Síndrome opercular anterioren la infancia por enfermedad de Moyamoya / Anterior opercular syndrome in childhood due to Moyamoya disease

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[Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome?]. / Leucoencefalopatía mitocondrial del lactante. ¿Forma precoz de un síndrome de Leigh?

INTRODUCTION: Leigh syndrome is probably the most frequent metabolic disorder in infancy and childhood. The classic form of the disease is characterized by bilateral lesions of basal ganglia and brainstem. The extensive involvement of white matter, without radiological basal ganglia abnormalities, is an unusual manifestation of the disease. OBJECTIVE: Four patients who presented the disease during the first year of life are described. PATIENTS AND METHODS: The four patients presented a stereotyped clinical picture, consisting of regression of already acquired psychomotor abilities and very prominent pyramidal signs. These clinical manifestations and results of neuroimaging studies suggested a primary leukodystrophy. Increased values of lactic and piruvic acids suggested a mitochondrial disorder. Enzymatic studies confirmed a mitochondrial respiratory chain deficiency in two patients, and a pyruvate dehydrogenase complex defect in the remaining two patients. The pathological findings in the latter two sisters were consistent with the characteristic microscopic lesions of Leigh syndrome, but with atypical distribution. CONCLUSION: Diagnosis of Leigh syndrome must be taken into consideration in infants presenting with a leukodystrophic clinical and radiological pattern, despite the lack of basal ganglia involvement.

[Antiepileptic drugs used in childhood. New products and new concepts]. / Fármacos antiepilépticos utilizados en la infancia. Nuevos productos y nuevos conceptos.

INTRODUCTION: Eight new antiepileptic drugs (AED) have been marketed in Spain since 1990 and others will soon follow. OBJECTIVE: To review the concepts underlying the development of the new drugs, as well as their indications, efficacy and safety. DEVELOPMENT: Pharmacologic antiepileptic intervention is no longer solely directed towards an anticonvulsant effect, but also to epileptogenic prevention, disease modification and reversal of pharmacoresistance. The development of new AED, initially based on the screening of putative products in animal models, changed during the last half of the century to a rational design based on known facts about excitatory /inhibitory neuronal mechanisms. More recently, attention has focussed on pharmacogenetics. The new AED were initially indicated for partial epilepsies, but some have been shown to have a broader clinical spectrum. Some show the ideal pharmacokinetic mechanisms, avoiding hepatic metabolism and protein binding. Drug interactions and adverse effects, especially severe idiosyncratic adverse effects, are rare, although there are some exceptions. In most cases, however, seizure control does not seem to be better than with the classic AED. Because of the specific characteristics of childhood epilepsy and pharmacokinetics, as well as the regulations governing the development of clinical trials, the use of new products in children is circumspect, which in turn delays the access of such patients to a possible therapeutic benefit.

Fármacos antiepilépticos utilizados en la infancia. Nuevos productos y nuevos conceptos / Antiepileptic drugs used in childhood. New products and new concepts

Introducción: Desde 1990 se han comercializado en nuestro país ocho nuevos fármacos antiepilépticos (FAE), y otros más lo serán en un futuro próximo. Objetivo Revisar los conceptos que guían el desarrollo de los nuevos fármacos, indicaciones, mecanismo de acción, eficacia y tolerabilidad. Desarrollo La intervención farmacológica antiepiléptica no es ya puramente anticonvulsionante, sino que se dirige hoy en día a la prevención de la epileptogénesis, a la modificación del pronóstico de la enfermedad y a revertir la farmacorresistencia. El desarrollo de nuevos fármacos pasó desde la experimentación animal con diferentes productos, hacia el "diseño racional" de fármacos basado en los mecanismos conocidos de excitación/inhibición neuronal durante la segunda mitad de siglo, para encaminarse actualmente hacia la denominada farmacogenética. Los nuevos FAE estaban indicados inicialmente para las epilepsias focales, aunque algunos han demostrado poseer un espectro de acción más amplio. La farmacocinética de muchos de ellos posee las características ideales, eludiendo el metabolismo hepático y la unión a proteínas. Las interacciones medicamentosas y los efectos secundarios son menores, sobre todo en lo referido a reacciones idiosincrásicas graves, existiendo alguna excepción que conviene reseñar. La eficacia terapéutica, sin embargo, no es mayor que la de los fármacos clásicos en la mayoría de los casos. Las características específicas de la epilepsia y de la farmacocinética durante la infancia, además de las normas oficiales para el desarrollo de los ensayos clínicos, condicionan una utilización precavida de los nuevos FAE en la infancia, lo que simultáneamente retrasa la accesibilidad de los niños al posible beneficio terapéutico (AU)

