Molecular characterization of congenital myasthenic syndromes in Spain.

Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders, all of which impair neuromuscular transmission. Epidemiological data and frequencies of gene mutations are scarce in the literature. Here we describe the molecular genetic and clinical findings of sixty-four genetically confirmed CMS patients from Spain. Thirty-six mutations in the CHRNE, RAPSN, COLQ, GFPT1, DOK7, CHRNG, GMPPB, CHAT, CHRNA1, and CHRNB1 genes were identified in our patients, with five of them not reported so far. These data provide an overview on the relative frequencies of the different CMS subtypes in a large Spanish population. CHRNE mutations are the most common cause of CMS in Spain, accounting for 27% of the total. The second most common are RAPSN mutations. We found a higher rate of GFPT1 mutations in comparison with other populations. Remarkably, several founder mutations made a large contribution to CMS in Spain: RAPSN c.264C > A (p.Asn88Lys), CHRNE c.130insG (Glu44Glyfs*3), CHRNE c.1353insG (p.Asn542Gluf*4), DOK7 c.1124_1127dup (p.Ala378Serfs*30), and particularly frequent in Spain in comparison with other populations, COLQ c.1289A > C (p.Tyr430Ser). Furthermore, we describe phenotypes and distinguishing clinical signs associated with the various CMS genes which might help to identify specific CMS subtypes to guide diagnosis and management.

[Myths and evidence on the use of botulinum toxin: spasticity in adults and in children with cerebral palsy]. / Mitos y evidencias en el empleo de la toxina botulinica: espasticidad del adulto y del nintilde;o con paralisis cerebral.

INTRODUCTION: Spasticity is a medical problem with a high incidence that significantly impact on the quality of life of patients and their families. AIM: To analyze and to answer different questions about the use of botulinum toxin type A (BTA) in our clinical practice. DEVELOPMENT: A group of experts in neurology develop a list of topics related with the use of BTA. Two big groups were considered: spasticity in adults and in children with cerebral palsy. A literature search at PubMed for English, French, and Spanish language articles published up to June 2016 was performed. The manuscript was structured as a questionnaire that includes those questions that, according to the panel opinion, could generate more controversy or doubt. The initial draft was reviewed by the expert panel members to allow for modifications, and after subsequent revisions for achieving the highest degree of consensus, the final text was then validated. Different questions about diverse aspects of spasticity in adults, such as methods for evaluating spasticity, infiltration techniques, doses, number of infiltration points, etc. Regarding spasticity in children with cerebral palsy, the document included questions about minimum age of infiltration, methods of analgesia, etc. CONCLUSIONS: This review is a tool for continuous training for neurologist and rehabilitation specialist and residents of both specialties, about different specific areas of the management of BTA.

TITLE: Mitos y evidencias en el empleo de la toxina botulinica: espasticidad del adulto y del nintilde;o con paralisis cerebral.Introduccion. La espasticidad es un problema medico frecuente que impacta de forma significativa en la calidad de vida de los pacientes y sus familias. Objetivo. Analizar y dar respuesta a diferentes cuestiones en el uso de la toxina botulinica tipo A (TBA) en nuestra practica clinica habitual. Desarrollo. Un grupo de expertos en neurologia elaboro una lista de temas relacionados con el uso de la TBA. Se consideraron dos grandes bloques: espasticidad del adulto y del nintilde;o con paralisis cerebral. Se realizo una revision de la bibliografia que incluyo los diferentes articulos publicados en espantilde;ol, ingles y frances hasta junio de 2016. El documento se estructuro como un cuestionario que incluyo las preguntas que, segun el criterio del panel, podrian generar mayor controversia o duda. El borrador inicial del documento fue revisado por los miembros del panel y se realizaron las modificaciones necesarias hasta alcanzar el mayor grado de consenso. A continuacion, el texto final fue validado. Se incluyeron diferentes preguntas sobre diferentes aspectos de la espasticidad en adultos: evaluacion de la espasticidad, tecnicas de infiltracion, dosis, numero de puntos, etc. En cuanto a la espasticidad en los nintilde;os con paralisis cerebral, se analizaron preguntas como: edad minima de infiltracion, metodos de sedoanalgesia, etc. Conclusiones. Esta revision constituye una herramienta para neurologos, medicos rehabilitadores y residentes de ambas especialidades, dentro de diferentes ambitos especificos del manejo de la TBA.

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.

