Manejo de las lesiones atípicas del tronco del encéfalo en niños con neurofibromatosis tipo 1 / Management of atypical lesions of the brain stem in children with neurofibromatosis type 1

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Alteraciones del pelo como signo de enfermedad mitocondrial / Hair disorders as sign of mitochondrial disease

Introducción: Los trastornos de la cadena respiratoria mitocondrial conllevan una disminución del aporte energético celular, lo que puede afectar al crecimiento y al desarrollo del pelo. Objetivo: Valorar si una técnica sencilla, como es el análisis microscópico del pelo, podría servir como herramienta de orientación diagnóstica de las enfermedades mitocondriales. Resultados: Se estudiaron 13 pacientes con enfermedad mitocondrial, de los cuales 6 tenían el pelo quebradizo y fino, pero sólo uno de ellos presentaba alteraciones más concretas(pili torti et canaliculi). En el grupo de controles sanos no se observó ninguna alteración. Conclusiones: Las alteraciones del pelo pueden formar parte del amplio espectro clínico de las enfermedades mitocondriales. Sin embargo, al ser tan inespecíficas, por sí solas son poco útiles como herramienta de orientación diagnóstica(AU)

Introduction: Disorders of the mitochondrial respiratory chain lead to a decrease in celular energy supply and this can affect hair growth and development. Objective: The aim of this study was to assess whether microscopic hair examination could be used as an easy diagnostic tool of mitochondrial diseases. Results: 6 out of 13 patients with mitochondrial disease had fragile and thin hair, but only one had specific alterations (pilitorti et canaliculi). The healthy control group revealed no apparent abnormality. Conclusions: Hair disorders might belong to the broad spectrum of presenting symptoms of mitochondrial diseases. However, these anomalies are unspecific and have not much performance as diagnostic tool(AU)

Síndrome de Lennox-Gastaut en España: estudio epidemiológico retrospectivo y descriptivo / Lennox-Gastaut syndrome in Spain: a descriptive retrospective epidemiological study

Introducción. El síndrome de Lennox-Gastaut (SLG) es uno de los síndromes epilépticos más graves de la infancia. Se aracteriza por la presencia de varios tipos de crisis, un trazado electroencefalográfico característico y la frecuente asociación de retraso mental. No existen datos precisos sobre la epidemiología del SLG en España. Objetivo. Describir el perfil epidemiológico del SLG en España. Pacientes y métodos. Estudio epidemiológico retrospectivo de una serie de 331 pacientes con SLG procedentes de 50 hospitales españoles. Se consideraron casos de SLG aquellos pacientes que tenían al menos dos de los tres tipos de crisis características del SLG (crisis tónicas axiales, ausencias atípicas y crisis atónicas) junto con actividad intercrítica difusa de punta-onda lenta (< 3 Hz) en el electroencefalograma en vigilia. Resultados. La edad media de los pacientes fue de de 18,2 ± 13,5 años. El 62% eran varones y el 97% tenía retraso cognitivo. El 54% de los casos fue de etiología sintomática. Los tipos de crisis más frecuentes fueron las tónicas axiales (89%), seguidas de las ausencias atípicas (84%) y las crisis atónicas (69%). El 99% de los pacientes fue tratado con politerapia, siendo los fármacos más frecuentemente empleados el ácido valproico, la lamotrigina y el topiramato. Conclusiones. Los resultados del estudio son consistentes con los de estudios previos realizados en poblaciones de características similares. El elevado porcentaje de pacientes con SLG con retraso cognitivo condiciona en esta encefalopatía epiléptica una gran repercusión, tanto familiar como social (AU)

Introduction. Lennox-Gastaut syndrome (LGS) is one of the most severe epileptic syndromes in childhood. It is characterised by the presence of several types of seizures, a characteristic electroencephalographic trace and its frequent association with mental retardation. There are no accurate data on the epidemiology of LGS in Spain. Aim. To describe the epidemiological profile of LGS in Spain. Patients and methods. We conducted a retrospective epidemiological study of a series of 331 patients with LGS from 50 Spanish hospitals. Patients were considered to be cases of LGS if they had at least two of the three types of seizures that characterise LGS (axial tonic seizures, atypical absences and atonic seizures) and displayed slow diffuse intercritical spikewave activity (< 3 Hz) in the electroencephalogram in wakefulness. Results. The mean age of the patients was 18.2 ± 13.5 years. Of the total sample, 62% were males and 97% had cognitive retardation. And 54% of cases had a symptomatic aetiology. The most frequent types of seizures were axial tonic (89%), followed by the atypical absent type (84%) and atonic seizures (69%). In all, 99% of patients were treated with polytherapy, the most commonly used drugs being valproic acid, lamotrigine and topiramate. Conclusions. The results of the study are in line with those from previous analyses carried out in populations with similar characteristics. The high percentage of LGS patients with cognitive retardation in this epileptic encephalopathy results in important family and social repercussions (AU)