Amnesia global transitoria: una enfermedad del adulto presente en la infancia / Global transitory amnesia: An adult disorder also present in childhood

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[Benign childhood occipital epilepsy: evolution of the occipital spikes]. / Epilepsia occipital infantil benigna: evolución del grafoelemento característico.

PURPOSE: We studied the electro-clinical evolution of the occipital EEG discharges characteristic of partial benign epilepsy of childhood with occipital paroxysms. The influence of age, sex, epilepsy course and treatment on the evolution of this electrical event were analyzed. METHODS: A longitudinal retrospective study that included 30 patients who fullfilled the diagnostic criteria of benign occipital epilepsy proposed by the ILAE. The onset, migration and disappearance of EEG foci were analyzed using the Pearson coefficient and non-parametric tests. RESULTS: Occipital spikes are found earlier when vomiting is an ictal symptom (p < 0.01) or longer seizures (p = 0.05). Patients with and antecedent of febrile seizures or with an visual aura show a later onset of occipital spikes (p < 0.05). Ictal vomiting is associated with a longer persistence of occipital spikes along the years. Migration of EEG foci to anterior regions is characteristic of early onset seizures and predicts a later remission (p < 0.05). Extraoccipital foci are associated with a high seizure and occipital spike recurrence rate. CONCLUSIONS: Occipital spikes persist longer than seizures. Ictal vomiting is the only symptom related to specific EEG features: early onset, longer evolution and late remission of EEG discharges.

Epilepsia occipital infantil benigna: evolución del grafoelemento característico / Benign childhood occipital epilepsy: evolution of the occipital spikes

OBJETIVO: Estudiar la evolución del grafoelemento EEG característico de la epilepsia occipital benigna infantil y la influencia que sobre ésta tiene la edad, el sexo, el curso de la epilepsia y su tratamiento. MÉTODOS: Estudio longitudinal retrospectivo de una serie de 30 pacientes diagnosticados de epilepsia parcial benigna occipital según criterios de la ILAE. Analizamos la secuencia temporal de aparición, migración y desaparición del foco EEG mediante el coeficiente de correlación de Pearson y pruebas no paramétricas. RESULTADOS: El primer paroxismo occipital aparece precozmente cuando los vómitos forman parte de las crisis (p < 0,01) y cuando éstas son prolongadas (p = 0,05). Su aparición es más tardía cuando hay antecedente de crisis febriles o aura visual (p < 0,05). Los vómitos críticos se asocian a una duración mayor de la punta occipital a lo largo de los años (p < 0,05). La migración anterior del foco EEG ocurre en las epilepsias de inicio precoz y predice una remisión tardía de las crisis (p < 0,05). Otros paroxismos asociados a los occipitales aparecen sobre todo en los casos con mayor duración de las crisis y de la punta occipital. CONCLUSIONES: La punta occipital permanece más en el tiempo que las crisis. La presencia de vómitos es el único síntoma que se relaciona con características electroencefalográficas concretas: aparición temprana del grafoelemento occipital, mayor duración del mismo y edad de finalización más tardía. (AU)

[Congenital myasthenic syndromes. Clinical and electromyographic evaluation]. / Síndromes miasténicos congénitos. Valoración clínica y electromiográfica.