Rapsyn (RAPSN) mutations are a common cause of postsynaptic congenital myasthenic syndromes. We present a comprehensive description of the clinical and molecular findings of ten patients with CMS due to mutations in RAPSN, mostly with a long-term follow-up. Two patients were homozygous and eight were heterozygous for the common p.Asn88Lys mutation. In three of the heterozygous patients we have identified three novel mutations (c.869T > C; p.Leu290Pro, c.1185delG; p.Thr396Profs*12, and c.358delC; p.Gln120Serfs*8). In our cohort, the RAPSN mutations lead to a relatively homogeneous phenotype, characterized by fluctuating ptosis, occasional bulbar symptoms, neck muscle weakness, and mild proximal muscle weakness with exacerbations precipitated by minor infections. Interestingly, episodic exacerbations continue to occur during adulthood. These were characterized by proximal limb girdle weakness and ptosis, and not so much by respiratory insufficiency after age 6. All patients presented during neonatal period and responded to cholinergic agonists. In most of the affected patients, additional use of 3,4-diaminopyridine resulted in significant clinical benefit. The disease course is stable except for intermittent worsening.

Hipotensión intracraneal espontánea como causa de cefalea persistente en un caso pediátrico / Spontaneous intracranial hypotension as the cause of persistent headache in a paediatric case

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[Adult-onset metabolic diseases]. / Enfermedades metabólicas de aparición en la edad adulta.

Inborn errors of metabolism (IEM) can have their onset in adolescence or in adulthood. Although it is difficult to contribute exact data on prevalence -because there are few studies in this respect, and IEM are regarded as infrequent- their detection is important due to the possibilities for therapy and family genetic counselling. The main symptoms of IEM in the adult are neurological, followed by hepatic. Two basic modes of onset can be established. One is acute, normally taking the form of consciousness alteration, lethargy, coma of unknown etiology in a previously healthy patient (urea cycle deficits, homocysteine remethylation disorders and porphyries are the most frequent causes). The other is an insidious, often progressive, chronic symptomathology that can involve complex clinical features, and more rarely a symptom that is isolated in a persistent way (Wilson's disease, mitochondrial diseases, lysosomal storage disorders, Refsum's disease and glycogenosis are some examples of this group). It is especially important to determine the forms of acute onset as these can present situations of extreme emergency where appropriate conduct can prevent the death of the patient. In this case, simple laboratory examinations, such as determination of ammonia, homocysteine, lactate, acylcarnitines, amino acids, organic and porfirines, can guide the diagnosis and enable the start of intensive treatment. This article provides a practical approach that deals with the general characteristics and the clinical keys for suspecting the most usual IEMs in the adult.

Enfermedades metabólicas de aparición en la edad adulta / Adult-onset metabolic diseases

Los errores congénitos del metabolismo (ECM)pueden debutar en la adolescencia y en la edad adulta.Aunque es difícil aportar datos exactos de prevalenciaya que existen escasos estudios al respecto, inclusoconsiderándolos poco frecuentes, la importancia de sudetección radica en las posibilidades terapéuticas y deconsejo genético familiar.La principal sintomatología de los ECMdel adulto esla neurológica, seguida de la hepática. Se puede establecerdos modos básicos de debut. Uno es el agudo, normalmenteen forma de alteración del nivel de conciencia,letargia, coma de etiología desconocida en un pacientepreviamente sano (déficits del ciclo de la urea, trastornosde la remetilación de la homocisteína y porfirias sonaquí las causas más frecuentes). Por otra parte está lasintomatología crónica, insidiosa, a menudo progresiva,en la que suele haber cuadros clínicos complejos, y másraramente un síntoma aislado de manera persistente (laenfermedad de Wilson, enfermedades mitocondriales,lisosomales, la enfermedad de Refsumy las glucogenosisson algunos ejemplos en este grupo).Es de especial importancia conocer las formas dedebut agudo, que suelen ser situaciones de extremaurgencia, en las que una conducta adecuada puede evitarel fallecimiento del paciente. En este caso, exámenessencillos de laboratorio como la determinación del amonio,homocisteína, lactato, acilcarnitinas, aminoácidos,ácidos orgánicos y porfirinas, pueden orientar el diagnósticoy permiten iniciar un tratamiento intensivo.En este capítulo se pretende realizar un enfoquepráctico, abordando las características generales y clavesclínicas de sospecha de los ECM más habituales enel adulto

