all P＜0.05).The eeg slow wave index[(9.11 ±0.63)μV] and sleep period[(18.02 ±0.66)μV] were significantly lower than those before treatment ,and the differences were statistically significant(all P＜0.05).The comprehension scores [(15.62 ±2.55) points],FIQ scores[(106.85 ± 2.64)points] and VIQ scores [(107.28 ±3.06) points] were significantly higher than those before treatment , the differences were statistically significant (all P＜0.05).Conclusion Levetiracetam combined with topiramate in the treatment of refractory epilepsy syndrome has good curative effect ,and is worthy of wide clinical application.

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.

Effectiveness and Tolerability of Rufinamide in Korean Children with Lennox-Gastaut Syndrome

PURPOSE: Rufinamide (RFM) is known to be effective for children with Lennox-Gastaut syndrome (LGS). The aim of this study is to evaluate its efficacy and tolerability of Korean children with LGS. METHODS: This is a single center, open label, retrospective study. Patients with LGS who received rufinamide as adjunctive therapy were enrolled in this study. Their baseline clinical characteristics, the percent change in the seizure frequency per 4 weeks, and adverse events were evaluated. RESULTS: Among 32 children, 20 were males and the mean age was 11.3±6.6 years. After 1 month of rufinamide medication, the frequency of seizures was reduced by more than 50% in 31.3% of patients and 6.3% of patients had no seizures. After 6 months of rufinamide administration, patients with a 50% or less decrease in seizure frequency remained in a state of reduced seizure frequency and 3.1% of patients had no seizures. Side effects such as nausea, vomiting, anorexia, less active, somnolence, aggression, drooling were noted in 28.1% of patients. CONCLUSION: This study suggests that rufinamide can be considered as an effective and safe treatment option for intractable epileptic children such as LGS.

Ophthalmologic Features of Lennox-Gastaut Syndrome

PURPOSE: To describe the characteristics and frequency of ophthalmologic findings in patients with Lennox-Gastaut syndrome (LGS). METHODS: The medical records of patients diagnosed with LGS at Seoul National University Children's Hospital from January 2004 to August 2014 were retrospectively reviewed. The records of 34 patients (mean age ± standard deviation, 2.66 ± 3.51 years; male, 58.8%) were reviewed. The primary measure was the incidence of ophthalmologic manifestations. RESULTS: Of the 34 patients, 88.2% had at least one ocular abnormality. Refractive error (52.9%) was the most frequently observed ophthalmologic manifestation in patients with LGS, followed by strabismus (32.4%), cortical visual impairment (23.5%), and retinopathy of prematurity (8.8%). Among these cases, seven patients had exotropia and three had esotropia. CONCLUSIONS: LGS is a childhood-onset epileptic encephalopathy with variable ophthalmologic manifestations, the most frequent being refractive errors. Patients with suspected LGS should be examined regularly because ophthalmological features can change during their disease course.

Dental Considerations of a 4-year-old Girl with Lennox-Gastaut Syndrome. Case Report and Literature Review.

We present the developmental, oral, clinical, radiographic findings and oral treatment of a 4-year-old girl presenting with Lennox-Gastaut syndrome (LGS), which is a severe disabling childhood epilepsy disease that is treated with one or multiple anti-epileptic drugs (AEDs). The child was wheel-chair bound, developmentally delayed, gastrostomy tube (G-tube) fed, and suffered from multiple seizures and infantile spasms. The child’s medical history included an under-developed pituitary gland, gastro esophageal reflux disease, vision and hearing impairment, history of chronic aspiration pneumonia, and allergies. Although the oral findings included no carious lesions, heavy calculus accumulation, spontaneous bleeding from the gingiva, generalized gingival hyperplasia (GH) and abnormal increased mobility in several deciduous teeth. This report describes the comprehensive radiographic and clinical examination and the treatment under general anesthesia.

Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice / Desenvolvimentos recentes na genética das encefalopatias epilépticas da infância: impacto na prática clínica

Recent advances in molecular genetics led to the discovery of several genes for childhood epileptic encephalopathies (CEEs). As the knowledge about the genes associated with this group of disorders develops, it becomes evident that CEEs present a number of specific genetic characteristics, which will influence the use of molecular testing for clinical purposes. Among these, there are the presence of marked genetic heterogeneity and the high frequency of de novo mutations. Therefore, the main objectives of this review paper are to present and discuss current knowledge regarding i) new genetic findings in CEEs, ii) phenotype-genotype correlations in different forms of CEEs; and, most importantly, iii) the impact of these new findings in clinical practice. Accompanying this text we have included a comprehensive table, containing the list of genes currently known to be involved in the etiology of CEEs.

