Nuestra experiencia en el diagnóstico etiológico del retraso global del desarrollo y discapacidad intelectual: 2006-2010 / Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010

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

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

[Gorlin syndrome in the paediatric age]. / Síndrome de Gorlin en la edad pediátrica.

INTRODUCTION: Gorlin syndrome (GS) is a disorder transmitted by dominant autosomal inheritance associated to mutations in PTCH1, the main characteristic of which is the appearance of basal cell carcinomas, together with skeletal abnormalities, odontogenic keratocysts and intracranial tumours. CASE REPORT: A girl aged 3 years and 10 months, who was admitted due to acute ataxia. Some of the more striking features in the patient's personal history include psychomotor retardation and a family history of suspected GS in the mother as a result of a maxillary cyst. An examination revealed macrocephaly with a prominent forehead and hypertelorism, as well as nevus. A genetic study for GS was requested, in which mutation c.930delC was detected in exon 6 of the PTCH1 gene in heterozygosis. CONCLUSIONS: In GS there is an increase in the likelihood of developing basal cell carcinomas and strict dermatological monitoring is necessary. A clinical neurological follow-up and also magnetic resonance imaging scans are needed for an early diagnosis of intracranial tumours, especially in the case of medulloblastomas. Odontogenic keratocysts, other skin disorders, and cardiac and ovarian fibromas are characteristic, as are skeletal abnormalities, which require regular clinical and neuroimaging controls and treatment if needed, but radiation must be avoided. GS is a rare disorder, but it must be suspected in the presence of characteristic alterations. It requires a multidisciplinary follow-up, and it is also necessary to establish a protocol on how to act so as to allow early diagnosis and treatment of the potentially severe complications deriving from this disease.

TITLE: Sindrome de Gorlin en la edad pediatrica.Introduccion. El sindrome de Gorlin (SG) es un trastorno de herencia autosomica dominante asociado a mutaciones en el gen PTCH1, cuya principal caracteristica es la aparicion de carcinomas basocelulares, unido a anomalias esqueleticas, queratoquistes odontogenicos y tumores intracraneales. Caso clinico. Niña de 3 años y 10 meses, ingresada por ataxia aguda. Destacan como antecedentes personales retraso psicomotor y como antecedentes familiares la sospecha de SG en la madre por quiste maxilar. En la exploracion, se aprecia macrocefalia con frente prominente e hipertelorismo, asi como nevo. Se solicita estudio genetico de SG, en el que se detecta la mutacion c.930delC en el exon 6 del gen PTCH1 en heterocigosis. Conclusiones. En el SG hay un aumento de la susceptibilidad al desarrollo de carcinomas basocelulares y es preciso un estrecho control dermatologico. Es necesario un seguimiento neurologico clinico y de imagen, mediante resonancia magnetica, para el diagnostico precoz de tumores intracraneales, fundamentalmente el meduloblastoma. Tambien son caracteristicos los queratoquistes odontogenicos, otras alteraciones cutaneas, fibromas cardiacos y ovaricos, asi como anomalias esqueleticas, que precisan controles clinicos y de imagen periodicos, y tratamiento en caso de ser necesarios, pero debe evitarse la radiacion. El SG es un trastorno poco frecuente, que se debe sospechar ante la presencia de alteraciones caracteristicas. Es necesario un seguimiento multidisciplinar, asi como establecer un protocolo de actuacion, para un temprano diagnostico y tratamiento de las complicaciones potencialmente graves derivadas de esta enfermedad.

Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.

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.

