Epilepsia ausencia infantil. Pronóstico a largo plazo / Long-term prognosis of childhood absence epilepsy

Introducción: La epilepsia ausencia infantil (EAI) se considera una forma de epilepsia de fácil control farmacológico solo si se emplean criterios estrictos para la clasificación de los pacientes. Supone el 10% de las epilepsias infantiles de inicio antes de los 15 años y es más frecuente en niñas escolares. El objetivo es conocer la evolución a largo plazo de los pacientes atendidos en la etapa infantil con EAI empleando los criterios de Loiseau y Panayiotopoulos Métodos: Estudio retrospectivo de 69 pacientes con EAI con edad actual mayor de 11 años, realizado mediante revisión de historias clínicas, EEG y cuestionario telefónico. Resultados: Cumplieron los criterios de Loiseau y Panayiotopoulos 52 pacientes, edad actual media 17,61 años. Relación mujeres/hombres: 1,65/1; edad de inicio media: 6 años y 2 meses; duración total de tratamiento media: 3 años y 9 meses; antecedentes familiares de epilepsia: 30,8%; antecedentes personales de crisis febriles: 7,7%; tipo de ausencias: simples 73,5%, complejas: 26,5%; respuesta al primer tratamiento: ácido valproico 46,3% o ácido valproico con etosuximida simultáneos 90,9%; respuesta al segundo tratamiento (etosuximida o lamotrigina) 84,2%; crisis tras supresión de tratamiento: 4%; pacientes en remisión terminal: 78,8%; necesidad de apoyo psicopedagógico: 25%. Conclusiones: Nuestros datos muestran la utilidad de clasificar a los pacientes utilizando criterios estrictos ya que el pronóstico de las crisis del síndrome de EAI puro es excelente. Encontramos que la tasa de recaídas ha sido muy baja. A pesar del favorable pronóstico en cuanto al control de crisis necesitan apoyos psicopedagógicos en un alto porcentaje

Introduction: Childhood absence epilepsy (CAE) is considered easily manageable with medication provided that a strict patient classification system is employed. It accounts for 10% of all childhood epilepsy cases starting before the age of 15 and it is most frequent in school-aged girls. The aim of this study is to analyse long-term outcomes of patients diagnosed with CAE according to the Loiseau and Panayiotopoulos criteria and treated during childhood. Methods: We conducted a retrospective study including 69 patients with CAE who are currently older than 11; data were gathered from medical histories, EEG records, and telephone questionnaires. Results: 52 patients met the Loiseau and Panayiotopoulos criteria. Mean age is now 17.16 years. Female-to-male ratio was 1.65:1; mean age at onset was 6 years and 2 months; mean duration of treatment was 3 years and 9 months. A family history of epilepsy was present in 30.8% of the patients and 7.7% had a personal history of febrile convulsions. Absence seizures were simple in 73.5% of the patients and complex in 26.5%. Response rates to first-line treatment were as follows: valproic acid, 46.3%; and valproic acid plus ethosuximide, 90.9%. The rate of response to second-line therapy (ethosuximide or lamotrigine) was 84.2%; 4% of the patients experienced further seizures after treatment discontinuation, 78.8% achieved seizure remission, and 25% needed psychological and academic support. Conclusions: Our data show that epileptic patients should be classified according to strict diagnostic criteria since patients with true CAE have an excellent prognosis. The relapse rate was very low in our sample. Despite the favourable prognosis, psychological and academic support is usually necessary

Long-term prognosis of childhood absence epilepsy. / Epilepsia ausencia infantil. Pronóstico a largo plazo.

