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Abusive head trauma (AHT) is defined as an injury to the skull or intracranial contents due to inflicted blunt impact and/or shaking. It is characterized by the triad: encephalopathy, retinal haemorrhages and subdural hematoma. The main objective is to know the epidemiological, clinical and radiological characteristics; as well as the short and long term outcomes of patients diagnosed with AHT.It is a descriptive, observational and retrospective study of the 19 patients diagnosed with AHT at a tertiary hospital from 1990 to 2018, both included.The mean age of the patients was 5,5 months with parity between both sexes. The principal medical histories reported were: absence of trauma (n = 9), history of a short fall (n = 6) and shaking (n = 4). The most frequent initial presentation was severe, and seizures was the main symptom (n = 8). Retinal haemorrhages were present in fifteen patients and subdural hematoma or hygroma in fifteen patients. Two patients died, seven presented short-term outcomes, and ten of the twelve patients who were performed a follow-up presented long-term outcomes. These outcomes were manifested as cognitive or behavioural disorders (n = 5) or as neurological disorders (n = 6).The epidemiological, clinical and radiological characteristics found are very similar to those reported in the literature. The prevalence of outcomes is high and they appear as cognitive or behavioural disorders.Traumatismo craneal por maltrato. Revisión de nuestra experiencia.Introducción. El traumatismo craneal por maltrato (TCM) se define como todo traumatismo que ocasiona lesiones intracraneales debido a un impacto directo infligido y/o zarandeo, y se caracteriza por la tríada de encefalopatía, hemorragias retinianas y hematoma subdural. El objetivo de este estudio es conocer las características epidemiológicas, clínicas y radiológicas, así como las secuelas de los pacientes diagnosticados de TCM. Pacientes y métodos. Estudio descriptivo observacional retrospectivo de los 19 pacientes diagnosticados de TCM en un hospital terciario entre 1990 y 2018, ambos inclusive. Resultados. La edad media de los afectados fue de 5,5 meses y existe paridad entre ambos sexos. Las anamnesis aportadas por los cuidadores fueron: ausencia de traumatismo (n = 9), antecedente de caída (n = 6) y zarandeo (n = 4). La clínica inicial más prevalente fueron los síntomas graves, y las convulsiones fueron el síntoma más frecuente (n = 8). Quince pacientes presentaron hemorragias retinianas y otros 15, hematoma subdural o higroma. Dos pacientes fallecieron, siete presentaron secuelas en el alta y 10 de los 12 pacientes en los que se realizó seguimiento presentaron secuelas tardías manifestadas como secuelas cognitivas/comportamiento (n = 5) o como secuelas neurológicas (n = 6). Conclusiones. Las características epidemiológicas, clínicas y radiológicas son muy similares a las publicadas en la bibliografía. La presencia de secuelas es prevalente y éstas se manifiestan tanto como problemas cognitivos y de comportamiento como por secuelas neurológicas.

To determine the characteristics of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital.We conducted a retrospective descriptive study involving a review of the epidemiological data, reasons for visiting, diagnoses and complementary studies of the patients treated by a metabolic disease unit over a period of 6 years and 11 months.Altogether 1012 patients were evaluated. There was a predominance of males (52%) and of patients under the age of 1 year (42.09%). 71.44% of them were under 6 years old. Approximately half of the patients (50.3%) came from hospitals (wards, outpatients, neonatology, emergency department, neuropaediatrics and intensive care), followed by the neonatal screening programme (20.36%) and primary care (14.82%). The most frequent reasons for visiting and diagnoses can be seen in their respective tables.The study of the demand for health care in hereditary-metabolic diseases is useful as a means to detect needs in their field and to try to adapt care to meet them. Medical, scientific and social progress makes it necessary to have an expert in metabolism present in reference clinical units. As members of multidisciplinary teams alongside other specialists, they will contribute towards accomplishing a suitable presumptive diagnosis, diagnosis, management and follow-up. It is necessary to keep them constantly up-to-date and ensure adequate training of new experts in metabolism, since this is the best way to deliver optimal care for those with metabolic illnesses, which are usually rare diseases.Estudio de la demanda asistencial de las enfermedades metabolico-hereditarias en un hospital español de tercer nivel.Objetivo. Conocer las caracteristicas de la demanda asistencial de las enfermedades metabolico-hereditarias en un hospital español de tercer nivel. Pacientes y metodos. Estudio descriptivo retrospectivo en el que se revisan los datos epidemiologicos, los motivos de consulta, los diagnosticos y los estudios complementarios de los pacientes atendidos por la unidad de enfermedades metabolicas durante un periodo de 6 años y 11 meses. Resultados. Se valoraron un total de 1.012 pacientes. Hay un predominio de varones (52%) y de pacientes menores de 1 año (42,09%). El 71,44% son menores de 6 años. Los pacientes provienen en un 50,3% del ambito hospitalario (planta, consultas externas, neonatologia, urgencias, neuropediatria y cuidados intensivos), seguido del programa de cribado neonatal (20,36%) y de atencion primaria (14,82%). Conclusiones. El estudio de la demanda asistencial de las enfermedades metabolico-hereditarias es util para detectar necesidades en su campo y tratar de adecuar la asistencia a estas. Los avances medicos, cientificos y sociales hacen necesaria la existencia del experto en metabolismo en unidades clinicas de referencia, integrado en equipos multidisciplinares con otros especialistas, para una adecuada sospecha, diagnostico, manejo y seguimiento. Debe estar en continua actualizacion y garantizar la adecuada formacion de nuevos expertos en metabolismo, la mejor via para una optima atencion de los pacientes afectados de enfermedades metabolicas, habitualmente enfermedades raras.

