Afasias adquiridas: síndrome de Landau-Kleffner y otros / No disponible

Objetivo. Presentar las características clínicas-EEG del síndrome de Landau-Kleffner (SLK) o afasia epilépticaadquirida, discutir sus aspectos etiopatogénicos y sus relaciones con la epilepsia rolándica y la epilepsia con punta onda continuadurante el sueño lento (EPOCSL), y establecer el diagnóstico diferencial con otras afasias adquiridas y trastornos delespectro autista (TEA). Desarrollo y conclusiones. El SLK es un síndrome epiléptico raro con fenotipo clínico-EEG bien establecido–agnosia auditiva con crisis epilépticas, en un alto porcentaje, de buen pronóstico, otros trastornos neuropsicológicos,y EEG con punta onda continua en sueño lento (POCSL)– y una etiopatogenia no bien delimitada. La mayoría de loscasos son criptogénicos y en pocos casos se han encontrado agentes causales diversos, destacando entre ellos microdisgenesiascorticales. La afasia de recepción está originada por las POCSL que ocurren en periodos críticos de la maduración cerebral,durante la sinaptogénesis cortical bitemporal, cuando se establecen los circuitos funcionales elementales lingüísticos.Es probable que haya un factor genético implicado que, activado por factores medioambientales, desencadene el síndrome. ElSLK se relaciona por la edad de comienzo, anomalías del EEG intercrítico y activación por el sueño con otros síndromes que,a veces, se solapan entre ellos, como la epilepsia rolándica y la EPOCSL, con los cuales constituyen un continuo neurobiológicocuya expresión clínica neuropsicológica se relaciona con el punto de partida de las descargas, y la gravedad, con la activaciónen sueño. En el diagnóstico diferencial con otras afasias adquiridas y TEA, aparte de matices clínicos, a veces claros,los hallazgos del EEG en sueño son definitivos. El tratamiento incluye fármacos antiepilépticos y/o corticoides, apoyo psicopedagógicoy, en ocasiones, cirugía

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[Severe myoclonic epilepsy in infancy (Dravet's syndrome). Its nosological characteristics and therapeutic aspects]. / Epilepsia mioclónica grave de la infancia (síndrome de Dravet). Ubicación nosológica y aspectos terapéuticos.

AIMS: Severe myoclonic epilepsy in infancy (SMEI) is an epileptic syndrome recognised by the ICE of 1985 and 1989 and in the proposal put forward by the ILAE Task Force on Classification and Terminology in 2001. In this paper, its historical development, nosological characteristics and treatment are described. DEVELOPMENT: Although identified by Dravet in 1978, it has been called severe myoclonic epilepsy in infancy since 1981. As an alternative the name polymorphic epilepsy has also been put forward and in 2001 the ILAE recognised the eponym Dravet's syndrome. We describe how it may be mistaken for febrile convulsions in the early stages and later for Lennox Gastaut syndrome, Doose's myoclonic astatic epilepsy and certain progressive myoclonic epilepsies. We outline the risk factors, recognised in 1992, that facilitate an early diagnosis and the defining clinical criteria established in 1984. We point out the existence of atypical forms due to the absence of some of the defining criteria, which will never be above one, to formulate a diagnosis of SMEI. The frequency with which a family background of febrile convulsions and epilepsy appears seems to point to a genetic origin. Recently, de novo mutations have been found in the alpha subunit of the voltage dependent sodium channel as well as mutations in the gamma subunit of the GABAA receptor. Nosologically, it is located in group 3 of the 1989 ICE, which corresponds to epileptic syndromes without a focal determination, or which are generalised, and on the list of epilepsy/syndromes that was presented in 2001. SMEI is an epilepsy syndrome which is, in most cases, resistant to classical and new AED, and other more unusual treatment. The drugs that have proved to be more effective, although only relatively so, are topiramate, valproate and the benzodiazepines. At present another alternative that has appeared is stiripentol. Intravenous use of immunoglobulins can be useful. CONCLUSIONS: Dravet's syndrome, admitted as such by the ILAE in 2001 and probably caused by de novo mutations in the sodium channels or in the GABAA receptors, is one of the severest forms of epilepsy in infancy with very little or no response to current antiepileptic drugs. Those that have been seen to be most effective are topiramate, the benzodiazepines, valproate and, more recently, stiripentol.