Inborn errors of metabolism (IEM) can have theironset in adolescence or in adulthood. Although it isdifficult to contribute exact data on prevalence–because there are few studies in this respect, and IEMare regarded as infrequent– their detection is importantdue to the possibilities for therapy and family geneticcounselling.The main symptoms of IEM in the adult areneurological, followed by hepatic. Two basic modes ofonset can be established. One is acute, normally takingthe form of consciousness alteration, lethargy, coma ofunknown etiology in a previously healthy patient (ureacycle deficits, homocysteine remethylation disordersand porphyries are the most frequent causes). Theother is an insidious, often progressive, chronicsymptomathology that can involve complex clinicalfeatures, and more rarely a symptom that is isolated ina persistent way (Wilson’s disease, mitochondrialdiseases, lysosomal storage disorders, Refsum’sdisease and glycogenosis are some examples of thisgroup).It is especially important to determine the forms ofacute onset as these can present situations of extremeemergency where appropriate conduct can prevent thedeath of the patient. In this case, simple laboratoryexaminations, such as determination of ammonia,homocysteine, lactate, acylcarnitines, amino acids,organic and porfirines, can guide the diagnosis andenable the start of intensive treatment.This article provides a practical approach thatdeals with the general characteristics and the clinicalkeys for suspecting the most usual IEMs in the adult

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.

[Acute onset ataxia in infancy: its aetiology, treatment and follow-up]. / Ataxia de aparición aguda en la infancia: etiología, tratamiento y seguimiento.

INTRODUCTION: Acute childhood ataxia is a cause of referency to the pediatric emergency room. AIM. To characterize the etiology, clinical picture, management, and outcome of acute ataxia in our hospital. PATIENTS AND METHODS: A prospective study was undertaken including 39 children with acute ataxia who were admitted between January 1, 2001 and December 31, 2003. RESULTS: During the study period 159,002 episodes were evaluated, 39 children (0.024%) with acute ataxia. The most common diagnoses were post-infectious ataxia (51.2%) and toxic exposure (25.6%). The mean age at presentation in post-infectious ataxia was 55 +/- 27.61 months, 60% females. A prodromal febrile illness was noted in 95%: varicella (10), nonspecific viral infection (6), mycoplasma, enterovirus, and Epstein-Barr virus. The latency from the prodromal illness to the onset of ataxia was 5.86 +/- 3.78 days. Lumbar punctures were altered in 11/17. All computed tomography scans performed were normal. At follow up, one boy presented asymmetric signs of cerebellar dysfunction secondary to hemicerebellitis. The media of the patient who showed full-gait recovery was 18 days, and was complete in all children, except one boy who presented hemophagocytic lymphohistiocytosis. Toxic ingestion was the second most common cause. Boys less than 6 years were more commonly affected. CONCLUSIONS: Acute childhood ataxia are an uncommon cause of presentation to our pediatric emergency room. Postinfectious ataxia and drug ingestion are the most common diagnosis, with a usually benign and self-limited process. A thorough history and neurology examination should be guided to etiology. Neuroimaging studies and hospitalization are needed only if atypical presentation, asymmetric neurologic examination and prolonged ataxia.

Ataxia de aparición aguda en la infancia: etiología, tratamiento y seguimiento / Accute onset ataxia in indancy: its aetiology, treatment and follow-up

Introducción. La ataxia de aparición aguda en la infancia es una causa de referencia al Servicio de Urgencias de Pediatría. Objetivo. Describir la etiología, la actitud diagnóstico-terapéutica y el seguimiento de los niños que consultaron por ataxia aguda en urgencias. Pacientes y métodos. Estudio prospectivo de 39niños diagnosticados de ataxia aguda entre el 1 de enero de 2001y el 31 de diciembre de 2003. Resultados. Durante este período se valoraron 159.002 episodios, 39 niños (0,024%) presentaron una ataxia aguda. Las causas más frecuentes fueron: postinfecciosa (51,28%) e intoxicación (25,64%), seguidas de un grupo heterogéneo de patologías. En la ataxia postinfecciosa, la edad media fue55 ± 27,61 meses, el 60% niñas. El 95% tenía un cuadro infeccioso previo: varicela (10), viral inespecífica (6), micoplasma, enterovirus, y virus de Epstein-Barr. El tiempo de evolución hasta la aparición de ataxia fue 5,86 ± 3,78 días. El líquido cefalorraquídeo fue patológico en 11 de 17. La neuroimagen fue normal. Durante el seguimiento, un niño presentó focalidad hemicerebelosa secundaria a una hemicerebelitis. Todos se recuperaron (media: 18 días), excepto un niño que debutó con una linfohistiocitosis hemofagocítica. La intoxicación fue la segunda causa más frecuente, con predominio en niños (o varones) menores de 6 años. Conclusiones. Las ataxias agudas son un motivo de consulta infrecuente en urgencias. Las ataxias postinfecciosas y tras intoxicación son las más usuales y siguen por lo general un curso benigno y autolimitado. La historia clínica y exploración neurológica nos orientarán hacia la etiología. La neuroimagen y el ingreso hospitalario deberían reservarse para presentaciones atípicas, signos de focalidad neurológica y duración prolongada del cuadro (AU)