Resumen: Introducción: El retraso global del desarrollo (RGD) y la discapacidad intelectual (DI) son motivos de consulta frecuentes en la práctica neuropediátrica. El rendimiento de los estudios diagnósticos en niños con RGD/DI varía ampliamente y, en consecuencia, no hay acuerdo universal respecto a los estudios que se deben realizar. Material y método: Revisamos nuestra experiencia en el diagnóstico etiológico de los niños con RGD/DI valorados en la consulta de Neuropediatría durante un periodo de 5 años: 2006-2010. Resultados: Durante el periodo de estudio fueron valorados 995 niños con RGD/DI. El diagnóstico etiológico fue establecido en 309 (31%) y no en 686 (69%), a pesar de múltiples estudios realizados. En 142 niños, el 46% de los casos con diagnóstico etiológico establecido, la causa es genética: 118 encefalopatías genéticas y 24 enfermedades metabólicas hereditarias. Nuestros datos indican que establecer un diagnóstico etiológico es más fácil cuando el RGD/DI está asociado a parálisis cerebral infantil, epilepsia, espasmos infantiles/síndrome de West o déficit visual, pero más difícil en casos de trastorno del espectro autista. Los estudios genéticos están incrementando los diagnósticos etiológicos y constituyéndose en el primer escalón de estudio. El microarray comparative genomic hybridisation es la prueba con mayor rentabilidad diagnóstica en el estudio de RGD/DI. Discusión: El coste-efectividad de los exámenes complementarios es aparentemente bajo en ausencia de orientación clínica. Incluso en ausencia de tratamiento, el diagnóstico etiológico es importante para establecer un consejo genético y posible diagnóstico prenatal, resolver cuestiones a padres y profesionales, y cesar la realización de más pruebas complementarias. Abstract: Introduction: Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. Material and method: We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. Results: During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. Discussion: The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors’) queries, and halt further diagnostic studies. Palabras clave: Retraso psicomotor global, Discapacidad intelectual, Diagnóstico etiológico, Microarray comparative genomic hybridisation, Keywords: Global developmental delay, Intellectual disability, Microarray comparative genomic hybridisation

Introduction: Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. Material and method: We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. Results: During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. Discussion: The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors’) queries, and halt further diagnostic studies. Resumen: Introducción: El retraso global del desarrollo (RGD) y la discapacidad intelectual (DI) son motivos de consulta frecuentes en la práctica neuropediátrica. El rendimiento de los estudios diagnósticos en niños con RGD/DI varía ampliamente y, en consecuencia, no hay acuerdo universal respecto a los estudios que se deben realizar. Material y método: Revisamos nuestra experiencia en el diagnóstico etiológico de los niños con RGD/DI valorados en la consulta de Neuropediatría durante un periodo de 5 años: 2006-2010. Resultados: Durante el periodo de estudio fueron valorados 995 niños con RGD/DI. El diagnóstico etiológico fue establecido en 309 (31%) y no en 686 (69%), a pesar de múltiples estudios realizados. En 142 niños, el 46% de los casos con diagnóstico etiológico establecido, la causa es genética: 118 encefalopatías genéticas y 24 enfermedades metabólicas hereditarias. Nuestros datos indican que establecer un diagnóstico etiológico es más fácil cuando el RGD/DI está asociado a parálisis cerebral infantil, epilepsia, espasmos infantiles/síndrome de West o déficit visual, pero más difícil en casos de trastorno del espectro autista. Los estudios genéticos están incrementando los diagnósticos etiológicos y constituyéndose en el primer escalón de estudio. El microarray comparative genomic hybridisation es la prueba con mayor rentabilidad diagnóstica en el estudio de RGD/DI. Discusión: El coste-efectividad de los exámenes complementarios es aparentemente bajo en ausencia de orientación clínica. Incluso en ausencia de tratamiento, el diagnóstico etiológico es importante para establecer un consejo genético y posible diagnóstico prenatal, resolver cuestiones a padres y profesionales, y cesar la realización de más pruebas complementarias. Keywords: Global developmental delay, Intellectual disability, Microarray comparative genomic hybridisation, Palabras clave: Retraso psicomotor global, Discapacidad intelectual, Diagnóstico etiológico, Microarray comparative genomic hybridisation

Introduccion. Los pacientes con neurofibromatosis de tipo 1 (NF1) tienen una gran predisposicion a desarrollar deficit de atencion. El objetivo del estudio es determinar los pacientes controlados en nuestra seccion de neuropediatria con NF1 y diagnostico de trastorno por deficit de atencion/hiperactividad (TDAH), valorando la adhesion y respuesta al tratamiento. Pacientes y metodos. Se identifica a los pacientes afectos de NF1 que siguen controlados entre el 31 de diciembre de 2015 y el 31 de junio de 2017, y de ellos, los que presentan diagnostico de TDAH, revisando datos clinicos y de tratamiento. Resultados. Se ha controlado a 56 pacientes afectos de NF1, con una edad media de 9,83 ± 4,17 anos. De ellos, 23 (41%) presentan diagnostico clinico de TDAH, con una edad media de 7,53 ± 2,46 anos en el momento del diagnostico. El 48,8% de los ninos en edad escolar esta afecto de TDAH. Todos los pacientes menos uno recibieron tratamiento con estimulantes, con un tiempo medio de tratamiento de 3,85 ± 3,04 anos. Continuan con el tratamiento 19 pacientes de los 22 tratados (86%). Once casos refieren una clara mejoria, y ocho, una mejoria moderada. Conclusiones. El TDAH es muy prevalente en ninos con NF1. Se destaca la importancia de la identificacion y el tratamiento del TDAH en ninos afectos de NF1. Nuestra revision muestra una buena adhesion al tratamiento con estimulantes, con mantenida buena respuesta en la mayor parte de los casos.