Epilepsia mioclónica grave de la infancia (síndrome de Dravet). Ubicación nosológica y aspectos terapéuticos / Severe myoclonic epilepsy in infancy (dravet's syndrome). Its nosological characteristics and therapeutic aspects

Objetivo. La epilepsia mioclónica grave de la infancia (EMGI) es un síndrome epiléptico reconocido en las ICE de 1985 y 1989 y en la propuesta del Grupo de Trabajo de Clasificación y Terminología de la ILAE en 2001. Se describe su desarrollo histórico, ubicación nosológica y tratamiento. Desarrollo. Identificado por Dravet en 1978, se denomina epilepsia mioclónica grave de la infancia en 1981; se propone, como alternativa, la denominación de epilepsia polimorfa, y se reconoce con el epónimo de síndrome de Dravet por la ILAE en 2001. Se señala su posible confusión inicial con las convulsiones febriles y, posteriormente, con el síndrome de Lennox-Gastaut, la epilepsia mioclonicoastática de Doose y algunas epilepsias mioclónicas progresivas. Se exponen los factores de riesgo, que facilitan un diagnóstico precoz, reconocidos en 1992, y los criterios clínicos de definición establecidos en 1984. Se señala la existencia de formas atípicas por la ausencia de algunos de los criterios de definición, que nunca serán superiores a uno para formular el diagnóstico de EMGI. La frecuencia de antecedentes familiares de convulsiones febriles y epilepsia sugieren un origen genético; se han encontrado recientemente mutaciones de novo en la subunidad a del canal de sodio dependiente de voltaje, y también en la subunidad g del receptor GABAA. Nosológicamente, se ubica en el grupo 3 de la ICE de 1989, que corresponde a los síndromes epilépticos sin determinación focal o generalizada, y en la lista de epilepsia/síndromes que se presentó en 2001. La EMGI es un síndrome epiléptico refractario, en la mayoria de los casos, a los fármacos antiepilépticos clásicos, a los nuevos y a otras terapéuticas no habituales. Los fármacos que han mostrado una mayor eficacia, siempre relativa, han sido el topiramato, el valproato y las benzodiacepinas. Actualmente surge como alternativa el estiripentol. Las inmunoglobulinas por vía endovenosa pueden ser útiles. Conclusiones. El síndrome de Dravet, admitido como tal por la ILAE en el 2001, de muy probable origen genético por mutaciones de novo en los canales de sodio o en los receptores GABAA, es una de las epilepsias más graves de la infancia, con escasa o nula respuesta a los fármacos antiepilépticos actuales. Los que han mostrado una relativa mayor eficacia son el topiramato, las benzodiacepinas, el valproato y, recientemente, el estiripentol (AU)

Aims. Severe myoclonic epilepsy in infancy (SMEI) is an epileptic syndrome recognised by the ICE of 1985 and 1989 and in the proposal put forward by the ILAE Task Force on Classification and Terminology in 2001. In this paper, its historical development, nosological characteristics and treatment are described. Development. Although identified by Dravet in 1978, it has been called severe myoclonic epilepsy in infancy since 1981. As an alternative the name polymorphic epilepsy has also been put forward and in 2001 the ILAE recognised the eponym Dravet’s syndrome. We describe how it may be mistaken for febrile convulsions in the early stages and later for Lennox-Gastaut syndrome, Doose’s myoclonic-astatic epilepsy and certain progressive myoclonic epilepsies. We outline the risk factors, recognised in 1992, that facilitate an early diagnosis and the defining clinical criteria established in 1984. We point out the existence of atypical forms due to the absence of some of the defining criteria, which will never be above one, to formulate a diagnosis of SMEI. The frequency with which a family background of febrile convulsions and epilepsy appears seems to point to a genetic origin. Recently, de novo mutations have been found in the alpha subunit of the voltage-dependent sodium channel as well as mutations in the gamma subunit of the GABAA receptor. Nosologically, it is located in group 3 of the 1989 ICE, which corresponds to epileptic syndromes without a focal determination, or which are generalised, and on the list of epilepsy/syndromes that was presented in 2001. SMEI is an epilepsy syndrome which is, in most cases, resistant to classical and new AED, and other more unusual treatment. The drugs that have proved to be more effective, although only relatively so, are topiramate, valproate and the benzodiazepines. At present another alternative that has appeared is stiripentol. Intravenous use of immunoglobulins can be useful. Conclusions. Dravet’s syndrome, admitted as such by the ILAE in 2001 and probably caused by de novo mutations in the sodium channels or in the GABAA receptors, is one of the severest forms of epilepsy in infancy with very little or no response to current antiepileptic drugs. Those that have been seen to be most effective are topiramate, the benzodiazepines, valproate and, more recently, stiripentol (AU)

[Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO syndrome). A case report]. / Encefalopatía progresiva con edema, hipsarritmia y atrofia óptica (síndrome PEHO). Aportacion de un caso.