BACKGROUND: Congenital myasthenic syndromes are the more frequent group of disorders involving neuromuscular transmission in childhood. They are characterized by hypotonia, weakness and periodic apneic spells, which can be life threatening. Further elucidation of the causes of these syndromes requires sophisticated technology, which is not available in all hospitals. OBJECTIVE: To provide evidence that clinical features and repetitive stimulation support and guide the correct diagnosis in the absence of invasive techniques. METHODS: All the patients diagnosed with congenital myasthenic syndrome were selected. The sample consisted of four children: two with a defect in acetylcholine resynthesis and mobilization (familial infantile myasthenia), one with absence of the endplate-specific form of acetylcholinesterase and one with acetylcholine receptor deficit. The clinical and electromyographic features of these syndromes are described in detail. CONCLUSIONS: Clinical phenotypes and repetitive stimulation can be used to classify the most common myasthenic syndromes and to avoid more aggressive techniques, predict potentially life threatening respiratory exacerbations and avoid iatrogenic effects. They can also be used in genetic counseling.

Síndromes miasténicos congénitos. Valoración clínica y electromiográfica / Congenital myasthenic syndromes. Clinical and electrophysiological evaluation

Los síndromes miasténicos congénitos son los defectos de la transmisión neuromuscular más frecuentes en la infancia. Causan hipotonía, debilidad e insuficiencia respiratoria que puede conllevar graves consecuencias. Su filiación exacta requiere sofisticadas técnicas, que no se encuentran al alcance de la mayoría de los hospitales. Objetivo Aportar evidencias sobre el hecho de que la clínica y la estimulación repetitiva dan soporte y orientan el diagnóstico adecuado, en ausencia de técnicas invasivas. Métodos Selección de todos los pacientes con diagnóstico de síndrome miasténico congénito. La muestra está formada por cuatro niñas: dos defectos de resíntesis y movilización de la acetilcolina (miastenia familiar infantil), un defecto de la enzima acetilcolinesterasa y un déficit de receptor. Se describen en detalle las características clínicas y electromiográficas de cada grupo, así como las peculiaridades de los pacientes. Conclusiones El fenotipo clínico y la estimulación repetitiva permiten reconocer los síndromes miasténicos más frecuentes para evitar la realización de técnicas agresivas, anticiparse a las exacerbaciones respiratorias causa potencial de muerte, evitar la iatrogenia terapéutica y aportar consejo genético (AU)

[Can acute disseminated encephalomyelitis progress in a deferred way?]. / ¿Puede la encefalomielitis aguda diseminada cursar de forma diferida?

OBJECTIVE: To report on the heterogeneity with regard to the clinical course of the acute disseminated encephalomyelitis (ADEM). CASE REPORT: A 5 year old boy suffered of acute disseminated encephalomyelitis of unknown origin. This child suffered two episodes of different neurologic symptoms separated by several weeks. Based on the clinical manifestations and typical appearance of magnetic resonance imaging findings and the absence of oligoclonal bands in CSF immunoglobulins, multiple sclerosis (MS) was ruled out. CONCLUSION: We postulate that the recurrent symptoms in our patient could be explained as a multiphasic disseminated encephalomyelitis (MDEM). Favourable outcome after simultaneous treatment with methylprednisolone and intravenous immunoglobulin is emphasized in this report.

¿Puede la encefalomielitis aguda diseminada cursar de forma diferida? / Can acute disseminated encephalomyelitis progress in a deferred way?

Objetivo. Presentar un caso ilustrativo de la posible heterogeneidad en la evolución clínica de la encefalomielitis aguda diseminada. Caso clínico. Niño de 5 años afecto de una encefalomielitis aguda diseminada de origen desconocido. Este niño sufrió en el transcurso de varias semanas dos episodios con sintomatología neurológica y distribución topográfica diferente. Descartamos el diagnóstico de esclerosis múltiple basándonos en la clínica, los hallazgos de la RM y la persistente normalidad del estudio de ban das oligoclonales de IgG en LCR. Conclusiones. Postulamos que la evolución clínica de nuestro paciente es compatible con el concepto de encefalomielitis diseminada multifásica. Se analiza el tratamiento con corticosteroides e inmunoglobulina endovenosa administrados de forma conjunta y la favorable respuesta clínica obtenida (AU)

[Course of drug-resistant childhood epilepsy treated with topiramate]. / Evolución de la epilepsia infantil rebelde tratada con topiramato.