Resumen: Introducción: El síndrome de Prader-Willi (SPW) y el síndrome de Angelman (SA), fueron los primeros síndromes en la especie humana que se conocieron sujetos a fenómenos de impronta genómica (imprinting). Se revisa nuestra experiencia de 21 años en SPW y SA confirmados genéticamente. Resultados: De 13.875 pacientes del período de estudio, 11 fueron diagnosticados de SPW (18%), 7 varones (63,6%) y 4 mujeres (36,4%), con una edad media de 9,06 ãnos (+/- 6,92, rango: 0,68-21,6); el tiempo de seguimiento de este grupo era de 3,83 ãnos (+/- 4,03, rango: 0,49-15,3), siendo la edad al diagnóstico de 4,40 ãnos (+/- 6,84, rango: 0,03-19,38). El 72,7% de los pacientes afectos de SPW presentaban una disomía uniparental y un 27,3% una deleción paterna. En cuanto al SA, fueron diagnosticados 6 (8%), 4 mujeres (66,6%) y 2 varones (33,4%), con una edad media de 14,65 años (+/- 11,89, rango: 1,3-30,7); tiempo de seguimiento de 6,76 ãnos (+/- 5,89,rango: 0,16-15), siendo la edad al diagnóstico de 8,84 ãnos (+/- 9,11, rango: 1,10-23). El 83,3% de los pacientes afectos de SA presentaban una deleción materna y un 16,7% de una disomía uniparental. Las características clínicas son concordantes con las referidas en la literatura. Discusión: conforme se realizan avances genéticos se confirman antes estas patologías. En nuestra serie, al contrario que los datos de la literatura, la mayoría de los sujetos diagnosticados de SPW (72’3%) presentaban disomía uniparental. Estudios recientes correlacionan el genotipo con el fenotipo, en SPW más grave si se produce deleción y en SA más leve en caso de disomía uniparental. Conclusión: Los estudios genéticos deben realizarse antes de que los cuadros clínicos estén establecidos: hipotonía neonatal de causa no identificada en SPW y valorar ante retrasos psicomotores con rasgos autistas, especialmente asociados a epilepsia en SA, para evitar incertidumbres diagnósticas, exámenes complementarios innecesarios y establecer un precoz asesoramiento genético. Abstract: Introduction: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) were the first syndromes in humans that were known to originate from the phenomenon of the genomic imprinting. We review our experience of 21 years with PWS and AS that were confirmed with the genetically. Results: Of the 13,875 patients recorded during the study period, 11 were diagnosed with PWS (18%), 7 males (63.6%) and 4 females (36.4%), with a mean age of 9.06 years (+/- 6.92, range: 0.68-21.6). The time of the follow up of this group was 3.83 years (+/- 4.03, range: 0.49-15.3), and the age at diagnosis was 4.4 years (+/- 6.84, range: 0.03-19.38). Almost three quarters (72.7% of the PWS patients had a uniparental dysomy and 27.3% a paternal deletion. Six patients (8%) were diagnosed with AS, 4 females (66.6%) and 2 males (33.4%), with a mean age of 14.65 years (+/- 11.89, range: 1.3-30.7). The time of follow up was 6.76 years (+/- 5.89,range: 0.16-15), and the age at diagnosis was 8.84 years (+/- 9.11, range: 1.10-23). A maternal deletion was present in 83.3% of the AS patients and 16.7% had a maternal dysomy. Discussion: As genetic advances are made these pathologies are confirmed before. Unlike the data in the literature, in our series most patients diagnosed with PWS (72’3%) had uniparental disomy. Recent studies correlation genotype with phenotype, in PWS is more serious if it occurs a deletion and in SA is milder in the case of uniparental disomy. Conclusions: Genetic studies must be performed in view of the established clinical symptoms: neonatal hypotonia of unknown cause in PWS and psychomotor deficits with autism features, particularly associated with epilepsy, must be evaluated in AS to prevent diagnostic uncertainties, unnecessary complementary examinations and to provide early genetic counselling.

Introduction: We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children seen by paediatric neurologists. They can be of disruptive origin (due to vascular problems, drugs, toxins or congenital infections), and genetically determined. We include cases of autism spectrum disorder and mental retardation with no history of perinatal of postnatal damages. Material and methods: We analysed our 19-year neuro-paediatric data base in search of prenatal encephalopathies and their diagnostic origin. We also analyse the studies made in the cases with a diagnosis of unknown origin. Results: The 19-year period of study in the data base included 11,910 children, and 1596 (13.5%) were considered as prenatal encephalopathies; 1307 children (81.4%) had a diagnosis of unknown origin, despite many investigations being done in a large number of them. Discussion: Most of the children included in this study suffer a rare disease, and whether they are identified or not, they increasingly require an early diagnosis. Peroxisomal, mitochondrial, lysosomal diseases, carbohydrate glycosylation deficiency syndrome and other inborn error of metabolism, congenital infections and genetic encephalopathies, can be clinically indistinguishable in early life and require specific studies to identify them. Early diagnosis requires strategies using step-wise systematic studies, giving priority to those diseases that could be treated, and in many cases using an individualised approach. We believe that the potential benefits of early diagnosis, including savings on further studies, genetic counselling and prenatal diagnosis, overcome the financial costs. Resumen: Introducción: Consideramos encefalopatías prenatales las que tienen datos clínicos o prenatales de encefalopatía antes del nacimiento. Afectan a un número importante de niños controlados en las consultas de neuropediatría. Pueden ser disruptivas (por problemas vasculares durante el embarazo, drogas, tóxicos o infecciones congénitas), y genéticamente determinadas. Incluimos casos de trastorno del espectro autista y retardo mental sin historia de sufrimiento perinatal o postnatal. Material y métodos: Se revisa nuestra experiencia en el diagnóstico etiológico de las encefalopatías prenatales durante los últimos 19 años. Se analizan los estudios realizados en los casos sin diagnóstico etiológico. Resultados: En el periodo de estudio de 19 años y 5 meses, en la base de datos de neuropediatría figuran 11.910 niños. Tienen establecido el diagnóstico de encefalopatía prenatal 1596 (13,5%). De ellos no tienen diagnóstico etiológico preciso 1.307 niños (81,4%) pese a habérseles realizado múltiples estudios complementarios, fundamentalmente bioquímicos, genéticos y de neuroimagen. Discusión: Muchos de los niños incluidos en este estudio presentan enfermedades raras, estén o no identificadas, que demandan crecientemente un diagnóstico precoz. Enfermedades peroxisomales, lisosomales, mitocondriales, defectos congénitos de la glucosilación, entre otras enfermedades metabólicas hereditarias, infecciones congénitas, cromosomopatías y genopatías, pueden ser indistinguibles clínicamente y necesitan estudios específicos para su identificación. Un diagnóstico precoz precisa estrategias de estudios sistemáticos de forma escalonada, priorizando las enfermedades que tienen posibilidades terapéuticas y en muchos casos es necesaria también una aproximación individualizada. Creemos que las ventajas potenciales del diagnóstico precoz, incluido el ahorro de más pruebas, y la prevención, probablemente sobrepasan el gasto financiero. Keywords: Biochemical studies, Early diagnosis: aetiological diagnosis, Genetic studies, Neuroimaging, Prenatal encephalopathies, Rare diseases, Palabras clave: Diagnóstico etiológico, Diagnóstico precoz, Encefalopatías prenatales, Enfermedades raras, Estudios bioquímicos, Estudios genéticos, Neuroimagen