Epilepsias focales benignas en lactantes, niños y adolescentes / Benign focal epilepsies in infancy, childhood and adolescence

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La codificación en neurología pediátrica: un buen indicador de la calidad asistencial / Coding in paediatric neurology: a good indicator of the quality of health care

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Leucoencefalopatía con sustancia blanca evanescente: a propósito de un caso / Leukoencephalopathy with vanishing white matter: a case report

Introducción. La leucoencefalopatía con sustancia blancaevanescente es una enfermedad hereditaria de transmisión autosómicarecesiva individualizada en 1997. Más tarde se identificaronlas anomalías genéticas responsables: diferentes mutaciones encualquiera de los cinco genes que codifican las cinco subunidadesdel factor de iniciación de la traducción eIF2B. Desde entonces, elespectro clínico de esta entidad se ha mostrado mucho más amplioy su frecuencia mucho mayor de lo imaginado inicialmente. Presentamosun caso de la forma clínica clásica, el primero segúnnuestro conocimiento publicado hasta la fecha en España. Casoclínico. Niña de 5 años que desde hace dos presenta una inestabilidadde la marcha recientemente agravada tras un traumatismo craneoencefálicoleve. En la exploración presenta una ataxia cerebelosaglobal y una espasticidad generalizada. La resonancia magnética(RM) muestra una afectación difusa y simétrica de la sustanciablanca cerebral con la presencia de cavidades en las que la intensidad de la señal, así como el espectro protónico, son similares alos del líquido cefalorraquídeo. El estudio genético revela una mutacióndel gen que codifica eIF2B-épsilon. Conclusiones. Una RMsugerente, aun en una presentación atípica, indicaría descartaruna mutación de los genes que codifican eIF2B. Esto posibilitaríael diagnóstico precoz de esta enfermedad, probablemente más prevalentede lo imaginado, lo que permitiría el consejo genético ycontribuiría a establecer un correlato genotipo-fenotipo que permitiríaademás la estimación pronóstica

Introduction. Leukoencephalopathy with vanishing white matter is an autosomal recessive hereditary disease thatwas first reported in 1997. Some time later the genetic anomalies responsible for the disease were identified, these beingdifferent mutations in any of the five genes that code for the five subunits of the translation initiation factor, eIF2B. Since then,the clinical spectrum of this condition has proved to be much broader and far more frequent than was initially believed. Wereport on a case of the classical clinical form, which is to our knowledge the first to be published in Spain to date. Case report.A 5-year-old female who presented gait instability that recently got worse following a mild traumatic head injury. Theexamination revealed overall cerebellar ataxia and generalised spasticity. Magnetic resonance imaging (MRI) showed diffuseand symmetrical involvement of the white matter of the brain with the presence of cavities in which the signal intensity and theproton spectrum were similar to those of cerebrospinal fluid. The genetic study revealed a mutation of the gene that codes foreIF2B-epsilon. Conclusions. A suggestive MRI scan, even in an atypical presentation, would be enough to rule out a mutationof the genes that code for eIF2B. This would make it possible to reach an early diagnosis of this disease, which is probablymore prevalent than is currently thought. This would allow genetic counselling to be conducted and would help to establish agenotype-phenotype correlate that would also make it possible to offer an estimated prognosis

[Leukoencephalopathy with vanishing white matter: A case report]. / Leucoencefalopatía con sustancia blanca evanescente: a propósito de un caso.

INTRODUCTION: Leukoencephalopathy with vanishing white matter is an autosomal recessive hereditary disease that was first reported in 1997. Some time later the genetic anomalies responsible for the disease were identified, these being different mutations in any of the five genes that code for the five subunits of the translation initiation factor, eIF2B. Since then, the clinical spectrum of this condition has proved to be much broader and far more frequent than was initially believed. We report on a case of the classical clinical form, which is to our knowledge the first to be published in Spain to date. CASE REPORT: A 5-year-old female who presented gait instability that recently got worse following a mild traumatic head injury. The examination revealed overall cerebellar ataxia and generalised spasticity. Magnetic resonance imaging (MRI) showed diffuse and symmetrical involvement of the white matter of the brain with the presence of cavities in which the signal intensity and the proton spectrum were similar to those of cerebrospinal fluid. The genetic study revealed a mutation of the gene that codes for eIF2B-epsilon. CONCLUSIONS: A suggestive MRI scan, even in an atypical presentation, would be enough to rule out a mutation of the genes that code for eIF2B. This would make it possible to reach an early diagnosis of this disease, which is probably more prevalent than is currently thought. This would allow genetic counselling to be conducted and would help to establish a genotype-phenotype correlate that would also make it possible to offer an estimated prognosis.