Síndromes polimalformativos con expresión en el sistema nervioso central / Polymalformative syndromes with expression in the central nervous system

Objetivos: Determinar las características de los síndromes polimalformativos con expresión en el sistema nervioso central (SNC) detectados en el periodo neonatal, e investigar los factores de riesgo maternos asociados. Material y métodos: Estudio retrospectivo, durante el periodo comprendido entre enero de 1976 y diciembre de 2005, realizado en el Servicio de Pediatría del Hospital Universitario de Guadalajara. Se incluyeron en el estudio todos los recién nacidos en nuestro hospital con síndromes polimalformativos con expresión en el SNC. Resultados: Durante el periodo de estudio, se recogieron siete casos de niños con malformaciones congénitas del SNC y síndrome polimalformativo. Las anomalías más frecuentes fueron la hidrocefalia congénita y los defectos del tubo neural. Los factores de riesgo encontrados fueron las infecciones durante la gestación, la radiación ionizante, la toma de algunos fármacos y la consanguinidad. Conclusiones: Los síndromes polimalformativos con expresión en el SNC tienen una etiología multifactorial, que comprende tanto factores ambientales como genéticos (AU)

Objectives: To determine the clinical aspects of polymalformatives syndromes with expression in the central nervous system detected in the neonatal period, and to investigate the associated maternal risk factors. Material and methods: Retrospective study, during the period of January 1976 to December 2005, carried out in the Pediatrics Department of the University Hospital of Guadalajara, Spain. All the newborns in our hospital with polymalformatives syndromes with expression in the central nervous system were included in the study. Results: During the study period 7 children were recorded with congenital defects of the central nervous system and a polymalformative syndrome. The most frequent anomalies were congenital hydrocephalus and neural tube defects. The risk factors found in the study were maternal infections during pregnancy, ionizing radiation, medications and consanguinity. Conclusions: The polymalformatives syndromes with expression in the central nervous system seem to have a multifactorial etiology, comprising both environmental and genetic components (AU)

Evaluación del protocolo de punción lumbar diagnóstica en urgencias / Evaluation of the protocol for diagnostic lumbar puncture in the emergency department

No disponible

Accidente cerebrovascular pediátrico secundario a displasia fibromuscular / Pediatric cerebrovascular accident secondary to fibromuscular dysplasia

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 (AU)

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 (AU)

Querion de Celso: a propósito de un caso / Staphylococcal scalded skin syndrome in a newborn

La tiña capitis producida por dermatofitos de los géneros Microporum y Trichopyton es una de la micosis superficiales más frecuentes en la etapa escolar y preescolar. En algunos casos las lesiones se transforman en una placa entematosa indurada con pústulas y exudado, con tendencia a presentar nódulos, denominándose Querion (AU)

Tinea capitis produced by dermatophytes of the Microsporum and Trichophyton genders is one of the most frequent superficial mycoses among toddlers and elementary school children. In a few cases the lesions change to become indurated erythematous plaque with pustules and exudates, tender nodules, named Keiron (AU)

[Epilepsy with onset between the ages of 3 and 12 months. Our experience gained over a 10-year period]. / Epilepsia de inicio entre los 3 y 12 meses de edad. Nuestra experiencia de 10 años.

INTRODUCTION: The prognosis of epilepsy is essentially determined by its aetiology and a poorer prognosis is generally associated with an early onset of the seizures. PATIENTS AND METHODS: In this study we review our experience in epilepsies in children born after 1st January 1997 and who had their first acute non-symptomatic seizure before 31st March 2007 and between the ages of 3 and 12 months. Special attention is given to the analysis of cases of remote non-symptomatic epilepsies. RESULTS: Of the children born in that period, 267 were diagnosed with epilepsy, and the first seizure occurred between 3 and 12 months of age in 69 cases: 39 of which were symptomatic and 30 were cryptogenic and idiopathic epilepsies. West's syndrome/childhood spasms were observed in 20 cases (17 of the symptomatic cases and three of the cryptogenic and idiopathic patients). The cryptogenic and idiopathic cases were divided into three groups depending on their electroencephalogram pattern: nine generalised, 18 with no generalised alterations and three hypsarrhythmias. In addition, the three groups were analysed taking into account three degrees of psychomotor development: normal, slight retardation and moderate/severe retardation. None of the non-generalised cases presented severe psychomotor retardation, whereas 78% of the generalised and 33% of those with West's syndrome developed an important degree of retardation in their course. CONCLUSIONS: Our experience is compatible with the existence of epilepsies that have their onset in the early months of life and a good prognosis, which is important when it comes to the information and therapeutic approaches in cases of remote non-symptomatic epilepsy.