Resumen: Introducción: Consideramos encefalopatías prenatales las que tienen datos clínicos o prenatales de encefalopatía antes del nacimiento. Afectan a un número importante de niños controlados en las consultas de neuropediatría. Pueden ser disruptivas (por problemas vasculares durante el embarazo, drogas, tóxicos o infecciones congénitas), y genéticamente determinadas. Incluimos casos de trastorno del espectro autista y retardo mental sin historia de sufrimiento perinatal o postnatal. Material y métodos: Se revisa nuestra experiencia en el diagnóstico etiológico de las encefalopatías prenatales durante los últimos 19 años. Se analizan los estudios realizados en los casos sin diagnóstico etiológico. Resultados: En el periodo de estudio de 19 años y 5 meses, en la base de datos de neuropediatría figuran 11.910 niños. Tienen establecido el diagnóstico de encefalopatía prenatal 1596 (13,5%). De ellos no tienen diagnóstico etiológico preciso 1.307 niños (81,4%) pese a habérseles realizado múltiples estudios complementarios, fundamentalmente bioquímicos, genéticos y de neuroimagen. Discusión: Muchos de los niños incluidos en este estudio presentan enfermedades raras, estén o no identificadas, que demandan crecientemente un diagnóstico precoz. Enfermedades peroxisomales, lisosomales, mitocondriales, defectos congénitos de la glucosilación, entre otras enfermedades metabólicas hereditarias, infecciones congénitas, cromosomopatías y genopatías, pueden ser indistinguibles clínicamente y necesitan estudios específicos para su identificación. Un diagnóstico precoz precisa estrategias de estudios sistemáticos de forma escalonada, priorizando las enfermedades que tienen posibilidades terapéuticas y en muchos casos es necesaria también una aproximación individualizada. Creemos que las ventajas potenciales del diagnóstico precoz, incluido el ahorro de más pruebas, y la prevención, probablemente sobrepasan el gasto financiero. Abstract: Introduction: We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children seen by paediatric neurologists. They can be of disruptive origin (due to vascular problems, drugs, toxins or congenital infections), and genetically determined. We include cases of autism spectrum disorder and mental retardation with no history of perinatal of postnatal damages. Material and methods: We analysed our 19 year neuro-paediatric data base in search of prenatal encephalopathies and their diagnostic origin. We also analyse the studies made in the cases with a diagnosis of unknown origin. Results: The 19 year period of study in the data base included 11,910 children, and 1596 (13.5%) were considered as prenatal encephalopathies; 1307 children (81.4%) had a diagnosis of unknown origin, despite many investigations being done in a large number of them. Discussion: Most of the children included in this study suffer a rare disease, and whether they are identified or not, they increasingly require an early diagnosis. Peroxisomal, mitochondrial, lysosomal diseases, carbohydrate glycosylation deficiency syndrome and other inborn error of metabolism, congenital infections and genetic encephalopathies, can be clinically indistinguishable in early life and require specific studies to identify them. Early diagnosis requires strategies using step-wise systematic studies, giving priority to those diseases that could be treated, and in many cases using an individualised approach. We believe that the potential benefits of early diagnosis, including savings on further studies, genetic counselling and prenatal diagnosis, overcome the financial costs. Palabras clave: Diagnóstico etiológico, Diagnóstico precoz, Encefalopatías prenatales, Enfermedades raras, Estudios bioquímicos, Estudios genéticos, Neuroimagen, Keywords: Biochemical studies, Early diagnosis: aetiological diagnosis, Genetic studies, Neuroimaging, Prenatal encephalopathies, Rare diseases

Resumen: Introducción: El pronóstico de la epilepsia está determinado fundamentalmente por la etiología; se asocia en general peor evolución con comienzo precoz de las crisis. Material y métodos: Se revisa nuestra experiencia en epilepsia en niños nacidos después del 1-1-1997 y que presentaron la primera crisis antes de enero de 2008 a los 1-3 meses de edad. Resultados: Se incluyen 18 casos con el diagnóstico de epilepsia y primera crisis entre 1 y 3 meses de edad. Un caso corresponde al espectro de síndrome de Dravet con la mutación en heterocigosis c829 T>G c277G del gen SCN1A. Cuatro son epilepsias criptogénicas y 13, sintomáticas: 2 errores congénitos del metabolismo (deficiencia de biotinidasa con respuesta a biotina y síndrome de Leigh), 2 de etiología infecciosa y los 9 restantes, encefalopatías prenatales; 9 (50%) tienen un grave retraso psicomotor en la actualidad y 2 fallecieron. En comparación, los casos criptogénicos tuvieron peor evolución. Conclusiones: Nuestra experiencia corrobora el mal pronóstico asociado al inicio precoz, entre 1 y 3 meses, de las crisis epilépticas. Dado el amplio abanico etiológico y el pronóstico sombrío, en ausencia de tratamiento específico, es obligada una adecuada estrategia diagnóstico-terapéutica que evite incertidumbres diagnósticas e identifique casos potencialmente tratables como algunos errores congénitos del metabolismo. En este grupo de edad el protocolo de convulsiones de causa no aclarada debe ser el mismo que el de las convulsiones neonatales, incluido el tratamiento con cóctel vitamínico, tras la recogida de muestras biológicas. Abstract: Introduction: The prognosis of epilepsy is basically determined by its aetiology. Early onset of seizures is generally associated with poor progress. Material and methods: We review our experience in epilepsy with children born after 1 January 1997 and who had their first seizure between 1 and 3 months of age before January 2008. Results: Eighteen cases diagnosed with epilepsy and a first seizure between 1 and 3 months of age were included. One case was within the Dravet syndrome spectrum with the c829 T>G c277G heterozygous mutation of the SCN1A gene. Four were cryptogenic epilepsies and thirteen were asymptomatic: 2 were inborn errors of metabolism (biotinidase deficiency with a response to biotin and Leigh's syndrome); 2 were of infectious origin and the remaining nine prenatal encephalopathy. Nine (50%) currently have a severe psychomotor delay and 2 died. The cryptogenic cases had a relatively poor progress. Conclusions: Our experience corroborates the poor prognosis associated with early onset, between 1 and 3 months, of epileptic seizures. Given the wide aetiological range and the poor prognosis in the absence of specific treatment, an appropriate diagnostic-therapeutic strategy is required to avoid diagnostic uncertainties and can identify potentially treatable cases, such as some inborn errors of metabolism. In this age group, the protocol for convulsions of unknown cause must be the same as that for neonatal convulsions, including treatment with a vitamin cocktail, after collecting biological samples. Palabras clave: Déficit de biotinidasa, Epilepsia, Epilepsias criptogénicas, Epilepsias sintomáticas, Error congénito del metabolismo, Lactante, Retraso psicomotor, Síndrome de Dravet, Keywords: Biotinidase deficiency, Epilepsy, Cryptogenic epilepsy, Symptomatic epilepsy, Inborn error of metabolism, Infancy, Psychomotor delay, Dravet's syndrome