[The neuropsychology of epilepsy: what factors are involved?]. / Neuropsicología de la epilepsia: qué factores están implicados?

INTRODUCTION: The epileptic child is three times more likely to have cognitive problems from other neurological pathologies, depending on three facts: the effect exerted by the epilepsy itself, any associated previously-existing neuropsychosocial deficits, and the side effects of the antiepileptic drug (AED). A certain degree of deterioration is universally accepted, although the factors involved in its production are not specified, but are generally accepted as being due to multiple causes. We analyse the relation between neuropsychology and epilepsy in neuropaediatrics. DEVELOPMENT: The relation between epilepsy and behaviour must be seen as the exception rather than the rule, unless there are co-existing personality disorders and/or mental deficiency. The cognitive effects of AED depend on the drug, on the dosages employed and the polypharmacy, and these effects can be both adverse and favourable. The differences observed between one drug and another are open to criticism, although monitored administration of suitable doses generally produces moderate adverse side effects, as evaluated using reliable appraisal methods (MIDDRA). Scaling time in the introduction of the drug is important, especially with some new AED. The mechanisms governing production vary, but an understanding of the mechanism of action improves cognitive functioning thanks to the control over the seizures. In infancy, idiopathic cognitive reactions are produced. The main disorders are a diminished reaction and information processing time with alterations affecting memory, attention and language. CONCLUSIONS: Epilepsy is associated to a number of different, generally moderate, cognitive problems. The age of onset, the type of syndrome, its aetiology, the response to treatment and polypharmacy are multifactorial elements conditioning the side effects. There is a need for batteries of tests capable of forecasting the future and controlling the progression of cognition during treatment. The side effects of AED affecting cognition and behaviour are generally moderate, but they may be important in the case of a particular child.

Neuropsicología de la epilepsia: ¿qué factores están implicados? / The neuropsychology of epilepsy: what factors are involved?

Introducción. El niño epiléptico triplica el riesgo de presentarproblemas cognitivos de otras patologías neurológicas dependiendode tres hechos: el efecto de la propia epilepsia, los déficitneuropsicosociales previos asociados y el efecto adverso del fármacoantiepiléptico (FAE). Cierto deterioro se acepta universalmente,sin concretarse factores relevantes productores, generalmente multifactoriales.Analizamos la relación neuropsicología/ epilepsia enneuropediatría. Desarrollo. La relación epilepsia/comportamientodebe considerarse una excepción y no la regla, salvo que coexistantrastornos de personalidad y/o deficiencia mental. Los efectos cognitivosde los FAE dependen del fármaco, de la dosis utilizada y dela polifarmacia; estos efectos son tanto adversos como favorables.Las diferencias entre fármacos son criticables, ya que dosis adecuadasmonitorizadas producen efectos adversos generalmente leves,valorados fiablemente (MIDDRA). El tiempo de escalada es importante,en especial con algunos nuevos FAE. Los mecanismos de producciónson variados, pero el conocimiento del mecanismo de acciónmejora el funcionamiento cognitivo gracias al control de la crisis.En la infancia existen reacciones cognitivas idiopáticas. Lasprincipales son disminución del tiempo de reacción y del procesamientode información con alteración de la memoria, la atención yel lenguaje. Conclusiones. La epilepsia se asocia a diversos problemascognitivos generalmente leves. La edad de inicio, el tipo de síndrome,la etiología, la respuesta terapéutica y la polifarmacia sonelementos multifactoriales condicionantes de efecto adverso. Precisamosbaterías de tests que pronostiquen el futuro y controlen evolutivamentela cognición durante el tratamiento. Los efectos adversosde los FAE sobre la cognición y la conducta son generalmentemodestos; pueden ser importantes para un niño determinado