INTRODUCTION: Childhood absence epilepsy (CAE) is considered easily manageable with medication provided that a strict patient classification system is employed. It accounts for 10% of all childhood epilepsy cases starting before the age of 15 and it is most frequent in school-aged girls. The aim of this study is to analyse long-term outcomes of patients diagnosed with CAE according to the Loiseau and Panayiotopoulos criteria and treated during childhood. METHODS: We conducted a retrospective study including 69 patients with CAE who are currently older than 11; data were gathered from medical histories, EEG records, and telephone questionnaires. RESULTS: 52 patients met the Loiseau and Panayiotopoulos criteria. Mean age is now 17.16 years. Female-to-male ratio was 1.65:1; mean age at onset was 6 years and 2 months; mean duration of treatment was 3 years and 9 months. A family history of epilepsy was present in 30.8% of the patients and 7.7% had a personal history of febrile convulsions. Absence seizures were simple in 73.5% of the patients and complex in 26.5%. Response rates to first-line treatment were as follows: valproic acid, 46.3%; and valproic acid plus ethosuximide, 90.9%. The rate of response to second-line therapy (ethosuximide or lamotrigine) was 84.2%; 4% of the patients experienced further seizures after treatment discontinuation, 78.8% achieved seizure remission, and 25% needed psychological and academic support. CONCLUSIONS: Our data show that epileptic patients should be classified according to strict diagnostic criteria since patients with true CAE have an excellent prognosis. The relapse rate was very low in our sample. Despite the favourable prognosis, psychological and academic support is usually necessary.

[Transition from child to adult epilepsy. Difficulties with an objective that cannot be delayed]. / Transicion de la epilepsia del niño al adulto. Dificultades en un objetivo no demorable.

Paediatric care of a chronic process is limited by the moment when the clinical and therapeutic follow-up must be continued by a specialist from the area for adults. The delay in the transition from paediatrics to adult medicine can be due to causes attributable to the patient or his/her relatives, or the professional who diagnosed the disease. The former arises from the uncertainty of facing the unknown, which becomes more intense when the diagnosis and treatment have been difficult, as there is a fear of upsetting the stability of the patient. The latter concerns the paediatric specialist, who created ties of dependence with the patient due to the difficulties involved in the process, and perhaps even owing to a wish to avoid playing a less important role in it. Delaying the transition gives rise to problems that are detrimental for the child, because after adolescence there will still be a harmful dependence on the family and the paediatrician, which will delay the necessary knowledge of their own illness and of the limitations that can condition them. As a result this can prevent them from developing mechanisms for coming to terms with the reality of their own life situation. Later on, when it comes to taking the necessary step into adult medicine, immaturity appears, which increases the difficulties due to a lack of knowledge of both the disease and the tell-tale signs of alarm, revealing insecurity in the different situations that arise. The problem can be solved by a slow progressive change which must be coordinated in mixed outpatient departments with the presence of specialists for both paediatric and adult patients. This publication offers an analysis of this problem and a review of the solutions recommended to implement them in the best possible way.

TITLE: Transicion de la epilepsia del niño al adulto. Dificultades en un objetivo no demorable.La atencion pediatrica de un proceso cronico se ve limitada por el momento a partir del cual el seguimiento clinico y terapeutico debe continuarlo el especialista del area con dedicacion al adulto. El retraso de la transicion de la pediatria a la medicina del adulto puede originarse por causas familiares o del paciente, o bien por el profesional que diagnostico la enfermedad. La primera emana de la incertidumbre ante lo desconocido, mas intensa cuanto mayor ha sido la dificultad diagnostica y terapeutica, al temer que el paciente se desestabilice. La segunda atañe al especialista pediatrico, que creo lazos de dependencia con el paciente por las dificultades del proceso, e incluso por el deseo de no perder protagonismo en el mismo. Demorar la transicion genera problemas perjudiciales para el niño, pues superada la adolescencia mantendra una nociva dependencia familiar y del pediatra, retrasando el necesario conocimiento de la propia enfermedad y de las limitaciones que pueden condicionarle, e impidiendole desarrollar mecanismos para enfrentarse a su realidad vital. Mas adelante, cuando llega el necesario paso a la medicina del adulto, aflora la inmadurez, que incrementa las dificultades por desconocer tanto la enfermedad como los signos de alarma, revelando inseguridad en las situaciones que vayan apareciendo. El problema se soluciona con un cambio lento y progresivo, que debe coordinarse en consultas mixtas atendidas por especialistas pediatricos y de adultos. En esta publicacion se analiza esta problematica y se revisan las soluciones aconsejadas para su mejor desarrollo.