Resumen: Presentamos el caso de un varón de 13 años diagnosticado de displasia fibromuscular (DFM) por estudio angiográfico, con imagen “arrosariada” de la carótida interna, tras presentar 2 ictus isquémicos en 9 días. Se decidió tratamiento conservador con ácido acetilsalicílico en dosis antiagregantes. Veinte meses después, la evolución clínica es favorable, sin que haya presentado nuevos episodios.La DFM es una causa muy poco frecuente de ictus en la infancia. Se conoce poco acerca de su etiología. A pesar de tratarse de una entidad habitualmente asintomática, debemos pensar en su existencia ante ictus repetidos o no explicables por otra causa. Su pronóstico y tratamiento son controvertidos debido al escaso número de pacientes en edad pediátrica con esta enfermedad. Abstract: We present the case of a 13 year-old patient diagnosed with fibromuscular dysplasia (FMD) by angiographic study, with “string of beads” image of internal carotid, after undergoing two ischemic strokes in nine days. Conservative treatment with acetylsalicylic acid at antiaggregant doses was decided. Twenty months later the clinical progress is favorable without presenting any new episodes. FMD is a very uncommon cause of stroke in childhood. Little is known about its etiology. In spite of it usually being an asymptomatic disease, it must be considered in cases of repeated or inexplicable strokes. Its prognosis and treatment is controversial, due to the limited number of pediatric patients with this pathology.

AIM To determine the characteristics of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital. PATIENTS AND METHODS We conducted a retrospective descriptive study involving a review of the epidemiological data, reasons for visiting, diagnoses and complementary studies of the patients treated by a metabolic disease unit over a period of 6 years and 11 months. RESULTS Altogether 1012 patients were evaluated. There was a predominance of males (52%) and of patients under the age of 1 year (42.09%). 71.44% of them were under 6 years old. Approximately half of the patients (50.3%) came from hospitals (wards, outpatients, neonatology, emergency department, neuropaediatrics and intensive care), followed by the neonatal screening programme (20.36%) and primary care (14.82%). The most frequent reasons for visiting and diagnoses can be seen in their respective tables. CONCLUSIONS The study of the demand for health care in hereditary-metabolic diseases is useful as a means to detect needs in their field and to try to adapt care to meet them. Medical, scientific and social progress makes it necessary to have an expert in metabolism present in reference clinical units. As members of multidisciplinary teams alongside other specialists, they will contribute towards accomplishing a suitable presumptive diagnosis, diagnosis, management and follow-up. It is necessary to keep them constantly up-to-date and ensure adequate training of new experts in metabolism, since this is the best way to deliver optimal care for those with metabolic illnesses, which are usually rare diseases.

Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed.We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010.During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID.The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors') queries, and halt further diagnostic studies.

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) were the first syndromes in humans that were known to originate from the phenomenon of the genomic imprinting. We review our experience of 21 years with PWS and AS that were confirmed with the genetically.Of the 13,875 patients recorded during the study period, 11 were diagnosed with PWS (18%), 7 males (63.6%) and 4 females (36.4%), with a mean age of 9.06 years (+/- 6.92, range: 0.68-21.6). The time of the follow up of this group was 3.83 years (+/- 4.03, range: 0.49-15.3), and the age at diagnosis was 4.4 years (+/- 6.84, range: 0.03-19.38). Almost three quarters (72.7% of the PWS patients had a uniparental dysomy and 27.3% a paternal deletion. Six patients (8%) were diagnosed with AS, 4 females (66.6%) and 2 males (33.4%), with a mean age of 14.65 years (+/- 11.89, range: 1.3-30.7). The time of follow up was 6.76 years (+/- 5.89,range: 0.16-15), and the age at diagnosis was 8.84 years (+/- 9.11, range: 1.10-23). A maternal deletion was present in 83.3% of the AS patients and 16.7% had a maternal dysomy.As genetic advances are made these pathologies are confirmed before. Unlike the data in the literature, in our series most patients diagnosed with PWS (72'3%) had uniparental disomy. Recent studies correlation genotype with phenotype, in PWS is more serious if it occurs a deletion and in SA is milder in the case of uniparental disomy.Genetic studies must be performed in view of the established clinical symptoms: neonatal hypotonia of unknown cause in PWS and psychomotor deficits with autism features, particularly associated with epilepsy, must be evaluated in AS to prevent diagnostic uncertainties, unnecessary complementary examinations and to provide early genetic counselling.

We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children seen by paediatric neurologists. They can be of disruptive origin (due to vascular problems, drugs, toxins or congenital infections), and genetically determined. We include cases of autism spectrum disorder and mental retardation with no history of perinatal of postnatal damages.We analysed our 19 year neuro-paediatric data base in search of prenatal encephalopathies and their diagnostic origin. We also analyse the studies made in the cases with a diagnosis of unknown origin.The 19 year period of study in the data base included 11,910 children, and 1596 (13.5%) were considered as prenatal encephalopathies; 1307 children (81.4%) had a diagnosis of unknown origin, despite many investigations being done in a large number of them.Most of the children included in this study suffer a rare disease, and whether they are identified or not, they increasingly require an early diagnosis. Peroxisomal, mitochondrial, lysosomal diseases, carbohydrate glycosylation deficiency syndrome and other inborn error of metabolism, congenital infections and genetic encephalopathies, can be clinically indistinguishable in early life and require specific studies to identify them. Early diagnosis requires strategies using step-wise systematic studies, giving priority to those diseases that could be treated, and in many cases using an individualised approach. We believe that the potential benefits of early diagnosis, including savings on further studies, genetic counselling and prenatal diagnosis, overcome the financial costs.