Introduction. The epileptic child is three times more likely to have cognitive problems from other neurologicalpathologies, depending on three facts: the effect exerted by the epilepsy itself, any associated previously-existing neuropsychosocialdeficits, and the side effects of the antiepileptic drug (AED). A certain degree of deterioration is universally accepted, although thefactors involved in its production are not specified, but are generally accepted as being due to multiple causes. We analyse therelation between neuropsychology and epilepsy in neuropaediatrics. Development. The relation between epilepsy and behaviourmust be seen as the exception rather than the rule, unless there are co-existing personality disorders and/or mental deficiency. Thecognitive effects of AED depend on the drug, on the dosages employed and the polypharmacy, and these effects can be both adverseand favourable. The differences observed between one drug and another are open to criticism, although monitored administrationof suitable doses generally produces moderate adverse side effects, as evaluated using reliable appraisal methods (MIDDRA).Scaling time in the introduction of the drug is important, especially with some new AED. The mechanisms governing productionvary, but an understanding of the mechanism of action improves cognitive functioning thanks to the control over the seizures. Ininfancy, idiopathic cognitive reactions are produced. The main disorders are a diminished reaction and information processingtime with alterations affecting memory, attention and language. Conclusions. Epilepsy is associated to a number of different,generally moderate, cognitive problems. The age of onset, the type of syndrome, its aetiology, the response to treatment andpolypharmacy are multifactorial elements conditioning the side effects. There is a need for batteries of tests capable of forecastingthe future and controlling the progression of cognition during treatment. The side effects of AED affecting cognition and behaviourare generally moderate, but they may be important in the case of a particular child

Eficacia y tolerabilidad del levetiracetam en 133 niños con crisis epilépticas farmacorresistentes / Effectiveness and safety of levetiracetam in 133 children with medication resistant epileptic seizures

Introducción. El levetiracetam (LEV) es el último fármacoaprobado en la Unión Europea para su utilización en politerapiaen niños mayores de 4 años con crisis epilépticas parciales rebeldesa otros antiepilépticos. Objetivo. Referir nuestra experienciaal asociar LEV en niños con crisis epilépticas farmacorresistentes.Pacientes y métodos. Estudio abierto, observacional, retrospectivo,de 133 niños con epilepsias refractarias, 106 con crisis focalesy 27 con otros tipos de crisis, asociando LEV durante más de6 meses, valorando su repercusión en la frecuencia de crisis y losefectos secundarios relacionados con el fármaco. Resultados. Condosis medias de LEV de 1.192 ±749 mg/día se ha reducido más deun 50% la frecuencia de las crisis en el 58,6% de los casos y se hansuprimido las crisis en el 15,8% de los pacientes. Se han producidoefectos adversos en el 27,8% de los casos, habitualmente transitorioso tolerables; estos efectos motivaron la supresión del LEVsólo en ocho casos (6,02%). En 37 niños (27,8%) los familiaresapreciaron una mejoría de la conducta social y de las habilidadescognitivas. Conclusiones. a) El LEV es un fármaco eficaz y bien toleradoen niños con epilepsias refractarias; b) Su eficacia en diversostipos de crisis denota un espectro terapéutico amplio; y c) ElLEV puede incluso condicionar efectos secundarios favorables,circunstancia referida excepcionalmente en otros antiepilépticos

Introduction. Levetiracetam (LEV) is the latest drug approved in the European Union for use in polytherapy in childrenover 4 years of age with partial epileptic seizures that are resistant to other antiepileptic drugs. Aim. To report our experience ofassociating LEV in children with medication resistant epileptic seizures. Patients and methods. We conducted an open,observational, respective study involving 133 children with refractory epilepsies: 106 with focal seizures and 27 with other typesof seizures. LEV was associated over a period of more than 6 months and we evaluated its repercussion on the frequency of theseizures and the side effects related to the drug. Results. With average doses of LEV of 1,192 ± 749 mg/day the frequency ofthe seizures was reduced by over 50% in 58.6% of cases and seizures were quelled in 15.8% of patients. Side effects were producedin 27.8% of cases, and were usually transient or tolerable; these effects led to withdrawal of LEV in only eight cases (6.02%). In37 children (27.8%), their relatives noted an improvement in their social behaviour and cognitive abilities. Conclusions. a) LEVis an effective drug that is well tolerated in children with refractory epilepsy; b) Its effectiveness in different types of seizuresindicates a broad therapeutic spectrum; and c) LEV can even condition favourable secondary effects, a circumstance that hasbeen reported only exceptionally in the case of other antiepileptic drugs

[Effectiveness and safety of levetiracetam in 133 children with medication resistant epileptic seizures]. / Eficacia y tolerabilidad del levetiracetam en 133 niños con crisis epilépticas farmacorresistentes.