Oclusión basilar pediátrica tratada mediante trombectomía con stents extractores / A paediatric case of basilar occlusion treated with mechanical thrombectomy using stent retrievers

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[Complex febrile crises: should we change the way we act?]. / Crisis febriles complejas: debemos cambiar nuestro modo de actuacion?

INTRODUCTION: Febrile seizures are one of the most frequent reasons why patients visit the healthcare specialist. Up until now, patients with complex febrile seizures (CFS) have been hospitalised, bearing in mind the higher percentages of epilepsy and acute complications that were classically reported. Today there are studies that back the idea of being less invasive in the management of these patients. AIMS. To describe the characteristics of patients hospitalised due to CFS and to propose a new protocol to be followed in dealing with such cases. PATIENTS AND METHODS: The medical records of patients hospitalised because of CFS (January 2010-December 2013) were analysed retrospectively. Epidemiological and clinical data are presented, together with information from complementary tests and about development. RESULTS: CFS account for 4.2% of all neuropaediatric cases of admittance to hospital in (67 patients). Mean age at the time of the event: 25 months. A pathological family history existed in 47% of cases, and 31% had a previous personal history of febrile seizures. The CFS lasted less than five minutes in 54% of patients; there were also recurrences, most of them with a total of two crises and during the first day (CFS due to recurrence are the most frequent). None of the complementary tests that were carried out were of any use as a diagnostic aid during the acute phase. During their follow-up, five patients presented complications. Patients with a family history of febrile seizures presented a higher risk of epilepsy or recurrence (p = 0.02), with no significant differences as regards age, number of seizures, febrile interval, epileptic status or type of CFS. CONCLUSIONS: The CFS are not associated with greater acute complications, and the complementary examinations do not allow high-risk patients to be distinguished at an early stage. Hospitalising them could be avoided in the absence of other clinical signs and symptoms, and thus be limited to selected cases.

TITLE: Crisis febriles complejas: debemos cambiar nuestro modo de actuacion?Introduccion. Las convulsiones febriles son una de las causas mas frecuentes de consulta. Hasta ahora, los pacientes con convulsiones febriles complejas (CFC) deben ingresar, dado el mayor porcentaje de epilepsia y complicaciones agudas descrito clasicamente. En la actualidad hay estudios que apoyan ser menos invasivos en el abordaje de estos pacientes. Objetivo. Describir las caracteristicas de los pacientes ingresados por CFC y proponer un nuevo protocolo de actuacion. Pacientes y metodos. Analisis retrospectivo de historias clinicas de ingresados por CFC (enero de 2010-diciembre de 2013). Se ofrecen datos epidemiologicos, clinicos, pruebas complementarias y evolucion. Resultados. Las CFC suponian un 4,2% de los ingresos de neuropediatria (n = 67). Edad media al evento: 25 meses. El 47% tenia antecedentes familiares patologicos, y el 31%, antecedentes personales de convulsion febril previa. En el 54% de los pacientes, la CFC duro menos de cinco minutos; hubo recurrencia, la mayoria con un total de dos crisis y durante el primer dia (las CFC por recurrencia son las mas frecuentes). De las pruebas complementarias realizadas, ninguna de ellas sirvio como apoyo diagnostico en el momento agudo. Durante su seguimiento, cinco pacientes presentaron complicaciones. Los pacientes con antecedentes familiares de convulsiones febriles presentan mayor riesgo de epilepsia o recurrencia (p = 0,02), sin diferencias significativas respecto a la edad, numero de crisis, intervalo de fiebre, estado epileptico o tipo de CFC. Conclusiones. Las CFC no asocian mayores complicaciones agudas; las exploraciones complementarias no permiten discriminar precozmente a los pacientes de riesgo. Su ingreso podria evitarse en ausencia de otros signos clinicos y limitarse a casos seleccionados.