The prognosis of epilepsy is basically determined by its aetiology. Early onset of seizures is generally associated with poor progress.We review our experience in epilepsy with children born after 1 January 1997 and who had their first seizure between 1 and 3 months of age before January 2008.Eighteen cases diagnosed with epilepsy and a first seizure between 1 and 3 months of age were included. One case was within the Dravet syndrome spectrum with the c829 TG c277G heterozygous mutation of the SCN1A gene. Four were cryptogenic epilepsies and thirteen were asymptomatic: 2 were inborn errors of metabolism (biotinidase deficiency with a response to biotin and Leigh's syndrome); 2 were of infectious origin and the remaining nine prenatal encephalopathy. Nine (50%) currently have a severe psychomotor delay and 2 died. The cryptogenic cases had a relatively poor progress.Our experience corroborates the poor prognosis associated with early onset, between 1 and 3 months, of epileptic seizures. Given the wide aetiological range and the poor prognosis in the absence of specific treatment, an appropriate diagnostic-therapeutic strategy is required to avoid diagnostic uncertainties and can identify potentially treatable cases, such as some inborn errors of metabolism. In this age group, the protocol for convulsions of unknown cause must be the same as that for neonatal convulsions, including treatment with a vitamin cocktail, after collecting biological samples.

Infection by cytomegalovirus (CMV) is the most frequent congenital viral infection. Although it offers a wide range of manifestations, it nevertheless continues to be underdiagnosed if there are no symptoms in the newborn infant, which is what most commonly happens. A definitive retrospective diagnosis can only be reached after the first three weeks by detecting CMV DNA in blood on the filter paper used in the neonatal screening test.The article reviews our experience with congenital CMV from a diagnostic perspective and with the study of CMV DNA in the heel prick test.Of the 10,855 patients included in the neuropaediatric service database, there were 11 cases of congenital CMV. The diagnosis was only probable in four cases and it was definitive in seven of them, the diagnosis being obtained in the neonatal period in four of these patients and retrospectively in three others, by means of the heel prick test. The heel prick test was performed in 10 cases altogether, and was positive in five of them.There can be no doubt that many cases of congenital CMV infection are still not diagnosed. Retrospective study of congenital infection by CMV by detecting DNA in blood from the filter paper used in the neonatal screening test should be considered in the presence of severe symptoms and different clinical pictures such as: delayed intrauterine growth, microcephaly, neurosensory hypoacusis, chorioretinitis, mental retardation, behavioural disorders (especially autistic spectrum disorders), intracranial calcifications, encephaloclastic disorders, leukoencephalopathy, cortical dysplasia and malformations of the temporal lobe or the hippocampus. Given its availability, ready access and low cost, the benefits to be gain from continuing to use the heel prick test should be reconsidered.

We present the case of a 13 year-old patient diagnosed with fibromuscular dysplasia (FMD) by angiographic study, with "string of beads" image of internal carotid, after undergoing two ischemic strokes in nine days. Conservative treatment with acetylsalicylic acid at antiaggregant doses was decided. Twenty months later the clinical progress is favorable without presenting any new episodes. FMD is a very uncommon cause of stroke in childhood. Little is known about its etiology. In spite of it usually being an asymptomatic disease, it must be considered in cases of repeated or inexplicable strokes. Its prognosis and treatment is controversial, due to the limited number of pediatric patients with this pathology.

In neuropaediatrics, the aetiological diagnosis rarely allows a causal treatment to be established. In many cases, all we can offer is referral to early intervention (EI) and botulinum toxin type A (BTA). The only requirement before starting both interventions is a functional or syndromic diagnosis.Here we analyse the experience gained from an EI programme carried out in the region of Aragon since February 2003 and with the BTA service in the Neuropaediatric Unit of the Hospital Universitario Miguel Servet since November 2003.By the end of 2007, 2629 requests had been made for admission to the EI programme and in the year 2007 a total of 702 children were treated. In four years and four months 122 children with infantile cerebral palsy (ICP) were infiltrated with BTA, with positive results in 70% of cases and mild, transient side effects in 13.1%.The children, parents and professionals involved all view EI and BTA with satisfaction. Neuropaediatrics is one of the medical specialties that are best suited to child development and early intervention centres (CDIAT). The neuropaediatrician participates in all the stages of the EI: detection, diagnosis, information and intervention. He or she may act as the coordinating and homogenising element in EI, that is to say, as a link between CDIAT and health care services. Neuropaediatricians are also essential in EI training and education, in family training, information and awareness campaigns, primary care, social services and nurseries. Treatment with BTA cannot be viewed as an isolated technique, but instead as part of a programme in which physiotherapy, orthosis and sometimes surgery play a fundamental role. Coordination among the different professionals involved in treating the child with ICP is absolutely crucial.

The quality of the health care in a major part of neuropaediatrics benefits from appropriate communication and strategies that have been agreed with primary care (PC) paediatricians.We analyse the children who were assessed in the Neuropaediatric service at the Hospital Universitario Miguel Servet in Saragossa over a period of eight years and we also discuss the most important courses of action followed in the most prevalent problems.Eight reasons for visiting accounted for 86% of the total number: paroxysmal disorders (33%), headache (27%), psychomotor retardation (11.5%), alterations affecting the shape or size of the head (5.6%), problems at school and/or attention deficit (4.5%), behavioural disorders (4.25%), gait disorders (3.5%) and perinatal distress (3.4%). The most frequent diagnoses are headaches/migraines (26%), non-epileptic paroxysmal disorders (16.5%), prenatal encephalopathy (10.5%), epilepsy (8%), mental retardation (7.5%), infantile cerebral palsy (4.6%), cryptogenic attention deficit hyperactivity disorder (ADHD) (3.8%) and cryptogenic autism (3.6%).The PC paediatrician working in close relation with the children and their families in all cases is the person mainly responsible for conducting a follow-up on some of the most prevalent problems, such as headaches, many non-epileptic paroxysmal disorders and ADHD. The processes must be established, clearly specified, based on the best evidence, with the participation and within reach of all the professionals involved, in order to favour homogeneity and keep variability in the interventions to a minimum. Channels of communication, including the information and communications technologies, need to be set up to allow health professionals to be permanently up-to-date and capable of controlling their patients in the best possible way.