Epilepsia de inicio entre los 3 y 12 meses de edad. Nuestra experiencia de 10 años / Epilepsy with onset between the ages of 3 and 12 months. Our experience gained over a 10-year period

Introducción. El pronóstico de la epilepsia viene determinado fundamentalmente por su etiología y, en general, se asocia un peor pronóstico al comienzo precoz de las crisis. Pacientes y métodos. En este trabajo se revisa nuestra experiencia en epilepsias en niños nacidos tras el 1 de enero de 1997 y que presentaron la primera crisis no sintomática aguda antes del31 de marzo de 2007 y entre los 3 y los 12 meses de edad. Se analizan especialmente los casos de epilepsias no sintomáticas remotas. Resultados. De los niños nacidos en ese período, 267 tienen el diagnóstico de epilepsia y la primera crisis entre 3 y 12 meses se dio en 69 casos: 39 epilepsias sintomáticas y 30 criptogénicas e idiopáticas. Veinte manifestaron un síndrome deb West/espasmos infantiles (17 de las sintomáticas y tres de las criptogénicas e idiopáticas). Se clasifican las criptogénicas e idiopáticas en tres grupos según su patrón electroencefalográfico: 9 generalizadas, 18 sin alteraciones generalizadas y 3 hipsarritmias. Asimismo, se han analizado los tres grupos considerando tres opciones de desarrollo psicomotor: normal, retraso leve y retraso moderado/grave. Ningún caso de las no generalizadas presentó retraso psicomotor grave, mientras que el 78%de las generalizadas y el 33% de los síndromes de West desarrollaron un retraso importante en su evolución. Conclusiones. Nuestra experiencia es compatible con la existencia de epilepsias de presentación en los primeros meses de vida y buen pronóstico, lo cual es importante en la información y planteamientos terapéuticos de los casos de epilepsia no sintomática remota

Introduction. The prognosis of epilepsy is essentially determined by its aetiology and a poorer prognosis isgenerally associated with an early onset of the seizures. Patients and methods. In this study we review our experience in epilepsies in children born after 1st January 1997 and who had their first acute non-symptomatic seizure before 31st March 2007 and between the ages of 3 and 12 months. Special attention is given to the analysis of cases of remote non-symptomaticepilepsies. Results. Of the children born in that period, 267 were diagnosed with epilepsy, and the first seizure occurred between 3 and 12 months of age in 69 cases: 39 of which were symptomatic and 30 were cryptogenic and idiopathic epilepsies. West’s syndrome/childhood spasms were observed in 20 cases (17 of the symptomatic cases and three of the cryptogenic andidiopathic patients). The cryptogenic and idiopathic cases were divided into three groups depending on their electroencephalogram pattern: nine generalised, 18 with no generalised alterations and three hypsarrhythmias. In addition, the three groups were analysed taking into account three degrees of psychomotor development: normal, slight retardation and moderate/severe retardation. None of the non-generalised cases presented severe psychomotor retardation, whereas 78% ofthe generalised and 33% of those with West’s syndrome developed an important degree of retardation in their course. Conclusions. Our experience is compatible with the existence of epilepsies that have their onset in the early months of life and a good prognosis, which is important when it comes to the information and therapeutic approaches in cases of remote nonsymptomaticepilepsy

Autoevaluación del cumplimiento del protocolo del traumatismo craneoencefálico en urgencias en mayores de un año / No disponible

No disponible

[Early care and botulinum toxin. Our experience in the 21st century]. / Atención temprana y toxina botulínica.Nuestra experiencia en el siglo XXI.