INTRODUCTION: Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO syndrome) is a pathological process that begins in the first months of life and quickly leads to a very serious encephalopathy. We report the case of an infant suffering from PEHO syndrome and discuss its pathogenesis. CASE REPORT: A 4 year old male, the son of parents who were not blood related, with no pre or perinatal background of interest, who, from the first month, was seen to have a moderate retardation in psychomotor development and generalised hypotonia. These clinical signs increased progressively over the next months. From the age of 6 months onwards infantile spasms were observed, together with an EEG displaying hypsarrhythmic characteristics, slight facial oedema as well as in the hands, abnormal ocular movements and loss of vision with optic atrophy. In the neuroimaging serial studies, MRI showed a progressive atrophy of the brain stem and the cerebellum associated with cortical atrophy, hypoplasia of the corpus callosum and retarded myelination. CONCLUSIONS: Diagnosis of PEHO syndrome is essentially clinical with the help of neuroimaging, since there is no biological or genetic marker. The case described fulfils the criteria required for diagnosis of PEHO syndrome. The existence of cases in the family suggests that PEHO syndrome is due to a genetically based neurodevelopmental disorder. To our knowledge this is the first case reported in Spain.

Encefalopatía progresiva con edema, hipsarritmia y atrofia óptica (síndrome PEHO). Aportación de un caso / Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO syndrome). A case report

Introducción. La encefalopatía progresiva con edema, hipsarritmia y atrofia óptica (síndrome PEHO) es un proceso patológico que se inicia en los primeros meses de la vida y conduce rápidamente a una encefalopatía muy grave. Se aporta el caso de un niño afectado de un síndrome PEHO y se discute su patogenia. Caso clínico. Varón de 4 años de edad, hijo de padres no consanguíneos, sin antecedentes prenatales y perinatales de interés, en el que se aprecia desde el primer mes un leve retraso en el desarrollo psicomotor e hipotonía generalizada, signos clínicos que se incrementan progresivamente en los meses siguientes. A partir de los 6 meses se observan espasmos infantiles, EEG de características hipsarrítmicas, ligero edema facial y de manos, movimientos oculares anormales y pérdida de visión con atrofia óptica. En los estudios seriados de neuroimagen, la RM muestra una atrofia progresiva del tronco cerebral y el cerebelo asociada a atrofia cortical, hipoplasia del cuerpo calloso y retraso en la mielinización. Conclusiones. El diagnóstico del síndrome PEHO es esencialmente clínico y de neuroimagen, ya que no existe ningún marcador biológico o genético. El caso presentado reúne los criterios exigibles para diagnosticarse de síndrome PEHO. La existencia de casos familiares sugiere que el síndrome PEHO se debe a un trastorno del neurodesarrollo de base genética.Según nuestro conocimiento, es el primer caso aportado en España (AU)

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[Clinical phenotypes of classic Rett syndrome]. / Fenotipos clínicos del síndrome de Rett clásico.

INTRODUCTION: Rett syndrome (RS) is a progressive neurological disorder that is diagnosed by essential, supportive and exclusion clinical criteria, and development takes place in four stages. It has been shown to be caused by de novo mutations of a gene located in the long arm of the dominant X chromosome that codes for the methyl CpG binding protein (MECP2). It has been observed that girls with classic RS (CRS) present distinguishing nuances with respect to the age of onset of the different criteria and as regards the progression of the disorder. Taking the ability or failure to walk as a reference, we have established three phenotypes. METHOD: Phenotype I. Ambulant CRS, which corresponds to a permanent stage III, or a stage III that lasts a long time before going into stage IV. The loss of the ability to use the hands in a purposeful way takes place at the age of 25.6 months, social withdrawal at 25.4 months, language impairment at 20 months, stereotypic hand movements at 22.8 months and signs of spasticity appear around the age of 8-10 years. Phenotype II. Ambulant CRS. Transitory, which corresponds to an early stage IV-A. The first signs of abnormality appear around the age of 9-10 months. This is followed by the loss of the purposeful use of the hands towards the age of 23.4 months, social withdrawal around 21.4 months, language impairment at 20 months, stereotypic hand movements at 25.2 months and scoliosis, neuromotor disorders and trophic and vasomotor disorders at the age of 4-5 years. Phenotype III. Non ambulant CRS, which corresponds to stage IV-B. It begins with hypotonia towards the age of 5-6 months, loss of voluntary grasping at 17.8 months, social withdrawal at 18 months, language impairment at the age of 12 months, stereotypic hand movements at 13 months and early onset of motor, trophic and vasomotor disorders. Genetic studies were conducted in 12 girls and MECP2 gene mutations were found in 10 of them, belonging to the three different phenotypes. CONCLUSIONS: We have established three phenotypes in RS according to the ability to walk. If walking is not achieved or the ability is lost early on, speech loss, social withdrawal and the onset of stereotypic movements, motor, trophic and vasomotor disorders all progress more quickly. Mutations in the MECP2 gene have been found in the three phenotypes. In 16.6% the genotype was normal. Greater accuracy is required in the definition of cases of CRS in order to establish phenotype genotype correlations.