Variantes clínicas de epilepsia rolándica y su implicación en el pronóstico / Rolandic epilepsy clinical variants and their influence on the prognosis

Introducción: La epilepsia benigna con puntas centro-temporales (EBPCT) es el síndrome epiléptico más frecuente de la infancia, tiene carácter edad-dependiente, elevada predisposición genética y curso benigno. El objetivo de este trabajo es describir el curso clínico y el pronóstico de 60 pacientes diagnosticados de EBPCT en nuestro centro. Pacientes y métodos: Revisión retrospectiva de los pacientes diagnosticados de EBPCT en un hospital universitario (1995-2009). Se dividieron en 2 grupos: a) pacientes que cumplían todos los criterios clásicos de EBPCT, y b) cumplían los criterios excepto uno (menos de 4 años; crisis en vigilia; alteraciones EEG no típicas).Resultados: Se seleccionó a 60 pacientes, 34 varones y 26 mujeres. Se incluyó a 31 pacientes en el grupo 1 y a 29 en el grupo 2. Edad media de inicio en el grupo 1: 7,45 años; grupo 2: 6,55 años. Se indicó tratamiento médico en 32,2% de pacientes del grupo 1, y en 41,3% del grupo 2. La evolución fue favorable en la mayoría: 58% en el grupo 1 y 62,1% en el 2 estaban libres de crisis tras un año. Edad media a la que desaparecieron: 8,54 años en el grupo 1 y 7,84 años en el grupo 2. No se encontraron diferencias estadísticamente significativas en ninguno de estos parámetros.Conclusiones: A diferencia de lo que algunos autores habían publicado, en este trabajo no se han identificado factores clínicos de mala evolución en pacientes con EBPCT, de modo que su diagnóstico se correlaciona con una evolución favorable y un excelente pronóstico neurológico (AU)

Introduction: Benign epilepsy with central-temporal spikes (BECTS) is the most common epileptic syndrome in childhood. It is an age-dependent, genetically determined and benign condition. The aim of this study is to describe the clinical course and prognosis in 60 patients with BECTS diagnosed in our hospital. Patients and methods: We made a retrospective review of patients diagnosed with BECTS in a University Hospital (1995-2009). They were divided into 2 groups: 1) Patients who met all BECTS classical criteria. 2) Patients who met all the criteria but one (less than 4 years; diurnal seizures; atypical EEG abnormalities). Results: A total of 60 patients, 34 males and 26 females were included, with 31 patients in group 1 and 29 in group 2. The mean age at onset in group 1: 7.45 years, group 2: 6.55 years. Medical treatment was indicated in 32.2% of patients in group 1 and 41.3% in group 2. The outcome was favourable in the majority: 58% in group 1 and 62.1% in group 2 were free of seizures after 1 year. Average age in which it disappeared: 8.54 years in group 1 and 7.84 years in group 2. There were no statistically significant differences in any of these parameters.Conclusions: Unlike that published by some authors, we have not identified any poor outcome factors in patients with BECTS in this study, meaning that an accurate diagnosis correlates with a good prognosis and excellent neurological outcome (AU)

Neuritis del III par: diagnóstico por neuroimagen / Cranial nerve III neuritis: diagnosis by neuroimaging

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[Rolandic epilepsy clinical variants and their influence on the prognosis]. / Variantes clínicas de epilepsia rolándica y su implicación en el pronóstico.

INTRODUCTION: Benign epilepsy with central-temporal spikes (BECTS) is the most common epileptic syndrome in childhood. It is an age-dependent, genetically determined and benign condition. The aim of this study is to describe the clinical course and prognosis in 60 patients with BECTS diagnosed in our hospital. PATIENTS AND METHODS: We made a retrospective review of patients diagnosed with BECTS in a University Hospital (1995-2009). They were divided into 2 groups: 1) Patients who met all BECTS classical criteria. 2) Patients who met all the criteria but one (less than 4 years; diurnal seizures; atypical EEG abnormalities). RESULTS: A total of 60 patients, 34 males and 26 females were included, with 31 patients in group 1 and 29 in group 2. The mean age at onset in group 1: 7.45 years, group 2: 6.55 years. Medical treatment was indicated in 32.2% of patients in group 1 and 41.3% in group 2. The outcome was favourable in the majority: 58% in group 1 and 62.1% in group 2 were free of seizures after 1 year. Average age in which it disappeared: 8.54 years in group 1 and 7.84 years in group 2. There were no statistically significant differences in any of these parameters. CONCLUSIONS: Unlike that published by some authors, we have not identified any poor outcome factors in patients with BECTS in this study, meaning that an accurate diagnosis correlates with a good prognosis and excellent neurological outcome.