INTRODUCTION: Levetiracetam (LEV) is the latest drug approved in the European Union for use in polytherapy in children over 4 years of age with partial epileptic seizures that are resistant to other antiepileptic drugs. AIM. To report our experience of associating LEV in children with medication resistant epileptic seizures. PATIENTS AND METHODS: We conducted an open, observational, respective study involving 133 children with refractory epilepsies: 106 with focal seizures and 27 with other types of seizures. LEV was associated over a period of more than 6 months and we evaluated its repercussion on the frequency of the seizures and the side effects related to the drug. RESULTS: With average doses of LEV of 1,192 +/- 749 mg/day the frequency of the seizures was reduced by over 50% in 58.6% of cases and seizures were quelled in 15.8% of patients. Side effects were produced in 27.8% of cases, and were usually transient or tolerable; these effects led to withdrawal of LEV in only eight cases (6.02%). In 37 children (27.8%), their relatives noted an improvement in their social behaviour and cognitive abilities. CONCLUSIONS: a) LEV is an effective drug that is well tolerated in children with refractory epilepsy; b) Its effectiveness in different types of seizures indicates a broad therapeutic spectrum; and c) LEV can even condition favourable secondary effects, a circumstance that has been reported only exceptionally in the case of other antiepileptic drugs.

Malformaciones arteriovenosas en la infancia: a propósito de cuatro casos / Arteriovenous malformations in children: a report of four cases

Introducción y objetivo. Las malformaciones vascularesson la causa más corriente de hemorragia intracraneal (HI) notraumática tras la etapa neonatal. Las malformaciones arteriovenosas(MAV) son las malformaciones vasculares que con mayorfrecuencia causan síntomas en la infancia y la causa más habitualde HI en niños mayores de un año. Casos clínicos. Se revisaron lashistorias clínicas de todos los pacientes menores de 16 años quepresentaron un diagnóstico de MAV desde el año 2000 hasta laactualidad. Encontramos cuatro casos de edades comprendidasentre los 7 y los 15 años, todos ellos estudiados con tomografíacomputarizada y/o resonancia magnética y arteriografía cerebrales.Un paciente comenzó con cefaleas y otro presentaba alteracionesdel aprendizaje. Los otros dos empezaron con HI. Las manifestacionesclínicas más frecuentes de ésta fueron la disminución delnivel de conciencia y los vómitos. La arteriografía estableció eldiagnóstico definitivo en todos los casos. Se realizó tratamientoquirúrgico en tres casos (mediante cirugía, embolización por catétery radiocirugía estereoatáxica con excelente evolución posterior.Conclusiones. La hemorragia espontánea constituye el iniciomás frecuente de las MAV, pero a veces existen manifestacionesprevias que constituyen un reto diagnóstico y que deberían resultarel objetivo de futuras investigaciones, pues evitar la HI significaríareducir drásticamente la morbimortalidad de las MAV

Introduction and aims. Vascular malformations are the most frequent cause of intracranial haemorrhage (IH) afterthe neonatal period that are not due to traumatic injury. Arteriovenous malformations (AVM) are the vascular malformationsthat most often give rise to symptoms in infancy and are the most common cause of IH in children over one year of age. Casereports. We reviewed the medical records of all patients under the age of 16 years diagnosed with AVM from the year 2000 tothe present. Four cases aged between 7 and 15 years were found, all of whom were examined with computerised tomographyand/or magnetic resonance imaging and cerebral arteriography scans. One patient started with headaches and another hadlearning disabilities. The other two began with IH, the most common clinical manifestations of which were a diminished levelof awareness and vomiting. The final diagnosis was established by means of arteriography in all cases. Surgical treatment wascarried out in three cases (using surgery, catheter embolisation and stereotaxic radiosurgery) and the patients’ progressfollowing the intervention was excellent. Conclusions. Spontaneous haemorrhage constitutes the most common presentingsymptom of AVM. However, there are sometimes earlier manifestations that are a challenge to diagnosis and which should bethe target of future research, since preventing IH would lead to a drastic reduction in the morbidity and mortality rate of AVM

[Arteriovenous malformations in children: a report of four cases]. / Malformaciones arteriovenosas en la infancia: a proposito de cuatro casos.

INTRODUCTION AND AIMS: Vascular malformations are the most frequent cause of intracranial haemorrhage (IH) after the neonatal period that are not due to traumatic injury. Arteriovenous malformations (AVM) are the vascular malformations that most often give rise to symptoms in infancy and are the most common cause of IH in children over one year of age. CASE REPORTS: We reviewed the medical records of all patients under the age of 16 years diagnosed with AVM from the year 2000 to the present. Four cases aged between 7 and 15 years were found, all of whom were examined with computerised tomography and/or magnetic resonance imaging and cerebral arteriography scans. One patient started with headaches and another had learning disabilities. The other two began with IH, the most common clinical manifestations of which were a diminished level of awareness and vomiting. The final diagnosis was established by means of arteriography in all cases. Surgical treatment was carried out in three cases (using surgery, catheter embolisation and stereotaxic radiosurgery) and the patients' progress following the intervention was excellent. CONCLUSIONS: Spontaneous haemorrhage constitutes the most common presenting symptom of AVM. However, there are sometimes earlier manifestations that are a challenge to diagnosis and which should be the target of future research, since preventing IH would lead to a drastic reduction in the morbidity and mortality rate of AVM.