[Broad clinical and prognostic spectrum of the Rolandic epilepsies. Typical forms]. / Amplio espectro clínico y pronóstico de las epilepsias rolándicas. Formas típicas.

OBJECTIVE: We reviewed studies on Rolandic epilepsies (ER) and analyzed them according to definite criteria to establish the typical clinical and electroencephalographic phenotypes and therapeutic strategy to be used. DEVELOPMENT: The criteria for definition leave gaps which permit inclusion, as typical forms of ER, variant forms or syndromes related to ER. Clinical phenotypes: 1) Classical phenotypes with senso motor, phonatory or autonomic seizures; 2) Benign partial state which is rarely seen; 3) ER with cognitive involvement usually of attention, reading, auditory verbal learning, semantic fluency and visuomotor coordination; 4) Idiopathic ER with interictal facial myoclonus; and 5) Other phenotypes include ER coinciding with a pre existing cerebral disorder and transient EPOCS of iatrogenic origin. EEG phenotypes: 1) Classical EEG with unilateral or bilateral, synchronous or asynchronous Rolandic paroxysms; 2) Phenotypes with generalized PO; 3) Phenotype with centroparietal slow waves, rare and usually transient. The various authors do not agree as to whether treatment should be recommended although in the studies we consulted there was a high proportion of ER and it was recognized that the risk of inducing EPOCS on treatment was low. CONCLUSIONS: Analysis of the literature of typical forms of ER shows that apart from the classical form there is a continuous range of epileptic dysfunction, both clinical and of EEG, which includes the related variant forms and syndromes, although the long term prognosis of all is good, some with and some without treatment

[Clinical, neuro-radiological and prognostic aspects of post-encephalitic catastrophic epilepsies]. / Aspectos clínicos, neurorradiológicos y evolutivos de las epilepsias catastróficas postencefalíticas.

OBJECTIVE: To determine the prevalence of encephalitis and meningo encephalitis as the causative agents of catastrophic epilepsies (CE) and the incidence of post encephalitic CE, when catastrophic epilepsy is defined as often refractory to treatment and always associated with psychoneurological deterioration. PATIENTS AND METHODS: The prevalence of central nervous system (CNS) infections in determining West s syndrome (WS), Lennox Gastaut syndrome (LGS) and HHE syndrome (HHES) was detected in the large series published since 1980 in which the cause was stated. The incidence of CE in the course of meningoencephalitis was deduced from three studies done in the Virgen del Roc o Hospital: study 1 of 1,221 children admitted to hospital with the diagnosis of meningo encephalitis; study 2 of 55 cases of tuberculous meningitis; study 3 of 30 cases of encephalitis. RESULTS: CNS infections causing CE are responsible for from 3 to 11% of all WS, 3 to 8.2% of all LGS and 19% of the HHES with a catastrophic course. The commonest causes are infection due to cytomegalovirus and toxoplasmosis during the prenatal stage and the purulent meningitis, tuberculous meningitis and herpetic encephalitis during the neonatal and postnatal periods. The evidence of CE in meningo encephalitis varies according to the germ, age and severity of the aggression. CNS infections during the neonatal period in 3% of cases cause CE. In babies, newborn and subsequently, tuberculous meningitis (12.7%), measles meningo encephalitis (22%) and herpetic encephalitis (50%) lead to refractory epileptic seizures and very severe psychoneurological deterioration. CONCLUSIONS: 1. Encephalitis and meningo encephalitis are commoner than usually thought as a cause of CE. 2. They cause 3 11% of the WS, 3 8% of the LGS and 19% of the HHES. 3. The incidence of CE in the course of meningo encephalitis varies according to the germ involved and the severity of the aggression. 4. CE are very frequent during the course of herpetic encephalitis, measles meningo encephalitis and tuberculous meningo encephalitis. The latter two are becoming much less common. 5. The prognosis is extremely serious

[Characteristics and indications of topiramate]. / Características e indicaciones del topiramato.

AIM: To evaluate the efficiency of topiramate (TPM), an antiepileptic medication (AEM) which possesses multiple mechanisms of action and good pharmacokinetics, in the different types of childhood epilepsy and to make an appraisal of its value in migraines, bipolar disorder, eating disorders and neuropathic pain, according to studies that have been published. To do so, we have made use of an analysis of the literature, together with a multi centre study conducted in Spain and personal casuistry. METHOD: We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, generalized tonic clonic seizures, absence seizures, tonic seizures, patients with diverse types of seizures, juvenile myoclonic epilepsy, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome. With monotherapy, in partial epilepsy, between 39 and 54% of patients treated were seizure free. TPM has also proved to be efficient in experiments with animals, as a neuroprotector, and in clinical trials, in type I bipolar disorder, eating disorders, neuropathic pain and migraine. CONCLUSIONS: TPM is an AEM offering a wide therapeutic spectrum that has proved to be efficient in clinical trials, expansion phases and observational studies, as an associated drug in partial epilepsy, generalized epilepsy, Lennox Gastaut syndrome, West s syndrome and Dravet s syndrome. It has proved to be more efficient in monotherapy, in partial epilepsy, as a first line AEM. TPM has also proved to be useful in mood disorders, eating disorders, neuropathic pain and tremor in observational studies, although this efficiency has not been backed up by clinical trials. In migraine and in clinical trials TPM has shown its efficiency. Its neuroprotective effect opens up new therapeutic perspectives.