Introduction. Acute childhood ataxia is a cause of referency to the pediatric emergency room. Aim. To characterize the etiology, clinical picture, management, and outcome of acute ataxia in our hospital. Patients and methods. A prospective study was undertaken including 39 children with acute ataxia who were admitted between January 1, 2001 and December 31,2003. Results. During the study period 159,002 episodes were evaluated, 39 children (0.024%) with acute ataxia. The most common diagnoses were post-infectious ataxia (51.2%) and toxic exposure (25.6%). The mean age at presentation in postinfectiusataxia was 55 ± 27.61 months, 60% females. A prodromal febrile illness was noted in 95%: varicella (10), nonspecific viral infection (6), mycoplasma, enterovirus, and Epstein-Barr virus. The latency from the prodromal illness to the onset of ataxia was 5.86 ± 3.78 days. Lumbar punctures were altered in 11/17. All computed tomography scans performed were normal. At follow up, one boy presented asymmetric signs of cerebellar dysfunction secondary to hemicerebellitis. The media of the patient who showed full-gait recovery was 18 days, and was complete in all children, except one boy who presented hemophagocyticlymphohistiocytosis. Toxic ingestion was the second most common cause. Boys less than 6 years were more commonly affected. Conclusions. Acute childhood ataxia are an uncommon cause of presentation to our pediatric emergency room. Post infectious ataxia and drug ingestion are the most common diagnosis, with a usually benign and self-limited process. A thorough history and neurology examination should be guided to etiology. Neuroimaging studies and hospitalization are needed only if atypical presentation, asymmetric neurologic examination and prolonged ataxia (AU)

Epilepsia en edad escolar con crisis intratables que empeoran a pesar del tratamiento farmacológico / Epilepsy in a school-aged child with refractory crises worsening despite medica

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[Apraxia of gait: an acquired sequela with a poor prognosis]. / Apraxia de la marcha: una secuela adquirida de evolución desfavorable.

INTRODUCTION: Gait apraxia is not used to be considered as a diagnostic entity in Pediatric Neurology. CASE REPORTS: We present two pediatric patients that, after to have acquired normal gait and in consequence of a acute process, they lost the capacity to walk. In spite of intensive rehabilitation treatment hold along various years, they had not been able to help them. Both injury were very dissimilar; in one of them was affected the precentral and paracentral cortex in consequence of an encephalitic process. In the other, the basal ganglia and the hippocampus after a situation of near-drowning at the age of 15 months. CONCLUSION: The mechanism of this disorder is discussed and emphasis is done in its badly long-term prognosis.

Apraxia de la marcha: una secuela adquirida de evolución desfavorable / Apraxia of gait: an acquired sequela with a poor prognosis

Introducción. La apraxia de la marcha es una entidad que no se tiene en cuenta en la práctica de la Neurología infantil. Casos clínicos. Se presentan dos pacientes pediátricos que, tras adquirir la marcha, y a consecuencia de un proceso agudo, perdieron la capacidad de caminar, sin que las intensivas técnicas de rehabilitación hayan podido ayudarles a lo largo de varios años. Las lesiones eran heterogéneas en ambos casos, ya que en el primero resultó afectad la corteza precentral y paracentral a consecuencia de un proceso inflamatorio de tipo encefalítico, y en el otro, los núcleos de la base cerebral y los hipocampos, a consecuencia de una situación de casi ahogamiento a la edad de 15 meses. Conclusión. Se discuten los mecanismos atribuidos a estos trastornos y se hace hincapié en su mal pronóstico a largo plazo

Introduction. Gait apraxia is not used to be considered as a diagnostic entitiy in Pediatric Neurology. Case reports. We present two pediatric patients that, after to have acquired normal gait and in consequence of a acute process, they lost the capacity to walk. In spite of intensive rehabilitation treatement hold along various years, they had not been able to help them. Both injury were very dissimilar; in one of them was affected the precentral and paracentral cortex in consequence of an encephalitic process. In the other, the basal ganglia and the hippocampus after a situation of near-drowning at the age of 15 months. Conclusion. The mechanism of this disorder is discussed and emphasis is done in its badly long-term prognosis

[Idiopathic catastrophic epileptic encephalopathy: an untreatable convulsive malady in infancy]. / Encefalopatía epiléptica catastrófica idiopática: una forma intratable de estado de mal convulsivo en la infancia.