Os avanços recentes em genética molecular permitiram a descoberta de vários genes para encefalopatias epilépticas da infância (EEIs). À medida que o conhecimento sobre os genes associados a este grupo de doenças se desenvolve, torna-se evidente que as EEIs apresentam uma série de características genéticas específicas, o que influencia o uso do teste molecular para fins clínicos. Entre as EEIs, há a presença de acentuada heterogeneidade genética e alta frequência de mutações de novo. Assim, os principais objetivos deste trabalho de revisão são apresentar e discutir o conhecimento atual a respeito de i) novas descobertas em genética molecular das EEIs, ii) correlações fenótipo-genótipo nas diferentes formas de EEIs; e, mais importante, iii) o impacto desses novos achados genéticos na prática clínica. Acompanhando o texto, incluímos uma tabela contendo a lista de genes conhecidos atualmente como envolvidos na etiologia da EEIs.

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.

Rufinamide: treatment of seizures associated with Lennox–Gastaut syndrome.

Rufinamide (RUF) is FDA-approved for adjunctive management of seizures related with Lennox–Gastaut syndrome (LGS). This new anti-epileptic drug (AED) adds to the AEDs previously used for LGS together with valproic acid, lamotrigine, felbamate, and topiramate. Its mechanism of action includes preventive the excessive firing of sodium-dependent action potentials, but RUF also exhibits a broad spectrum of action in animal models. The plasma concentration of other AEDs does not change by the RUF. Dizziness, nausea, diplopia, and ataxia vomiting and somnolence are most common adverse effects taking place with RUF. Status epilepticus has been reported, but were uncommon (0.9%). A recent randomized, double-blinded, placebo-controlled trial of RUF in patients with LGS and generalized seizures, including atypical absence and tonic-atonic seizures, showed a 32.7% median percentage decreased in total seizures and a 42.5% median percentage decreased in tonic-atonic seizures. RUF also considerably decreased seizure severity. RUF has been studied as adjunctive therapy for partial seizures in adults and adolescents. In a study of three healthy volunteers, an oral dose of 600 mg RUF recognized high absorption and monoexponential elimination with a mean half-life (t½) of 9 hrs. Excretion was mainly renal (85%) and complete (98%) within 7 days.

Advances on medical management of Lennox-Gastaut syndrome / 国际儿科学杂志

Lennox-Gastaut syndrome ( LGS) is an globally recognized refractory epilepsy,also known as an age-dependent epileptic encephalopathy. It is characterized by multiple seizure types, mental retardation, and slow spike-wave complexes discharges or fast rhythmic bursts during sleep on electroencephalographic re-cordings. Many antiepileptic drugs were reported for the treatment of LGS,but it was difficult to compare their efficacy because of the small sample size and design limitations. Valproate,topiramate and lamotrigine are rec-ommended to be the first-line drugs by most guidelines or expert consensus,and the combination of valproate and lamotrigine or the combination of lamotrigine and topiramate should be preferred as early as possible for initial treatment of LGS in children. Recent progresses of medical treatment of LGS are reviewed and some optical re-gimes are proposed in this paper.

Síndrome Lennox-Gastaut. Manifestaciones odontológicas / Lennox-Gastaut Syndrome. Dental manifestation

El síndrome de Lennox-Gastaut (LG) es una encefalopatía epileptiforme de la infancia caracterizado por convulsiones frecuentes e intratables, retraso mental y electroencefalograma característico. Supone entre el 5-10% de los desórdenes convulsivos de la infancia y es más frecuente en varones. Se presenta el caso de un niño de 7 años y 11 meses de edad con xerostomía por ingesta de medicamentos, y secundariamente aumento de caries, piezas desgastadas por el bruxismo y cicatrices en lengua y mucosa labial como secuela del trauma durante la crisis.

The Lennox-Gastaut syndrome (LG) is an epileptic encephalopathy of childhood characterized by frequent intractable seizures, mental retardation and characteristic electroencephalogram. It accounts for 5-10% of convulsive disorders of childhood and is more common in male children. We report the case of 7 years 11 months old child with xerostomia by drug intake, increased secondary caries, bruxism and worn dental parts, scars of the tongue and labial mucosa in the aftermath of trauma during the crisis.