Epilepsia infantil refractaria: enfoque práctico / Refractory epilepsy in childhood: a practical approach

Todas las epilepsias de inicio en la infancia pueden aparecer como refractarias al tratamiento, ya sean idiopáticas, sintomáticas o criptogénicas. El problema, además, se plantea no sólo según el tipo de epilepsia o sfndrome epiléptico, sino también según la edad de comienzo y, especialmente en la edad infantil, debe valorarse no como un hecho aislado en la vida del niño, sino en el contexto de su proceso de maduración neurológica global. Antes de etiquetar una epilepsia como refractaria o resistente al tratamiento habitual, hay que valorar diversos aspectos: en el epileptológico, precisión de la sintomatología, trazados electroencefalográficods e vigilia y sueño con poligrafía,y vídeo-EEG prolongadoo ambulatorio; en el aspecto etiológico, las exploraciones biológicas y de neuroimagen; desde el punto de vista psicológico y de diagnóstico diferencial, las eventuales relaciones e incidencia de seudo crisis; en el plano terapéutico, utilización racional de los fármacos antiepilépticos (FAE) con control de los niveles terapéuticos, incluidos los aspectos cinéticos y de sus metabolitos, no ser «adepto» de la monoterapia ni aterrorizarse de la politerapia y, por ello, pensar en asociacionesr acionales, tratamientos no específicos (corticoides, dieta cetogénica, inmunoglobulinas), nuevas moléculas e incluso suprimir todo tratamiento (posibilidad de agravación por FAE). Por último, no hay que olvidar que algunas epilepsias pueden mostrarse como refractarias a todo tratamiento durante años y, finalmente, controlarse e incluso curar

All forms of childhood onset epilepsy, whether idiopathic, symptomatic or cryptogenic, can be refractory to treatment. Moreover, the problem not only depends on the type of epilepsy or epileptic syndrome, but also on the age of the patient at onset and, especially in children, should be assessed not as an isolated circumstance in the life of the child, but in the context of his or her overall process of neurological maturation. Before labeling a case of epilepsy as refractory or resistant to standard treatment, a number of different aspects should be evaluated: with respect to epileptology, specification of the symptoms, electroencephalographic (EEG) recordings with polygraph during sleep and wakefulness and long-term or ambulatory video-EEG; in terms of etiology, biological parameters and neuroimaging; from the psychological point of view and to establish the differential diagnosis, the eventual relationship and incidence of pseudoseizures; with respect to therapy, the rational use of antiepileptic drugs with monitoring of the therapeutic levels, including kinetic aspects and those of their metabolites, not adhering religiously to monotherapy or viewing polytherapy with horror and, thus, considering rational associations, nonspecific treatments (corticosteroids, ketogenic diet, immunoglobulins), new molecules and even the discontinuation of all treatment (possibility that antiepileptic drugs make the condition worse). Finally, it is necessary to keep in mind the fact that some epilepsies may be refractory to all treatment for years and, ultimately, become manageable or even be cured

Epidemiología del traumatismo craneal leve en un servicio de urgencias / The epidemiology of head injury in a hospital emergency service

Objetivo: Conocer la epidemiología de los traumatismos craneales (TC) leves en un servicio de urgencias pediátricas mediante un estudio basado en la recogida de datos y su análisis estadístico, ya que su prevención mejorará con el mejor conocimiento de la epidemiología. Material y métodos: Serie de casos. Se elaboró una ficha de recogida de datos. Se efectuó estadística descriptiva. Resultados: La población del estudio estuvo compuesta por 153 pacientes (95 niños y 58 niñas), 94,1 % caucásicos. La madre trabajaba fuera de casa en el 68,6% de los casos. Las condiciones sociales eran desfavorables en un 6,5%. La mayor frecuencia de hermanos fue dos. La franja horaria más frecuente en que se produjeron los TC fue de 11 a 13 horas (24,9%). El lugar más frecuente fue el patio del colegio (19,6%). Del total de TC, un 35,3% se produjo en el domicilio y un 64,7% fuera de éste. En el 26,1% de los casos la lesión fue frontal, y recibieron tratamiento médico y/o cirugía menor el 52,9%. Conclusiones: Los TC leves atendidos son más frecuentes en niños menores de 5 años, varones (62,1%), precedidos de otro accidente en un 32,7% de los casos, y más de uno en el 19,7%. Ocurren con mayor frecuencia fuera del domicilio, siendo los lugares más frecuentes el patio del colegio y los parques. La región frontal fue la más afectada. La atención se realizó en menos de 2 horas en el 68% de los casos. No existieron criterios para efectuar neuroimagen