INTRODUCTION: The variable proportion of cases with childhood epilepsy resistant to treatment, has led to the development of different new drugs. OBJECTIVE: To study the efficacy of topiramate as add-on therapy in the everyday practice of a neuropaediatric clinic. PATIENTS AND METHODS: A retrospective study of all the patients treated with topiramate in a hospital outpatient clinic was performed. OUTCOME MEASUREMENT: 1. Reduction in >/= 50% as compared to basal frequency (partial control) and total control of seizures, and 2. Duration of drug treatment, using the Kaplan-Meier method. RESULTS: We studied 31 courses of treatment in 29 children. The aetiology of the epileptic syndromes was: idiopathic epilepsy (3.3%), cryptogenic epilepsy (58%) and symptomatic epilepsy (38.7%). We found a >/= 50% reduction in the basal monthly frequency of seizures after 3 months of treatment in 52% of the patients, which persisted 18 months later in 25%. Total control of seizures was obtained in 18.5% of the patients after 3 months of treatment, and this response was maintained 12 months later in 12.5%. The probability of maintaining treatment with topiramate for 6 months was 80%, and for 12 months was 49%. The average duration of treatment was 7.9 months (interval 1-29 months). Topiramate was suspended in 9 patients (29%). CONCLUSION: In difficult to treat childhood epilepsy topiramate as add-on therapy provides a partial and total responses which are similar to those reported with classical drugs, and depend on the duration of follow-up.

[Frequency and current clinical diversity of cerebral cortical dysgenesis]. / Frecuencia y diversidad clínica actual de las disgenesias corticales cerebrales.

OBJECTIVE: The extended use of MRI has increased the number of patients diagnosed of cortical dysgenesis and has changed the clinical spectrum usually associated with this disorder. The aim of this study was to know the frequency and clinical variety of cortical dysgenesis in our current patient population. PATIENTS AND METHODS: All patients with dysgenesis of the neocortex or of the hippocampus, according to radiological or pathological features, were selected from the total number of patients attended during 1996 at an outpatient hospital-based neuropediatric clinic. Malformations of cerebellar cortex and neurocutaneous syndrome were excluded. RESULTS: Twenty-one patients (1.3% of all patients attended at the clinic) studied by MRI showed polymicrogyria (43%) which was of perisilvian localization in three patients, heterotopias (33%), dysplasia of the hippocampus (24%), agyria-pachygria (14%) and hemimegaencephalia (5%). Three patients underwent surgical interventions. Epilepsy was present in 90%, mental retardation in 68%, cerebral palsy 47%, infantile spasms 40%, microcephally 25%, autism 10%, hyperkinesis 5% and learning disabilities in 33% of those school age children free of mental retardation. CONCLUSIONS: The actual prevalence of cortical dysgenesis at our clinic is similar to that of neurodevelopmental impairments following birth-asphyxia (1.2%), amounting to two thirds of those following prematurity and to half of those following a brain injury of late prenatal onset. Except for the almost constant presence of epilepsy, especially infantile spasms, clinical symptomatology is diverse and occurs in a similar percentages in brain lesions acquired during labour or during late pregnancy. Hyperkinesis and autism have a similar prevalence to that seen in the total number of patients attended at the clinic during 1996.

[Polymorphic epilepsy in children. Study of 12 patients]. / Epilepsia polimorfa de la infancia: revisión de 12 casos.

OBJECTIVE: The purpose of this report is to describe our series of patients with polymorphic epilepsy, an infrequent diagnosis which was previously called severe myoclonic epilepsy. PATIENTS AND METHODS: A retrospective descriptive study of 12 patients diagnosed with polymorphic epilepsy according to the criteria proposed by the International League Against Epilepsy (1989) was carried out. All patients were recruited from the Neuropediatric Unit at our hospital. Minimum follow-up was 18 months, with a maximum of 20 years. RESULTS: In our opinion, the syndrome's evolution has three clinical EEG phases. The febrile phase, the catastrophic phase and the residual phase. The main interest from a pediatric point of view is the absence of EEG anomalies during the febrile phase, in spite of the severity of the condition. This may lead to confusion of the actual syndrome with complicated febrile seizures, which usually have a better prognosis. Another misleading diagnosis could be post-immunization disorders. To our best knowledge, evolution towards the catastrophic phase cannot be deterred. Antiepileptic drugs, in mono- or poly-therapy, at least until the present, have not proven to be useful in this disorder.