AIM: To present a case of catastrophic childhood epileptic syndrome with multifocal status epilepticus. CASE REPORT: A 4 years old boy with a multifocal status epilepticus of unknown origin which could only be controlled along some days with thiopentone enough to cause electrical suppression, and relapsed again after having stopped it. CONCLUSION: But for very high doses of barbiturates, any antiepileptic drug could control or improve the convulsions. MRI, initially normal, was followed by a progressive cerebral and cerebellar atrophy and the boy survived with heavy neurological secuelae.

Encefalopatía epiléptica catastrófica idiopática: una forma intratable de estado de mal convulsivo en la infancia / Idiopathic catastrophic epileptic encephalopathy: an untreatable convulsive malady in infancy

Objetivo. Presentar un caso de estado de mal intratable con crisis multifocales de origen desconocido. Caso clínico. Niño de 4 años de edad, sano y con buen desarrollo psicomotor, que desarrolla un estado de mal incontrolable, excepto cuando se logra silencio electroencefalográfico mediante coma barbitúrico, y que reinicia el estado convulsivo al disminuir la intensidad del mismo. Conclusión. Pese al correcto tratamiento utilizado, ningún fármaco es capaz de controlar el estado convulsivo. Aparece una atrofia cerebral progresiva a lo largo de los meses y el paciente queda con gravísimas secuelas psicofísicas. Este tipo de proceso se ha identificado recientemente en la bibliografía como encefalopatía epiléptica catastrófica idiopática (AU)

Aim. To present a case of catastrophic childhood epileptic syndrome whit multifocal status epilepticus. Case report. A 4 years old boy with a multifocal status epilepticus of unknown origin which could only be controlled along some days with thiopentone enough to cause electrical suppression, and relapsed again after having stopped it. Conclusion. But for very high doses of barbiturates, any antiepileptic drug could control or improve the convulsions. MRI, initially normal, was followed by a progressive cerebral and cerebellar atrophy and the boy survived with heavy neurological secuelae (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.

Epilepsias idiopáticas: aspectos terapéuticos / Idiopathic epilepsies: some therapeutic aspects

Objetivos. Precisar la orientación terapéutica en las epilepsias y síndrome epilépticos idiopáticos relacionados con la localización y generalizados. Desarrollo. Se ha revisado la bibliografía reciente relevante, así como la praxis de dos unidades de neurología pediátrica entre los años 2000 y 2003 sobre un total de118 pacientes. Con relación a los casos relacionados con la localización se recomienda: 1. Tratamiento con monoterapia; 2. Dosis bajas, dado que cualquier fármaco antiepiléptico puede agravar una epilepsia y en especialla EBIR; 3. Si las crisis empeoran con tratamiento, disminuir las dosis en vez de aumentarla; 4) Carbamacepina (CBZ) y oxcarbacepina (OXC) son fármacos de primera intención; clobazam (CLB) está indicado en la EBIO y en algunas EPBI atípicas, en las que ocasionalmente los esteroides en monoterapia pueden ser útiles; el valproato (VPA) es una alternativa para intolerancias y agravaciones, y 5. Tratamiento de dos años, control de agravación con electroencefalograma (EEG). Por lo que refiere a las epilepsias generalizadas idiopáticas: 1. El VPA en monoterapia es de elección en todas las formas, controlando el 48 por ciento; el 18 por ciento se controla con VPA + lamotrigina (LTG); 2. La epilepsia-ausencia de la infancia se controla un 50 por ciento con VPA y un 85 por ciento con VPA + etosuximida (ESM); 3. LTG, CLB, topiramato (TPM) y Rivotril® (CZP) son alternativas a considerar en todos los tipos de epilepsias y síndromes con farmacorresistencia, y 4. En la CGTC elegir VPA, en bajas dosis en la epilepsia mioclónica juvenil de Janz (AU)

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 (AU)