Objective. To determine the epidemiology of mild head injury by means of a study carried out among children treated in hospital emergency services. Material and methods. We evaluated 153 cases of pediatric head injury diagnosed in our institution. The data were analyzed using descriptive statistics. Results. The series consisted of 95 boys and 58 girls (94.1 % were white). In 68.6% of cases, the mother worked outside the home. The socioeconomic conditions were poor in 6.5%. The most prevalent number of siblings per family was two. Injuries were more frequent between 11:00 and 13:00 hours (24.9%). A large majority of the injuries were produced outside the home (64.7%), with 19.6% occurring at the school playground, while 35.3% occurred at home. Frontal region injury accounted for 26.1% of the cases and 52.9% were treated by medical procedures and/or minor surgery. Conclusions. Mild head injuries were most prevalent among children under 5 years of age and occurred more frequently in boys (62.1 %) than in girls; 32.7% of the children had had a previous head injury, while 19.7% had had more than one. The accidents occurred more frequently outdoors, mainly at the school playground and parks. The frontal region was that most often involved. The children received medical attention within 2 hours in 68% of cases. Neuroimaging was not necessary in our series

Seguimiento y pronóstico en neurología neonatal en el siglo XXI / Follow-up and prognosis in neonatal neurology in the 21st century

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[Neuropsychology and epilepsy]. / Neuropsicología y epilepsia.

AIMS: The epileptic child has three times more risk of presenting cognitive disorders than other children with no neurological pathology, in accordance with three essential facts: 1. The effect exerted by the actual epilepsy. 2. Any associated previously-existing neuropsychosocial deficits. 3. The side effects of the antiepileptic drug (AED). A certain amount of deterioration is universally accepted, without defining the factors involved in its production, but which are multifactorial according to computer studies. From this point of view, we analyse the relation between neuropsychology and epilepsy in Paediatrics. DEVELOPMENT: The relation between epilepsy and behaviour must be seen as an exception and not the rule, unless there are coexisting personality disorders and/or mental deficiency. The cognitive effects of AED depend on the drug, the doses used and on the polypharmacy, and these effects may be both adverse and beneficial. The differences from one drug to another are questionable due to the methodology used in the different studies and it should be remembered that with suitable doses the side effects are generally moderate, and AED monitoring is useful in this case. We recommend the use of MEDDRA assessment to obtain a more reliable definition of side effects, which in turn will allow them to be better evaluated. Scaling time in the introduction of the drug is important, especially with some of the new AED. The mechanisms governing the production of the side effects vary, but both the classical and the new ones, which are well used owing to the greater knowledge we have of their mechanism of action, improve cognitive functioning by controlling the seizures. In infancy, idiopathic cognitive reactions are produced. In childhood, the main disorders are a diminished reaction and information processing time with alterations affecting memory, attention and language. CONCLUSIONS: Epilepsy is associated to a number of different, generally mild, cognitive problems. The age of onset of epilepsy, type of syndrome, its aetiology, the response to treatment and polypharmacy are multifactorial elements conditioning side effects. There is a need for batteries of tests capable of forecasting the future and controlling the progression of cognition during therapy. It can be concluded that the side effects of AED affecting cognition and behaviour are generally mild, but the cognitive side effect of an AED can be important for a particular child.