INTRODUCTION: 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. PATIENTS AND METHODS: 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. RESULTS: 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%. CONCLUSIONS: 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.

[Neuropaediatrics and primary care. Our experience in the 21st century]. / Neuropediatría y atención primaria.Nuestra experiencia en el siglo XXI.

INTRODUCTION: 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. PATIENTS AND METHODS: 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. RESULTS: 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%). CONCLUSIONS: 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.

Atención temprana y toxina botulínica. Nuestra experiencia en el siglo XXI / Early care and botulinum toxin our experience in the 21ST century

Introducción. En neuropediatría, el diagnóstico etiológico pocas veces permite un tratamiento causal. En muchas ocasiones sólo podemos ofrecer la derivación a atención temprana (AT) y la toxina botulínica tipo A (TBA). Ambas intervenciones sólo precisan para su inicio el diagnóstico funcional o sindrómico. Pacientes y métodos. Se analiza la experiencia enel programa de AT para Aragón desde febrero de 2003 y con la consulta de TBA de la Unidad de Neuropediatría del Hospital Universitario Miguel Servet desde noviembre de 2003. Resultados. El número de solicitudes al programa de AT hasta finales de 2007 ascendía a 2.629, y en 2007 se atendía a 702 niños. En cuatro años y cuatro meses se ha infiltrado con TBA a 122 niñoscon parálisis 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 satisfacción por niños, padres y profesionales implicados. La neuropediatría es una de las especialidades médicas más adecuadas en los equipos de atención temprana (CDIAT). El neuropediatra participaen todas las etapas de AT: detección, diagnóstico, información e intervención. Puede ser el elemento coordinador y homogeneizador de la AT, el enlace entre CDIAT y servicios sanitarios. Es necesario en programas de formación y docencia de AT, en campañas de sensibilización, información y formación de familias, atención primaria, servicios sociales y guarderías.El tratamiento con TBA no puede entenderse como una técnica aislada, sino dentro de un programa donde son fundamentales fisioterapia, ortesis y, en ocasiones, cirugía. Es imprescindible la coordinación con los profesionales implicados en el tratamientodel niño con parálisis cerebral infantil

Introduction. 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. Patients and methods. Here we analyse the experience gained from an EI programme carried out in the region of Aragon since February 2003 and with the BTA servicein the Neuropaediatric Unit of the Hospital Universitario Miguel Servet since November 2003. Results. 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. Infour 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%. Conclusions. 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 andearly intervention centres (CDIAT). The neuropaedia-trician 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 familytraining, 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 absolutelycrucial

Neuropediatría y atención primaria. Nuestra experiencia en el siglo XXI / Neuropaediatrix and primary care our experience in the 21ST century

Introducción. La calidad asistencial de gran parte de la neuropediatría se beneficia de una adecuada comunicacióny de estrategias consensuadas con los pediatras de atención primaria (AP). Pacientes y métodos. Se analizan los niños valorados en la consulta de neuropediatría del Hospital Universitario Miguel Servet de Zaragoza en ocho años y se exponen las líneas más importantes de actuación en los problemas más prevalentes. Resultados. El 86% de las primeras visitas se reparteentre ocho motivos de consulta: trastornos paroxísticos (33%), cefalea (27%), retraso psicomotor (11,5%), alteraciones de la forma o tamaño de la cabeza (5,6%), problemas escolares y/o atención deficiente (4,5%), alteraciones del comportamiento (4,25%), trastornos de la marcha (3,5%) y sufrimiento perinatal (3,4%). Los diagnósticos más frecuentes son cefaleas/migrañas(26%), trastornos paroxísticos no epilépticos (16,5%), encefalopatía prenatal (10,5%), epilepsia (8%), retardo mental (7,5%), parálisis cerebral infantil (4,6%), trastorno por déficit de atención con hiperactividad (TDAH) criptogénico (3,8%) y autismo criptogénico (3,6%). Conclusiones. El pediatra de AP cercano a los niños y sus familias en todos los casos es el principalresponsable del seguimiento de algunos de los problemas más prevalentes, como cefaleas, muchos trastornos paroxísticos no epilépticos y TDAH. Los procesos deben estar establecidos, claramente explicitados, basados en las mejores evidencias, con la participación y al alcance de todos los profesionales involucrados, en beneficio de la homogeneidad y reducida variabilidadde las actuaciones. Es necesario establecer vías de comunicación, incluidas las tecnologías de la información y comunicación para una continua actualización y el mejor control de los pacientes