[A descriptive study of neurocysticercosis in a tertiary care hospital]. / Estudio descriptivo de neurocisticercosis en un hospital terciario.

INTRODUCTION: Neurocysticercosis is the most frequent parasitic disease affecting the central nervous system. It is a disease that is endemic to certain countries in South America. The phenomenon of immigration, however, has increased its prevalence in developed regions due to the arrival of immigrants from endemic areas. AIM: To present the clinical and demographic characteristics of the cases of neurocysticercosis attended in a tertiary care hospital in the city of Murcia. PATIENTS AND METHODS: We conducted a descriptive, retrospective study by reviewing the medical records of patients with a hospital diagnosis of neurocysticercosis over a nine-year period (1997-2005). Demographic and clinical data on these patients were collected. RESULTS: Twenty-three patients (three under 12 years of age) were found. Mean age: 29.6 years. Countries of origin: Ecuador and Bolivia. The most frequently observed clinical manifestations were: epileptic seizures (73.9%), headache (39.1%) and neurological focus (26.1%). Albendazole was employed in 91.3% of cases and corticoids in 73.9%. The most frequently used drug in patients who received antiepileptic therapy was phenytoin. Four patients required surgical treatment. During the follow-up period, 52.8% of the patients were asymptomatic. CONCLUSIONS: Neurocysticercosis is a disease that is becoming increasingly more prevalent in Spain and we should suspect its presence in patients from endemic areas who visit because of clinical symptoms involving the central nervous system.

Estudio descriptivo de neurocisticercosis en un hospital terciario / A descriptive study of neurocysticercosis in a tertiary care hospital

La neurocisticercosis es la enfermedad parasitaria más frecuente del sistema nervioso central. Setrata de una enfermedad endémica de ciertos países de Sudamérica. Sin embargo, debido al fenómeno de la inmigración, ha aumentado su prevalencia en zonas desarrolladas debido a la llegada de inmigrantes procedentes de áreas endémicas. Objetivo.Presentar las características clínicas y demográficas de los casos de neurocisticercosis atendidos en un hospital terciario de la ciudad de Murcia. Pacientes y métodos. Estudio descriptivo, retrospectivo mediante revisión de historias clínicas de pacientes con diagnóstico hospitalario de neurocisticercosis en un período de nueve años (1997-2005). Se recogen los datosdemográficos y clínicos de estos pacientes. Resultados. Se estudiaron 23 pacientes (tres menores de 12 años). Edad media: 29,6 años. Países de origen: Ecuador y Bolivia. Las manifestaciones clínicas más frecuentes fueron: crisis epilépticas (73,9%),cefalea (39,1%) y focalidad neurológica (26,1%). Se utilizó albendazol en el 91,3% de los casos y corticoides en el 73,9%. De los pacientes que recibieron tratamiento antiepiléptico, el fármaco más utilizado fue la fenitoína. cuatro pacientes precisarontratamiento quirúrgico. En el período de seguimiento estaban asintomáticos el 52,8% de los pacientes. Conclusiones. La neurocisticercosis es una enfermedad cada vez más prevalente en España y que debemos sospechar en pacientes procedentes de zonasendémicas que consulten por clínica de afectación del sistema nervioso central