Estimulador de nervo vago em paciente com síndrome de Lennox-Gastaut: relato de caso / Vagus nerve stimulator in a patient with Lennox-Gastaut syndrome: case report

A Síndrome de Lennox-Gastaut (SLG) é uma encefalopatia epiléptica grave da infância caracterizada por múltiplos tipos de crises intratáveis, anormalidades cognitivas e comportamentais e alterações eletroencefalográficas características. Na grande maioria dos casos as crises se tornam refratárias mesmo com politerapia, sendo indicado tratamentos alternativos. O uso de calosotomia é descrito para ajudar no controle das crises, entretanto novas terapias como o estimulador de nervo vago (ENV) começaram a ser utilizadas. Neste caso, relatamos um paciente com SLG, que apesar das drogas antiepilépticas apresentava crises diárias, que foi submetido a ENV, com redução das crises. Discutimos o tratamento não farmacológico da SLG, comparando a calosotomia com ENV...

The Lennox-Gastaut Syndrome (LGS) is a severe childhood epileptic encephalopathy characterized by multiple types of intractable seizures, cognitive and behavioral abnormalities and specific electroencephalographic features. Most patients are refractory even with polytherapy, so alternative treatment is indicated. Callosotomy is indicated in these cases, however vagus nerve stimulator (VNS) is a less invasive option. This is a case report of a patient with LGS, which despite antiepileptic drugs had daily seizures, who underwent VNS, with reduction of seizures. We discuss the nonpharmacological treatment of LGS, comparing the callosotomy with VNS...

Anesthetic management of a patient with Lennox-Gastaut syndrome with intractable epilepsy: a case report / 대한마취과학회지

A 34-month-old female patient who had a prior history of generalized tonic-clonic seizures had been diagnosed with the Lennox-Gastuat syndrome. She was scheduled for epiblepharon repairs in both lower lids under general anesthesia. Preoperatively, her tonic seizure was poorly controlled with antiepileptic drugs. General anesthesia with thiopental and isoflurane was provided and the intraoperative course and the emergence of anesthesia were uneventful and smooth.

Caracterización etiológica del síndrome de Lennox-Gastaut sintomático / Etiological characterization of the symptomatic Lennox-Gastaut syndrome

Introducción: el síndrome de Lennox-Gastaut es una encefalopatía epiléptica dependiente de la edad, de gran severidad, por su farmacorresistencia y las discapacidades asociadas. Objetivos: caracterizar el síndrome de Lennox-Gastaut sintomático según sexo, edad de inicio y diagnóstico, tipo de crisis predominantes, hallazgos en neuroimagen y etiología. Métodos: estudio descriptivo, retrospectivo con una muestra de 36 pacientes egresados del servicio de neuropediatría del Hospital Pediátrico "Juan M. Márquez", con diagnóstico de síndrome de Lennox-Gastaut sintomático y que tuvieran estudios de neuroimagen (tomografía axial computarizada y resonancia magnética nuclear). Las variables cualitativas se describieron estadísticamente mediante frecuencias absolutas y cifras porcentuales. Para los porcentajes de interés, se calculó su intervalo de confianza con el 95 % de confiabilidad (IC 95 %). Resultados y conclusiones: el síndrome de Lennox-Gastaut sintomático fue más frecuente en varones, que comenzaron con epilepsia antes del año de edad, el 33 % presentó síndrome de West. Más del 60 % se diagnosticó antes de los 4 años de edad. Las crisis más frecuentes fueron las tónicas y atónicas de cuello. La tomografía axial computarizada permite localizar zonas de atrofia y pocas lesiones estructurales, que se precisan por resonancia magnética nuclear como alteraciones de la migración neuronal. Después de las malformaciones del sistema nervioso central, la causa más frecuente fue la hipoxia perinatal.

Introduction: the Lennox-Gastaut syndrome is an age-dependent epileptic encephalopathy very severe due to its drug-resistance and the associated inabilities. Objectives: to characterize the symptomatic Lennox-Gastaut syndrome, according to sex, onset age and diagnosis, type of predominant crises, findings in neuroimage and etiology. Methods: a retrospective and descriptive study was conducted in 36 patients discharged from the neuropediatric service of the "Juan Manuel Márquez" Children Hospital diagnosed with symptomatic Lennox-Gastaut syndrome and underwent neuroimage studies (computerized axial tomography and nuclear magnetic resonance). Qualitative variables were statistically described by means of absolute frequencies and percentage figures. For interesting percentages, its 95 % confidence interval (CI) was estimated (95 % CI). Results and conclusions: the symptomatic Lennox-Gastaut syndrome was more frequent in males starting with epilepsy before one year old. The 33 % had West's syndrome. More than 60 % was diagnosed before the four years old. The more frequent crises were the tonic and atonic ones of neck. The CAT allows locating zones of atrophy and few structural lesions signaled b y nuclear magnetic resonance (NMR) as alterations of neuronal migration. After the central nervous system (CNS) malformations, the more frequent cause was the perinatal hypoxia.

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.