Introduction. The quality of the health care in a major part of neuropaediatrics benefits from appropriatecommunication and strategies that have been agreed with primary care (PC) paediatricians. Patients and methods.We analyse the children who were assessed in the Neuropaediatric service at the Hospital Universitario Miguel Servet in Saragossa over aperiod of eight years and we also discuss the most important courses of action followed in the most prevalent problems. Results. 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 areheadaches/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%). Conclusions. The PC paediatrician working in close relation with the children and theirfamilies 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 favourhomogeneity 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

[Our experience in the diagnosis of peroxisomal diseases with an abnormal fatty acid profile]. / Nuestra experiencia diagnóstica en enfermedades peroxisomales con alteración del perfil de ácidos grasos

INTRODUCTION: 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. PATIENTS AND METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.

Nuestra experiencia diagnóstica en enfermedades peroxisomales con alteración del perfil de ácidos grasos / Our experience in the diagnosis of peroxisomal diseases with an abnormal fatty acid profile

Introducción. Las enfermedades peroxisomales tienen una gran heterogeneidad etiológica y clínica. Un perfil alterado de ácidos grasos de cadena muy larga (AGCML) es común a muchas de ellas, lo que facilita su orientación diagnóstica.Pacientes y métodos. Se revisa nuestra experiencia diagnóstica en los casos de enfermedad peroxisomal con patrón alterado de AGCML, que se determinaban en suero sólo ante fuerte sospecha clínica hasta finales de 1998, fecha en que se introdujo en nuestro laboratorio su cuantificación por cromatografía. Resultados. En la base de datos de neuropediatría de mayo de 1990 a 1 de octubre de 2007 figuran 10.239 casos. Se han identificado 10 casos de enfermedad peroxisomal con patrón alterado de AGCML, todos varones: dos casos de espectro de síndrome de Zellweger, un defecto de la beta-oxidación peroxisomal sin tipificar y siete adrenoleucodistrofias ligadas a X (cuatro con afectación neurológica y tres sin daño neurológico; dosidentificados por ser hermanos de enfermos y el otro por presentar un síndrome de Addison). Conclusiones. En nuestros 10 casos, el diagnóstico se orientó por el cuadro clínico o familiar que llevó a la determinación de AGCML. La disponibilidad de la determinación de AGCML permite el diagnóstico siste-mático de pacientes de forma precoz. Actualmente, la realizamos ante sospecha clínica del espectro Zellweger, sospecha de adrenoleucodistrofia/adrenomieloneuropatía ligada a X, leucoencefalopatías de causa no aclarada, enfermedad de Addison, tanto en varones como mujeres, y ante toda encefalopatía crónica de causa no aclarada de inicio prenatal o no

Introduction. 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. Patients and methods. We review our experience in the diagnosis of cases of peroxisomal diseases with analtered 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. Results. The neuropaediatric database included 10,239 cases between May 1990 and 1st October 2007. Ten cases of peroxisomal disease with an altered VLCFApattern 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).Conclusions. 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 adrenoleuko - dystrophy/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

Experiencia en el cambio brusco de carbamazepina por oxcarbazepina en niños y adolescentes / Immediate switching from carbamazepine to oxcarbazepine. Our experience in children and adolescents