Características e indicaciones del topiramato / Characteristics and indications of topiramate

Objetivo. Valorar la eficacia del topiramato (TPM), fár-maco antiepiléptico (FAE) dotado de múltiples mecanismos de acción y buena farmacocinética, en los diferentes tipos de epilepsia infantil, en base al análisis de la literatura, a un estudio multicéntrico español y a la casuística personal, y valorar su utilidad en migraña, trastorno bipolar, trastornos de la conducta alimentaria y dolor neuropático según los estudios publicados. Desarrollo. Se considera el porcentaje libre de crisis y de respondedores (disminución del 50 por ciento o más en la frecuencia de las crisis) en epilepsia infantil, epilepsias parciales, epilepsias tónico clónicas generalizadas, epilepsias ausencias, crisis tónicas, pacientes con varios tipos de crisis, epilepsia mioclónica juvenil, síndrome de Lennox-Gastaut, crisis de caídas y CTCG, síndrome de West y síndrome de Dravet. En monoterapia, en epilepsia parcial, están libres de crisis entre el 39 y el 54 por ciento de pacientes tratados. El TPM ha mostrado también su eficacia en experimentación animal, como neuroprotector, y en clínica, en el trastorno bipolar tipo I, trastornos de la conducta alimentaria, dolor neuropático y migraña. Conclusiones. El TPM es un FAE de amplio espectro terapéutico que ha mostrado su eficacia en ensayos clínicos, fases de ex-tensión y estudios observacionales, como fármaco asociado, en epilepsias parciales, epilepsias generalizadas, síndrome de Lennox-Gastaut, síndrome de West y síndrome de Dravet, y ha mostrado mayor eficacia en monoterapia, en epilepsias parciales, como FAE de primera elección. El TPM ha mostrado también ser útil en los trastornos del humor, trastornos de la conducta alimentaria, dolor neuropático y temblor en estudios observacionales, aunque esta eficacia no se ha contrastado con ensayos clínicos. En migraña y en ensayos clínicos, el TPM ha mostrado su eficacia. Su efecto neuroprotector abre nuevas perspectivas terapéuticas (AU)

Aspectos clínicos, neurorradiológicos y evolutivosde las epilepsias catastróficas postencefalíticas / Clinical, neuro-radiological and prognostic aspects of post-encephalitic catastrophic epilepsies

Objetivo. Determinar la prevalencia de las encefalitis y meningoencefalitis como agentes causales de las epilepsias catastróficas (EC) y la incidencia de las EC postencefalíticas, considerando como catastrófica una epilepsia con frecuencia refractaria y siempre con deterioro psiconeurológico. Pacientes y métodos. La prevalencia de las infecciones del SNC en el determinismo del SW, SLG y SHHE se extrae de las grandes casuísticas publicadas desde 1.980 con especificación del agente causal. La incidencia de las EC en la evolución de las meningo -encefalitis se deduce de 3 estudios realizados en el HI Virgen del Rocío: estudio 1, de 1221 niños ingresados con el diagnóstico de meningoencefalitis; estudio 2, de 55 casos de meningitis tbc; estudio 3, de 30 casos de encefalitis. Resultados. Las infecciones del SNC como causa de EC son responsables del 3 al 11 por ciento del total de los SW, del 3 al 8.2 por ciento del total de los SLG y del 19 por ciento de los SHHE de evolución catastrófica. Los agentes causales mas implicados son la infección por citomegalovirus y toxoplasmosis en el período prenatal, y las meningitis purulentas, meningitis TBC y encefalitis herpética en el período neonatal y posnatal. La incidencia de EC en las meningo encefalitis varia en función del germen, edad y gravedad de la agresión. En las infecciones del SNC en el período neonatal el 3 por ciento va a cursar con EC. En la lactancia e infancia la meningitis tbc (12.7 por ciento), la meningoencefalitis sarampionosa (22 por ciento) y encefalitis herpética (50 por ciento) cursan con crisis epilépticas refractarias y muy grave deterioro psiconeurológico. Conclusiones. 1. Las encefalitis y meningoencefalitis son mas frecuentes de lo que habitualmente se cree como agentes causales de EC. 2. Son responsables del 3 al 11 por ciento de los SW, del 3 -8 por ciento de los SLG y del 19 por ciento de los SHHE. 3.La incidencia de las EC en la evolución de las meningoencefalitis es variable en función del germen y severidad de la agresión. 4. Las EC son muy frecuentes en la evolución de las encefalitis herpética, meningoencefalitis sarampionosa y meningoencefalitis tuberculosa, las dos últimas en franca regresión. 5. El pronóstico es especialmente grave (AU)