Neuropsicología y epilepsia / Neuropsychology and epilepsy

Objetivo. El niño epiléptico tiene tres veces más riesgo de presentar problemas cognitivos que otros niños sin patología neurológica, según tres hechos esenciales: 1. El efecto de la propia epilepsia. 2. Los eventuales déficit neuropsicosociales previos asociados. 3. El efecto adverso del fármaco antiepiléptico (FAE). Cierto deterioro se acepta universalmente, sin concretarse factores relevantes para su producción, multifactoriales según estudios computarizados. Desde esta perspectiva, analizamos la relación neuropsicología/epilepsia en Pediatría. Desarrollo. La relación entre epilepsia y comportamiento debe considerarse una excepción y no la regla, salvo que coexistan trastornos de personalidad o deficiencia mental. Los efectos cognitivos de los FAE dependen del fármaco, dosis utilizada y de la polifarmacia, y estos efectos son tanto adversos como favorables. Las diferencias entre distintos fármacos son criticables por la metodología de los diversos trabajos, y se debe retener que con dosis adecuadas los efectos adversos son generalmente discretos, y es de utilidad para ello la monitorización del FAE. Para valorar efectos adversos se aconseja mejor fiabilidad en su definición mediante evaluación MIDDRA. El tiempo de escalada en la introducción del fármaco es importante, en especial con algunos nuevos FAE. Los mecanismos de producción de efectos adversos varían, pero tanto los clásicos como los nuevos, bien utilizados por el mejor conocimiento del mecanismo de acción, mejoran el funcionamiento cognitivo por el control de las crisis. En la infancia existen reacciones cognitivas idiopáticas. En el niño las principales alteraciones son disminución del tiempo de reacción y del procesamiento de información con alteración de la memoria, atención y lenguaje. Conclusiones. La epilepsia se asocia a diversos problemas cognitivos, generalmente de carácter leve. La edad de inicio de la epilepsia, tipo de síndrome, etiología del mismo, respuesta al tratamiento y la polifarmacia son elementos multifactoriales condicionantes de efecto adverso. Se precisa crear baterías de tests que puedan pronosticar el futuro y controlar evolutivamente la cognición durante el tratamiento. Se puede concluir que los efectos adversos de los FAE sobre la cognición y conducta, en general, son modestos, pero el efecto cognitivo adverso de un FAE puede ser importante para un niño determinado. (AU)

Aims. The epileptic child has three times more risk of presenting cognitive disorders than other children with no neurological pathology, in accordance with three essential facts: 1. The effect exerted by the actual epilepsy. 2. Any associated previously-existing neuropsychosocial deficits. 3. The side effects of the antiepileptic drug (AED). A certain amount of deterioration is universally accepted, without defining the factors involved in its production, but which are multifactorial according to computer studies. From this point of view, we analyse the relation between neuropsychology and epilepsy in Paediatrics. Development. The relation between epilepsy and behaviour must be seen as an exception and not the rule, unless there are coexisting personality disorders and/or mental deficiency. The cognitive effects of AED depend on the drug, the doses used and on the polypharmacy, and these effects may be both adverse and beneficial. The differences from one drug to another are questionable due to the methodology used in the different studies and it should be remembered that with suitable doses the side effects are generally moderate, and AED monitoring is useful in this case. We recommend the use of MEDDRA assessment to obtain a more reliable definition of side effects, which in turn will allow them to be better evaluated. Scaling time in the introduction of the drug is important, especially with some of the new AED. The mechanisms governing the production of the side effects vary, but both the classical and the new ones, which are well used owing to the greater knowledge we have of their mechanism of action, improve cognitive functioning by controlling the seizures. In infancy, idiopathic cognitive reactions are produced. In childhood, the main disorders are a diminished reaction and information processing time with alterations affecting memory, attention and language. Conclusions. Epilepsy is associated to a number of different, generally mild, cognitive problems. The age of onset of epilepsy, type of syndrome, its aetiology, the response to treatment and polypharmacy are multifactorial elements conditioning side effects. There is a need for batteries of tests capable of forecasting the future and controlling the progression of cognition during therapy. It can be concluded that the side effects of AED affecting cognition and behaviour are generally mild, but the cognitive side effect of an AED can be important for a particular child (AU)

[Idiopathic epilepsies: some therapeutic aspects]. / Epilepsias idiopáticas: aspectos terapéuticos.

AIMS: The purpose of this study was to determine the therapeutic approach to be used in localisation-related and generalised epilepsies and idiopathic epileptic syndromes. DEVELOPMENT: Recent literature on the subject was reviewed, as were the records on a total of 118 patients from two paediatric neurology units between the years 2000 and 2003. With regard to the localisation-related cases, the following recommendations are made: 1. Treatment with monotherapy; 2. Low doses, since any antiepileptic drug can make epilepsy worse, and more so in the case of RBEI; 3. If the seizures get worse with treatment, the doses must be reduced instead of increased; 4) Carbamazepine (CBZ) and oxcarbazepine (OXC) are first choice drugs; clobazam (CLB) is indicated in OBEI and in some atypical BPEI, in which steroids in monotherapy can occasionally prove useful; valproate (VPA) is an alternative for cases of intolerance and exacerbation, and 5. Two-year treatment and electroencephalogram (EEG) monitoring for exacerbation. As regards idiopathic generalised epilepsies: 1. VPA in monotherapy is recommended in all the forms, 48% were controlled; 18% were controlled with VPA + lamotrigine (LTG); 2. Childhood absence epilepsy is controlled up to 50% with VPA and 85% with VPA + ethosuximide (ESM); 3. LTG, CLB, topiramate (TPM) and Rivotril (CLN) are alternatives to be considered in all types of epilepsies and syndromes that are resistant to medication, and 4. In GCTS, VPA should be chosen in low doses in juvenile myoclonic epilepsy of Janz.