The aetiology and clinical features of peroxisomal diseases vary widely. An altered very-long-chain fatty acid (VLCFA) profile is commonly found in many of these diseases, and this makes it easier to point the diagnosis in the right direction.We review our experience in the diagnosis of cases of peroxisomal diseases with an altered VLCFA pattern; these were determined in serum only when there was a strong clinical suspicion up to the end of 1998, when their quantification by chromatography was introduced into our laboratory.The neuropaediatric database included 10,239 cases between May 1990 and 1st October 2007. Ten cases of peroxisomal disease with an altered VLCFA pattern were identified, all of them males. There were two cases of Zellweger syndrome spectrum, one unclassified peroxisomal oxidation defect and seven X-linked adrenoleukodystrophies (four with neurological compromise and three with no neurological damage; two were identified in siblings of patients and the other due to the presence of Addison's syndrome).In our 10 cases, the diagnosis was guided by the clinical or familial features that led to the determination of VLCFA. Being able to determine VLCFA makes early systematic diagnosis of patients possible. At present, VLCFA determination is performed when there is a clinical suspicion of Zellweger spectrum, suspected X-linked adrenoleukodystrophy/adrenomyeloneuropathy of unclear causation, Addison's disease, both in males and females, and above all in cases of chronic encephalopathy of unknown causation, with or without prenatal onset.

Introduccion. La esclerosis mesial temporal (EMT) se define como una perdida neuronal y gliosis en el hipocampo y estructuras adyacentes. Se presenta nuestra experiencia de 19 anos. Pacientes y metodos. Estudio descriptivo retrospectivo de los pacientes diagnosticados de EMT, desde mayo de 1990 a enero de 2009. Resultados. Se establecio el diagnostico de EMT en 16 casos (un 62,5%, varones). Su localizacion se distribuye en: 12 unilaterales (siete temporales izquierdas y cinco derechas) y cuatro bilaterales. Se asocio a displasia cortical en seis pacientes (37,5%) y en otros dos casos a quistes aracnoideos hipocampales. Como posible etiologia, en un caso se sospecho encefalitis herpetica, en tres casos patologia vascular cerebral prenatal, y en otros tres infeccion prenatal por citomegalovirus. La distribucion del espectro clinico fue: cinco pacientes con epilepsia clinica aislada; uno con retraso psicomotor o retraso mental (RPM-RM) aislado; uno con trastorno del espectro autista (TEA) aislado; tres con epilepsia asociada a RPM-RM; uno con epilepsia asociada a TEA; dos con RPM-RM y TEA; y dos con la triada epilepsia junto con RPM-RM y TEA. En un caso, la EMT se descubrio en el estudio de migranas, sin otros sintomas. Las crisis se controlaron con monoterapia en todos los pacientes que recibieron tratamiento antiepileptico excepto en tres, uno de los cuales preciso cirugia. Conclusion. El diagnostico definitivo de EMT es anatomopatologico, pero las nuevas tecnicas de neuroimagen han permitido una aproximacion diagnostica muy fiable. Puede asociarse a otros trastornos malformativos, como displasia cortical focal o quistes. La EMT puede observarse en epilepsia (refractaria o no), pero tambien en TEA, RPM-RM o pacientes asintomaticos.

Introduccion. La infeccion por citomegalovirus (CMV) es la infeccion virica congenita mas frecuente, con un amplio espectro de manifestaciones que, sin embargo, continua siendo infradiagnosticada si no hay sintomas en el recien nacido, situacion que es la mas frecuente. El diagnostico retrospectivo de certeza solo puede realizarse pasadas las primeras tres semanas mediante la deteccion de ADN del CMV a partir de sangre del papel de filtro del cribado neonatal. Pacientes y metodos. Se revisa nuestra experiencia desde una perspectiva diagnostica con el CMV congenito y en el estudio del ADN del CMV en la prueba del talon. Resultados. De 10.855 pacientes de la base de datos de neuropediatria, constan 11 casos de CMV congenito. En cuatro casos el diagnostico solo ha sido probable, y en siete el diagnostico es de certeza, obtenido en cuatro pacientes en el periodo neonatal y en tres casos de forma retrospectiva, mediante la prueba del talon. Se realizo la prueba del talon en un total de 10 casos, y fue positiva en cinco. Conclusiones. Resulta indudable que todavia permanecen sin diagnosticar numerosos casos de infeccion por CMV congenita. El estudio retrospectivo de infeccion congenita por CMV mediante la deteccion de ADN en sangre del papel de filtro del cribado neonatal deberia plantearse ante la presencia de gravedad y asociaciones variables de retraso del crecimiento intrauterino, microcefalia, hipoacusia neurosensorial, coriorretinitis, retraso mental, problemas de conducta (en especial trastornos del espectro autista), calcificaciones intracraneales, alteraciones encefaloclasticas, leucoencefalopatia, displasia cortical y malformaciones del lobulo temporal o del hipocampo. Dada la disponibilidad, facil accesibilidad y bajo coste debe reconsiderarse la conservacion de la prueba del talon.