Amplio espectro clínico y pronóstico de las epilepsias rolándicas.Formas típicas / Broad clinical and prognostic spectrum of the rolandic epilepsies. Typical forms

Objetivo. Se han revisado los estudios realizados sobre las epilepsias rolándicas (ER), analizados con arreglo a los criterios de definición fijados, para establecer, dentro de las formas consideradas típicas, fenotipos clínicos, fenotipos electroencefalográficos y la estrategia terapéutica a seguir. Desarrollo. Los criterios de definición dejan resquicios que permiten incluir, como formas típicas de ER, variantes o síndromes relacionados con éstas. Fenotipos clínicos: 1) Fenotipos clásicos, que cursan con las crisis sensitivomotoras, fonatorias o autonómicas; 2) Estado parcial benigno, excepcional en su presentación; 3) ER con afectación cognitiva, que implican preferentemente la atención, la lectura, el aprendizaje verbal auditivo, la fluencia semántica y la coordinación visuomotora; 4) ER idiopática con mioclonía facial interictal; y 5) Otros fenotipos, que incluyen ER coincidente con patología cerebral preexistente y EPOCS transitoria de origen yatrogénico. Fenotipos EEG: 1) EEG clásico con paroxismos rolándicos uni o bilaterales síncronos o asíncronos; 2) Fenotipo con PO generalizados; y 3) Fenotipo con ondas lentas centroparietales, raro y habitualmente transitorio. Existe discordancia entre los autores al aconsejar o no tratamiento, aunque en los estudios consultados se tratan un alto porcentaje de ER y se reconoce el pequeño riesgo de inducir EPOCS con la medicación. Conclusiones. El análisis de la bibliografía acerca de las formas típicas de ER evidencia que, además de la forma clásica, existe un continuo de disfunciones epilépticas, tanto clínicas como EEG, que solapan las formas variantes y síndromes relacionados, aunque el pronóstico a largo plazo es favorable en todas, sin (en algunas) o con tratamiento (AU)

[Reflections on international classification of epilepsies and epileptic syndromes and proposed diagnostic scheme ILAE task force]. / Reflexiones sobre la clasificación internacional de epilepsias y síndromes epilépticos y el esquema diagn stico propuesto por un grupo de trabajo de la ILAE.

INTRODUCTION: The International Classification of epilepsies and epileptic syndromes, proposed in 1989, have proven to be of considerable value and suministered a universal vocabulary for physicians. The use have identified also some disadvantages and the rapid advances in neuroimage and molecular genetics has become clear that reappraisal is needed. DEVELOPMENT: An ILAE Task Force on Classification and Terminology is proposing a diagnostic scheme that makes use of standardized terminology and concepts to describe individual patients. The proposal include several definitive changes and terminology very logic but there is some new concepts that is not properly clear. The diagnostic scheme is made of flexible and dynamic modules. It consist of five level o axes: ictal phenomenology, seizure type, syndrome, etiology and impairement. It is lacking on axis about age at onset that is very important in some epileptic syndromes. The syndromic diagnosis is derived from a list of accepted epilepsy syndromes and of the syndromes are still in development, although no contain some syndromes of recent description. Finally it is proposed an example of a classification of epilepsy syndromes, grouping the syndromes according to age at onset and etiology.

[Anhidrosis and hyperthermia associated with treatment with topiramate]. / Anhidrosis e hipertermia asociadas al tratamiento con topiramato.

INTRODUCTION: It has been observed that if topiramate (TPM) is given together with other antiepileptic drugs when the temperature of the environment is high, a disorder involving sweating and thermo regulation may be seen as a side effect. PATIENTS AND METHODS: We describe ten patients, of an average age of 7 years and 8 months, with refractory epileptic seizures. All were treated with topiramate, associated with the antiepileptic drugs they had been taking previously. During the summer months, when the environmental temperature was over 37 C, they had slight hyperthermia, hypohydrosis or more usually anhydrosis, red faces and tiredness which was markedly worse on effort. In one case there was also retention of urine and four others had known side effects. In seven patients the symptoms disappeared when the dose of TPM was reduced or the environment became cooler. In the other three cases TPM was withdrawn, due to the severe adverse effects seen in two cases and for being ineffective as treatment in the other cases. CONCLUSIONS: It is considered that in predisposed children, TPM causes autonomic dysfunction, probably of central origin, which is seen as a disorder of sweating and thermoregulation. Although the mechanism of this disorder is not known, since it occurs when the temperature is over 37 C, it would seem that it is due to a reduction in carbonic anhydrase isoenzymes II and IV. We suggest that it would be useful to establish a method to predict the patients at risk in summer, in hot regions, at the first sign of fatigability.