Neurocysticercosis is the most frequent parasitic disease affecting the central nervous system. It is adisease that is endemic to certain countries in South America. The phenomenon of immigration, however, has increased its prevalence in developed regions due to the arrival of immigrants from endemic areas. Aim. To present the clinical and demographic characteristics of the cases of neurocysticercosis attended in a tertiary care hospital in the city of Murcia.Patients and methods. We conducted a descriptive, retrospective study by reviewing the medical records of patients with a hospital diagnosis of neurocysticercosis over a nine-year period (1997-2005). Demographic and clinical data on these patients were collected. Results. Twenty-three patients (three under 12 years of age) were found. Mean age: 29.6 years. Countries of origin: Ecuador and Bolivia. The most frequently observed clinical manifestations were: epileptic seizures(73.9%), headache (39.1%) and neurological focus (26.1%). Albendazole was employed in 91.3% of cases and corticoids in 73.9%. The most frequently used drug in patients who received antiepileptic therapy was phenytoin. Four patients requiredsurgical treatment. During the follow-up period, 52.8% of the patients were asymptomatic. Conclusions. Neurocysticercosis is a disease that is becoming increasingly more prevalent in Spain and we should suspect its presence in patients from endemicareas who visit because of clinical symptoms involving the central nervous system

[An unusual cause of failure of weaning from mechanical ventilation in an infant]. / Una causa inusual de fracaso del destete de la ventilación mecánica en un lactante.

The weaning process is a critical phase in patients undergoing mechanical ventilation. This process can be hampered by numerous causes, such as neuromuscular diseases and spinal muscular atrophy (SMA). We present a 6-month-old boy with respiratory distress, fever, marked hypotonia without motor developmental milestones, and areflexia. The patient showed progressive respiratory distress requiring mechanical ventilation. Definitive weaning was not achieved and the boy died from respiratory failure. Partial autopsy was performed with a diagnosis of SMA and genetic study of the parents. Neuromuscular diseases are an infrequent cause of respiratory insufficiency in suckling infants. The differential diagnosis is made between axonal and motor neuron diseases. The diagnosis was confirmed by muscular biopsy and genetic study.

Una causa inusual de fracaso del destete de la ventilación mecánica en un lactante / An unusual cause of failure of weaning from mechanical ventilation in an infant

El proceso de destete es una fase crítica del paciente tratado con soporte ventilatorio que puede verse dificultada por numerosas causas entre las que se encuentran las enfermedades neuromusculares, como la atrofia muscular espinal (AME). Lactante de 6 meses que presenta dificultad respiratoria y fiebre llamando la atención una marcada hipotonía generalizada sin logros motrices y arreflexia rotuliana. El niño sufre deterioro respiratorio con necesidad de asistencia ventilatoria mecánica sin lograrse un destete definitivo. Fallece por fallo respiratorio, realizándose necropsia parcial con diagnóstico de AME y estudio genético de progenitores. Las enfermedades neuromusculares son una causa poco frecuente de insuficiencia respiratoria en lactantes. Se realiza un diagnóstico diferencial entre las enfermedades de motoneurona, enfermedades axonales y enfermedades de placa motora. El diagnóstico fue confirmado por la biopsia muscular y el estudio genético

The weaning process is a critical phase in patients undergoing mechanical ventilation. This process can be hampered by numerous causes, such as neuromuscular diseases and spinal muscular atrophy (SMA). We present a 6-month-old boy with respiratory distress, fever, marked hypotonia without motor developmental milestones, and areflexia. The patient showed progressive respiratory distress requiring mechanical ventilation. Definitive weaning was not achieved and the boy died from respiratory failure. Partial autopsy was performed with a diagnosis of SMA and genetic study of the parents. Neuromuscular diseases are an infrequent cause of respiratory insufficiency in suckling infants. The differential diagnosis is made between axonal and motor neuron diseases. The diagnosis was confirmed by muscular biopsy and genetic study

Neurotóxicos medioambientales (IV). Tabaco, alcohol, solventes, flúor y aditivos alimentarios: efectos adversos en el sistema nervioso fetal y postnatal y medidas preventivas / Environmental neurotoxins (IV). Tobacco, alcohol, solvents, fluoride, food additives: adverse effects on the fetal and postnatal nervous system. Preventive measures