Introduccion. Las enfermedades peroxisomales tienen una gran heterogeneidad etiologica y clinica. Un perfil alterado de acidos grasos de cadena muy larga (AGCML) es comun a muchas de ellas, lo que facilita su orientacion diagnostica. Pacientes y metodos. Se revisa nuestra experiencia diagnostica en los casos de enfermedad peroxisomal con patron alterado de AGCML, que se determinaban en suero solo ante fuerte sospecha clinica hasta finales de 1998, fecha en que se introdujo en nuestro laboratorio su cuantificacion por cromatografia. Resultados. En la base de datos de neuropediatria de mayo de 1990 a 1 de octubre de 2007 figuran 10.239 casos. Se han identificado 10 casos de enfermedad peroxisomal con patron alterado de AGCML, todos varones: dos casos de espectro de sindrome de Zellweger, un defecto de la beta-oxidacion peroxisomal sin tipificar y siete adrenoleucodistrofias ligadas a X (cuatro con afectacion neurologica y tres sin dano neurologico; dos identificados por ser hermanos de enfermos y el otro por presentar un sindrome de Addison). Conclusiones. En nuestros 10 casos, el diagnostico se oriento por el cuadro clinico o familiar que llevo a la determinacion de AGCML. La disponibilidad de la determinacion de AGCML permite el diagnostico sistematico de pacientes de forma precoz. Actualmente, la realizamos ante sospecha clinica del espectro Zellweger, sospecha de adrenoleucodistrofia/adrenomieloneuropatia ligada a X, leucoencefalopatias de causa no aclarada, enfermedad de Addison, tanto en varones como mujeres, y ante toda encefalopatia cronica de causa no aclarada de inicio prenatal o no.

Introduccion. La mucopolisacaridosis tipo II (MPS II), o sindrome de Hunter, es una enfermedad lisosomal de herencia recesiva ligada al cromosoma X, causada por el deficit de la enzima iduronato 2 sulfatasa. El tratamiento de las enfermedades lisosomales en general, y de las MPS en particular, ha cambiado en los ultimos 25 anos de forma espectacular. En la actualidad, el desarrollo del tratamiento enzimatico sustitutivo (TES) ha emergido en las enfermedades lisosomales como una nueva opcion terapeutica. Desarrollo. El desarrollo del TES ha ofrecido a estos pacientes los primeros beneficios terapeuticos. En el ano 2006, la Food and Drug Administration estadounidense aprobo el uso de la idursulfasa, y en Europa fue la European Medicines Agency quien lo aprobo en enero de 2007. En torno al tratamiento con la idursulfasa se plantea en la actualidad una reflexion: ?tratar o no tratar el sindrome de Hunter? El TES, a pesar de ser una alternativa prometedora, tiene hoy por hoy algunas limitaciones que hacen imprescindible este planteamiento. A lo largo de esta revision se analizan tanto los efectos beneficiosos como las limitaciones actuales con el TES. Conclusion. Para responder adecuadamente a esta cuestion, es necesaria la consecucion de los siguientes objetivos teoricos: valorar la eficacia terapeutica y la relevancia clinica del TES en la MPS II, desarrollar los biomarcadores adecuados para la monitorizacion del tratamiento y marcar unos objetivos terapeuticos adecuados que nos ayuden a establecer las indicaciones del TES.

Introduccion. La calidad asistencial de gran parte de la neuropediatria se beneficia de una adecuada comunicacion y de estrategias consensuadas con los pediatras de atencion primaria (AP). Pacientes y metodos. Se analizan los ninos valorados en la consulta de neuropediatria del Hospital Universitario Miguel Servet de Zaragoza en ocho anos y se exponen las lineas mas importantes de actuacion en los problemas mas prevalentes. Resultados. El 86% de las primeras visitas se reparte entre ocho motivos de consulta: trastornos paroxisticos (33%), cefalea (27%), retraso psicomotor (11,5%), alteraciones de la forma o tamano de la cabeza (5,6%), problemas escolares y/o atencion deficiente (4,5%), alteraciones del comportamiento (4,25%), trastornos de la marcha (3,5%) y sufrimiento perinatal (3,4%). Los diagnosticos mas frecuentes son cefaleas/migranas (26%), trastornos paroxisticos no epilepticos (16,5%), encefalopatia prenatal (10,5%), epilepsia (8%), retardo mental (7,5%), paralisis cerebral infantil (4,6%), trastorno por deficit de atencion con hiperactividad (TDAH) criptogenico (3,8%) y autismo criptogenico (3,6%). Conclusiones. El pediatra de AP cercano a los ninos y sus familias en todos los casos es el principal responsable del seguimiento de algunos de los problemas mas prevalentes, como cefaleas, muchos trastornos paroxisticos no epilepticos y TDAH. Los procesos deben estar establecidos, claramente explicitados, basados en las mejores evidencias, con la participacion y al alcance de todos los profesionales involucrados, en beneficio de la homogeneidad y reducida variabilidad de las actuaciones. Es necesario establecer vias de comunicacion, incluidas las tecnologias de la informacion y comunicacion para una continua actualizacion y el mejor control de los pacientes.

Introduccion. En neuropediatria, el diagnostico etiologico pocas veces permite un tratamiento causal. En muchas ocasiones solo podemos ofrecer la derivacion a atencion temprana (AT) y la toxina botulinica tipo A (TBA). Ambas intervenciones solo precisan para su inicio el diagnostico funcional o sindromico. Pacientes y metodos. Se analiza la experiencia en el programa de AT para Aragon desde febrero de 2003 y con la consulta de TBA de la Unidad de Neuropediatria del Hospital Universitario Miguel Servet desde noviembre de 2003. Resultados. El numero de solicitudes al programa de AT hasta finales de 2007 ascendia a 2.629, y en 2007 se atendia a 702 ninos. En cuatro anos y cuatro meses se ha infiltrado con TBA a 122 ninos con paralisis cerebral infantil, con resultados positivos del 70%, y efectos adversos leves y transitorios del 13,1%. Conclusiones. La AT y la TBA se perciben con alta satisfaccion por ninos, padres y profesionales implicados. La neuropediatria es una de las especialidades medicas mas adecuadas en los equipos de atencion temprana (CDIAT). El neuropediatra participa en todas las etapas de AT: deteccion, diagnostico, informacion e intervencion. Puede ser el elemento coordinador y homogeneizador de la AT, el enlace entre CDIAT y servicios sanitarios. Es necesario en programas de formacion y docencia de AT, en campanas de sensibilizacion, informacion y formacion de familias, atencion primaria, servicios sociales y guarderias. El tratamiento con TBA no puede entenderse como una tecnica aislada, sino dentro de un programa donde son fundamentales fisioterapia, ortesis y, en ocasiones, cirugia. Es imprescindible la coordinacion con los profesionales implicados en el tratamiento del nino con paralisis cerebral infantil.