Reflexiones sobre la clasificación internacional de epilepsias y síndromes epilépticos y el esquema diagnóstico propuesto por un grupo de trabajo de la ILAE / Reflections on international classification of epilepsies and epileptic syndromes and proposed diagnostic scheme ilae task force

Introducción. La clasificación internacional de epilepsias y síndromes epilépticos propuesta en 1989 ha sido de considerable valor y ha suministrado un vocabulario común a los médicos interesados. Su uso también ha puesto de manifiesto algunas carencias, y los rápidos avances en neuroimagen y genética molecular han mostrado la necesidad de una revisión. Desarrollo. Un grupo de trabajo, de la ILAE, sobre clasificación y terminología propone un esquema diagnóstico que se basa en el uso de conceptos y terminología de aceptación general para describir pacientes individuales. Lo propuesto incluye varios cambios definitivos en conceptos y terminología muy lógicos, aunque hay algunos de los nuevos conceptos que no están suficientemente claros. El esquema diagnóstico está formado por módulos flexibles y dinámicos, y consiste en cinco niveles o ejes: fenomenología ictal, tipo de crisis, síndrome, etiología y afectación. Se echa de menos un eje sobre la edad de comienzo que es muy importante en algunos síndromes epilépticos. El diagnóstico sindrómico se establece en una lista de síndromes/epilepsias aceptados y de síndromes que están todavía en desarrollo, y no contempla algunos síndromes de reciente descripción. Por último, se propone un ejemplo de clasificación de síndromes/epilepsia, y se agrupan los síndromes en relación con la edad y etiología (AU)

Anhidrosis e hipertermia asociadas al tratamiento con topiramato / Anhydrosis and hyperthermia associated with treatment with topiramate

Introducción. Se ha observado que el tratamiento con topiramato (TPM) añadido a otros fármacos antiepilépticos, cuando la temperatura ambiental es alta, produce un trastorno de la sudación y termorregulación como efecto adverso. Pacientes y métodos. En 10 pacientes, con edad media de 7 años y 8 meses, afectos de crisis epilépticas refractarias y en tratamiento con TPM combinado con los fármacos que tomaba con anterioridad, durante los meses de verano, cuando la temperatura ambiental sobrepasa los 37 ºC, se ha presentado leve hipertermia, hipo o habitualmente anhidrosis, nrojecimiento facial y cansancio que se acentúa sensiblemente con el esfuerzo. En un caso se ha asociado a retención de orina y en otros cuatro a efectos adversos ya conocidos. En siete pacientes, los síntomas desaparecieron al disminuir la dosis de TPM o al bajar la temperatura ambiental. En otros tres casos se suspendió TPM, por la gravedad de los efectos adversos en dos, y en otro, por ineficacia terapéutica. Conclusiones. Se estima que el TPM produce en niños predispuestos una disfunción autonómica, de probable origen central, que se expresa por un trastorno de la sudación y termorregulación. Aunque el mecanismo de producción de este trastorno se desconoce, el hecho de que aparezca a partir de los 37 ºC sugiere que se deba a la disminución de las isoenzimas II y IV de la anhidrasa carbónica. Se sugiere la conveniencia de establecer un método para predecir los pacientes de riesgo en verano, en regiones calurosas, al menor signo de fatiga (AU)

A comparison of monotherapy with lamotrigine or carbamazepine in patients with newly diagnosed partial epilepsy.

Monotherapy with lamotrigine or carbamazepine was evaluated in a multicentre open trial of patients aged 2 years and above with newly diagnosed partial epilepsy. A total of 417 patients were randomised to treatment with lamotrigine, while 201 patients received carbamazepine. Following a dose escalation period of 6 weeks, maintenance therapy (Weeks 7-24) was adjusted according to response. Efficacy was similar with both treatments (65% with lamotrigine, 73% with carbamazepine, P=0.085). Efficacy was assessed by the proportion of patients seizure free during the last 16 weeks of treatment; all subjects who remained in the study for at least 18 weeks after the week 4 visit were included in the analysis. More patients receiving lamotrigine completed the study (81%), compared with those receiving carbamazepine (77%). This difference was primarily due to discontinuation as a result of adverse events, reported by 34 (8%) of those treated with lamotrigine but 26 (13%) of those treated with carbamazepine. The proportion of patients who experienced adverse events in the lamotrigine group was lower (218 patients, 52%) compared with the carbamazepine group (120 patients, 60%). The proportion of patients with adverse events considered to be drug related was lower in the lamotrigine group (132 patients, 32%) compared with the carbamazepine group (83 patients, 41%). Somnolence was the only adverse event reported at an incidence of greater than 5% and where there was a difference of 5% or more between treatment groups (4% lamotrigine, 11% carbamazepine patients). The small subsets of elderly patients (aged 65 years or over) and paediatric patients (aged 2-12 years) also showed better tolerability to lamotrigine than to carbamazepine. In conclusion, monotherapy with lamotrigine is as effective as carbamazepine in patients with newly diagnosed partial epilepsy. Patients were able to tolerate lamotrigine better than carbamazepine, so more patients receiving lamotrigine were able to remain on therapy.