Objetivos: 1) Divulgar la neurotoxicidad del humo del tabaco, alcohol y otros solventes, flúor y algunos aditivos alimentarios, y 2) recomendar las medidas preventivas para minimizar/eliminar su exposición. Materiales y métodos: Revisión bibliográfica sistemática de los efectos en el sistema nervioso central (SNC) en desarrollo. Búsqueda en MEDLlNE. Science Citation Index y Embase de los trabajos observacionales de exposición a bajas dosis en humanos y de experimentación en animales de los últimos 10 años. Resultados: 1) El tabaquismo activo y pasivo de las madres gestantes provoca trastornos del aprendizaje, déficit de atención y del cociente intelectual (CI) persistente, y está asociado con un menor rendimiento académico en la descendencia, 2) la exposición fetal a bajas dosis de alcohol se ha asociado con hiperactividad, trastornos de atención, de aprendizaje y deterioro de la memoria en la descendencia; 3) la exposición a solventes por hobbies o aficiones en el hogar puede ser un factor de riesgo considerable, especialmente en áreas mal ventiladas, 4) estudios en animales y humanos sugieren que la exposición al flúor, a los niveles a que se expone la población por fluoración del agua potable y otros suplementos, puede tener efectos adversos sobre el neurodesarrollo. y 5) en animales de experimentación los efectos neurotóxicos por aspartamo y glutamato requieren dosis mucho mayores que las de la dieta humana. Conclusiones: 1) El SNC fetal e infantil es especialmente vulnerable a la exposición a bajas dosis de humo de tabaco y alcohol; 2) no existe un nivel seguro de exposición ni para el tabaco ni para el alcohol; 3) el registro en la consulta de los hobbies o aficiones en el hogar con solventes permitirá detectar familias en riesgo; 4) los suplementos de flúor sólo están indicados en poblaciones de riesgo; 5) la relación entre la dieta y el comportamiento en niños con trastornos de déficit de atención e hiperactividad es incierta, y 6) la historia ambiental pediátrica es necesaria para avanzar en el conocimiento y en los aspectos preventivos, pronósticos y evolutivos de las enfermedades relacionadas con estas exposiciones

Objectives: 1) To make pediatricians aware of the neurotoxicity of: a) tobacco smoke, b) alcohol and other solvents, c) fluoride, and d) certain food additives; and 2) to recommend preventive measures to minimize/eliminate fetal and postnatal exposure. Materials and methods: A systematic review of the literature was conducted to explore the toxic effects of these substances on the fetal and postnatal nervous system. The authors carried out a search for the observational studies on low-dose exposure in humans and laboratory animals indexed over the past 10 years in Medline, the Science Citation Index and Embase. Results: 1) The exposure of women to first hand and second hand cigarette smoke during pregnancy leads to learning disabilities, persistent attention deficits and a low intelligence quotient (IQ) in their children, resulting in poorer academic performance. 2)Fetal exposure to low doses of alcohol is associated with hyperactivity, attention and learning deficits, and poor memory in the child. 3) Exposure to solvents employed in hobbies and pastimes in the home can be a considerable risk factor, especially in poorly ventilated areas. 4) Animal and human studies suggest that exposure to fluoride, at levels similar to those foundin fluoridated drinking water, and to other supplements can have adverse effects on neuronal development. 6) In animal studies, the adverse effects of aspartame and glutamatea re produced at much higher doses than those found in the human diet. Conclusions: 1)The fetal and postnatal central nervous system is especially vulnerable to low-dose exposure to cigarette smoke and alcohol. 2) There are no threshold levels of exposurefor cigarette smoke and alcohol. 3) During well-child visits, the recording pastime and hobbies that involves the use of solvents enables the detection of families at risk. 4) Fluoride supplements are indicated only in populations at risk. 5) Therelation ship between diet and the behavior of children with attention deficit hyperactivity disorder (ADHD) is unclear. 6) The Pediatric Environmental History (PEH) is necessary to expandour knowledge of the health hazards related to these exposures in terms of prevention, prognosis and outcome

[Markers of poor prognosis in convulsive status epilepticus]. / Factores de mal pronóstico en el estado epiléptico convulsivo.