Objetivo. Revisión retrospectiva de historias clínicascon cambio brusco de carbamazepina (CBZ) por oxcarbazepina(OXC) mediante la administración de al menos 1,3 vecesla dosis que tomaba de CBZ en dos dosis diarias de OXC.Método. Se hizo el cambio brusco en 22 casos pediátricos.Tomaban CBZ en monoterapia 17 casos y 5 en politerapia.La razón del cambio fue en 20 casos para disminuir lascrisis (y evitar efectos secundarios en 4 de ellos) y en 2 sólopor disminuir efectos de somnolencia y cansancio. El cambiomedio fue de 18,62 mg/kg de CBZ a 28,89 mg/kg deOXC. La relación media del cambio CBZ/OXC fue de 1,6:1(máximo: 2:1).Resultados. En 19 casos no se apreció ningún efectonegativo. Un niño empeoró el temblor esencial y 2 niñas semostraron más cansadas y somnolientas. Tres refirieron menorsomnolencia y uno menor tendencia al engorde. En12 casos no se apreció ningún cambio en las crisis. Cese inicialde las crisis en 5 casos; en 3 de ellos de manera mantenida.Disminuyó la frecuencia en 2 casos y acabaron desapareciendoen uno de ellos. En 3 casos disminuyó la intensidad de lascrisis. En dos casos se suspendió la OXC tras 24 meses sincrisis. Seguían tomando OXC 14 pacientes, 8 en monoterapia,con un tiempo medio de seguimiento de 31,5 meses.Conclusión. Dados los beneficios potenciales, facilidady buena tolerabilidad, aconsejamos antes de añadir a la CBZotro antiepiléptico probar con el cambio brusco por OXC (AU)

Objetive. We review retrospectively the clinical historiesof patients who were immediately switched fromcarbamazepine (CBZ) to oxcarbazepine (OXC), beingadministered a minimum of 1.3 times the CBZ dosis in2 daily dosis of OXC.Method. The immediate switching was carried out in22 paediatric cases. 17 patients were taking CBZ in monotherapyand 5 in politherapy. The change was made in20 cases to lower the number of seizures (and to avoid sideeffects in 4 of them), and in 2 only to reduce drowsinessand fatigue. The average change was from 18.62 mg/kg ofCBZ to 28.89 mg/kg of OXC. The medium change ratewas 1.6:1 (maximum: 2:1).Results. In 19 cases there were no side effects. Withone boy, the essential tremor worsened and two girls becamemore tired and drowsy. Three experienced lessdrowsiness and one less weight increase. Twelve casesshowed no seizure changes. Five cases became immediatelyseizure-free, three of them for a prolongated time.There was a reduction in seizure frequency in 2 cases,with posterior disappearance in one of them. Three casesexperienced a reduction in seizure intensity. In two casesOXC was stopped after 24 seizure-free months. Fourteenpatients were still taking OXC, 8 in monotherapy, with amean follow-up of 31.5 months.Conclusion. Given the potential benefits, ease andgood tolerability, we advise trying with immediate switchingto OXC, before adding another antiepileptic drugto CBZ (AU)

[Central sleep apnea syndrome as the first sign of type I Chiari malformation]. / Síndrome de apnea central del sueño como primera manifestación de malformación de Chiari tipo I.

INTRODUCTION: Type I Chiari malformation consists on the caudal displacement of cerebellar tonsils through the foramen magnum. It is often asymptomatic, although it may display symptoms as a result of cerebellum, brainstem, high cervical spinal cord or the lower cranial nerve, involvement. OBJECTIVE: We report our experience over the last 16 years. We have identified 16 patients with type I Chiari malformation. Only 2 cases showed common type I Chiari symptoms and just one had respiratory disorder as the first clinical sign. CLINICAL CASE: A 15 year old girl presented with a 5 years' history of chronic daily cough aggravated by exercise. Snoring and sleep apnea had been noted by her mother for 1 year. The girl eventually suffered from migraine and diurnal hypersomnolence. The physical and neurological examination was normal with the only exception being the absence of bilateral nauseous reflex. A nocturnal polysomnography study demonstrated a pseudoperiodic pattern with apnea pauses associated to cycles of deep breathing, resulting in severe gasometric repercussion and bradycardia. Magnetic resonance imaging of the brain showed Chiari I malformation. Non-invasive mechanical ventilation treatment significantly improved the clinical symptoms and gasometric analysis. DISCUSSION: Surgical posterior fossa decompression is discussed. Early decompression before appearance of irreversible neurological damage is recommended. It is associated with a significant reduction in the number of central apneas and sleep arousals. Surgical intervention is recommended in symptomatic patients and in cases of radiographic Chiari malformation or syrinx progression.