[Idiopathic generalized epileptic syndromes of children]. / Síndromes epilépticos generalizados idiopáticos del niño.

INTRODUCTION: The idiopathic generalized epilepsies of children form a neurobiological continuum which starts during the first years of life, until adolescence. In this group, infantile absence epilepsy may be considered to be the maximum expression of the idiopathic generalized epilepsies in this age group. Infantile absences have seen studied in animal models, in humans and genetically. DEVELOPMENT: We analyze the clinical and encephalographic characteristics of infantile absence epilepsies together with their prognosis and epidemiology. We also consider the palpebral myoclonias with absences and absences with perioral myoclonias. The generalized tonic-clonic seizures of childhood form an ill-defined epileptic syndrome, with very heterogeneous clinical and electroencephalographic characteristics. CONCLUSION: It seem important to be able to establish the precise diagnosis in these syndromes, since correct treatment depends on it.

[Analysis of cost minimization of monotherapy antiepileptic treatment in patients with recent diagnosed epilepsy : the situation in Spain]. / Análisis de coste-minimización del tratamiento antiepiléptico en monoterapia en pacientes con epilepsia de reciente diagnóstico: situación en España.

OBJECTIVE: To analyze the cost of monotherapeutic treatment of patients with newly diagnosed epilepsy. PATIENTS AND METHODS: We analysed the cost of treatment with lamotrigine (LTG), carbamazepine (CBZ), phenytoin (PHT) and valproic acid (VPA) using published data regarding the efficacy and tolerability of comparative clinical trials of monotherapy. We established a model of treatment for newly diagnosed patients during the first 12 months after diagnosis. A panel of doctors reached a consensus on the use of resources, costs and model of treatment in Spain. We made a cost minimization analysis for economic assessment of the data based on the fact that randomized trials indicated that CBZ, LTG, PHT and VPA ware of similar efficacy. Analysis was done as 'intention to treat'. Only direct medical costs were considered. RESULTS: In Spain treatment with LTG is twice or three times as expensive as treatment with the other drugs. Sensitivity analysis showed that variations in the interval of use of resources and of costs (defined by the panel of doctors) did not significantly alter the results. CONCLUSIONS: Treatment with LTG is more expensive than treatment with the classical drugs. In view of the methodological limitations of this study, further analysis is necessary, particularly of the methodology of cost-benefit, to evaluate the economic impact of the new antiepileptic drugs and determine whether their use is justified as drugs of first choice.

Análisis de coste-minimización del tratamiento antiepilépticoen monoterapia en pacientes con epilepsia de reciente diagnóstico:situación en España / Cost minimization analysis of monotherapy for antiepileptic treatment in patients with newly diagnosed epilepsy: the position in Spain

Objetivo. Analizar el coste del tratamiento en monoterapia de los pacientes con epilepsia de reciente comienzo. Pacientes y métodos. Se analizó el coste del tratamiento con lamotrigina (LTG), carbamacepina (CBZ), fenitoína (PHT) y ácido valproico (VPA) utilizando datos publicados sobre eficacia y tolerabilidad de los ensayos clínicos comparativos en monoterapia. Se estableció un modelo de tratamiento de pacientes con epilepsia de reciente comienzo durante los primeros 12 meses tras su diagnóstico. Un panel de médicos consensuó el uso de recursos, costes y el modelo de tratamiento en nuestro país. Se llevó a cabo un análisis de coste-minimización para evaluar económicamente los datos, basado en que los ensayos aleatorizados indicaban que CBZ, LTG, PHT y VPA eran de eficacia similar. El análisis se realizó como `intención de tratar'. Únicamente se consideraron los costes médicos directos. Resultados. En nuestro país, el tratamiento con LTG es entre dos y tres veces más costoso que con las otras medicaciones. Un análisis de sensibilidad demostró que variaciones en el intervalo de uso de recursos y de costes (definido por el panel de médicos) no alteraban de forma significativa los resultados. Conclusiones. El tratamiento con LTG es más costoso que el tratamiento con fármacos clásicos. Dadas las limitaciones metodológicas del actual estudio, se precisan nuevos análisis, especialmente con metodología de coste-beneficio, para valorar el impacto económico de los nuevos antiepilépticos y determinar si está justificada su utilización como fármaco de primera elección (AU)