Síndrome de apnea central del sueño como primera manifestación de malformación de Chiari tipo I / Central sleep apnea syndrome as the first sign of type I Chiari malformation

Introducción: La malformación de Chiari tipo I consiste en el descenso de las amígdalas cerebelosas a través del foramen magno. Con frecuencia es asintomática, pero puede presentar clínica por afectación de cerebelo, troncoencéfalo, porción superior de la médula cervical y pares craneales bajos. Objetivo: Se presenta nuestra experiencia de 16 años con 16 casos de malformación de Chiari tipo I; sólo en 2 existen síntomas atribuibles a la anomalía de Chiari tipo I, y en una de ellas la primera manifestación clínica consistió en un trastorno respiratorio durante el sueño. Caso clínico: Niña de 15 años con tos crónica diaria, agravada con el ejercicio, de 5 años de duración. La madre observaba desde hacía 1 año que al dormir la niña roncaba y realizaba repetidamente pausas de apnea. Tenía cefaleas ocasionales e hipersomnolencia diurna. Las exploraciones física y neurológica fueron normales, salvo ausencia de reflejo nauseoso bilateral. El estudio polisomnográfico nocturno evidenció un patrón seudoperiódico con alternancia de pausas de apnea con ciclos de respiraciones profundas, con graves repercusiones gasométricas y sobre la frecuencia cardíaca. La resonancia magnética mostró anomalía de Chiari tipo I. La ventilación mecánica no invasiva supuso una mejoría clínica y gasométrica en la paciente. Discusión: La descompresión quirúrgica es discutida. Está indicada de forma precoz, antes de que aparezca daño neurológico irreversible. Se asocia con una reducción significativa en el número de apneas centrales y microdespertamientos. Se recomienda en casos sintomáticos o en casos con progresión radiológica de la anomalía de Chiari o de la siringomielia asociada (AU)

Introduction: Type I Chiari malformation consists on the caudal displacement of cerebellar tonsils through the foramen magnum. It is often asymptomatic, although it may display symptoms as a result of cerebellum, brainstem, high cervical spinal cord or the lower cranial nerve, involvement. Objective: We report our experience over the last 16 years. We have identified 16 patients with type I Chiari malformation. Only 2 cases showed common type I Chiari symptoms and just one had respiratory disorder as the first clinical sign. Clinical case: A 15 year old girl presented with a 5 years history of chronic daily cough aggravated by the exercise. Snoring and sleep apnea had been noted by her mother for 1 year. The girl eventually suffered from migraine and diurnal hypersomnolence. The physical and neurological examination was normal with the only exception being the absence of bilateral nauseous reflex. A nocturnal polysomnography study demonstrated a pseudoperiodic pattern with apnea pauses associated to cycles of deep breathing, resulting in severe gasometric repercussion and bradycardia. Magnetic resonance imaging of the brain showed Chiari I malformation. Non-invasive mechanical ventilation treatment significantly improved the clinical symptoms and gasometric analysis. Discussion: Surgical posterior fossa decompression is discussed. Early decompression before appearance of irreversible neurological damage is recommended. It is associated with a significant reduction in the number of central apneas and sleep arousals. Surgical intervention is recommended in symptomatic patients and in cases of radiographic Chiari malformation or syrinx progression (AU)