OBJECTIVE: To characterize the variables that might be associated with mortality and the development of neurological deficits in children with convulsive status epilepticus. PATIENTS AND METHODS: Children older than 1 month and younger than 15 years who were admitted to the pediatric intensive care unit of a university hospital between 2001 and 2004 were reviewed. Epidemiologic and clinical factors that might be related to neurological outcome at discharge from the unit were analyzed. RESULTS: Forty-one patients (median age 24 months) were included. A total of 48.3% developed refractory convulsive status epilepticus. Six patients died (mortality 14.6%) during their intensive care unit stay and neurologic worsening was observed in 8.6% of survivors (adverse outcome in 22%). Symptomatic epilepsy was present in all patients who died and in 88.9% of those who recovered with severe neurologic sequelae. Uni- and multivariate analysis showed that adverse outcome was related to symptomatic origin and refractory convulsive status epilepticus (p < 0.05). CONCLUSIONS: Mortality and morbidity is high in childhood convulsive status epilepticus. Refractory convulsive status and symptomatic origin were markers of poor outcome. Children who did not have symptomatic epilepsy had a favorable outcome.

Factores de mal pronóstico en el estado epiléptico convulsivo / Markers of poor prognosis in convulsive status epilepticus

Objetivo: Investigar las variables que se asocian a la mortalidad y al desarrollo de secuelas neurológicas en los niños con estado epiléptico convulsivo. Pacientes y métodos: Revisión de los casos con estado epiléptico convulsivo, en niños mayores de un mes y menores de 15 años, tratados en la unidad de cuidados intensivos pediátricos de un hospital universitario entre los años 2001 y 2004. Se analizaron factores epidemiológicos y clínicos en relación con el estado neurológico al alta de la unidad. Resultados: Se incluyeron 41 pacientes con una edad mediana de 24 meses. El 43,9 % desarrolló estado epiléptico convulsivo refractario. Fallecieron 6 pacientes (mortalidad: 14,6 %) y en el 8,6 % de los supervivientes se observó un deterioro neurológico con respecto a su situación previa (mala evolución en el 22 %). Todos los pacientes que fallecieron y el 88,9 % de los que presentaron secuelas graves eran portadores de formas sintomáticas. El análisis univariante y multivariante reflejaron que la etiología sintomática y el estado epiléptico refractario se asociaron con un mal pronóstico (p < 0,05). Conclusiones: La morbimortalidad del estado epiléptico convulsivo es elevada y se relaciona con la etiología sintomática y con el desarrollo de resistencia al tratamiento. Los niños que no presentan un estado epiléptico convulsivo de tipo sintomático presentan un pronóstico favorable

Objective: To characterize the variables that might be associated with mortality and the development of neurological deficits in children with convulsive status epilepticus. Patients and methods: Children older than 1 month and younger than 15 years who were admitted to the pediatric intensive care unit of a university hospital between 2001 and 2004 were reviewed. Epidemiologic and clinical factors that might be related to neurological outcome at discharge from the unit were analyzed. Results: Forty-one patients (median age 24 months) were included. A total of 48.3 % developed refractory convulsive status epilepticus. Six patients died (mortality 14.6 %) during their intensive care unit stay and neurologic worsening was observed in 8.6 % of survivors (adverse outcome in 22 %). Symptomatic epilepsy was present in all patients who died and in 88.9 % of those who recovered with severe neurologic sequelae. Uni- and multivariate analysis showed that adverse outcome was related to symptomatic origin and refractory convulsive status epilepticus (p < 0.05). Conclusions: Mortality and morbidity is high in childhood convulsive status epilepticus. Refractory convulsive status and symptomatic origin were markers of poor outcome. Children who did not have symptomatic epilepsy had a favorable outcome

[Lethal nemalinic myopathy and congenital arthrogryposis]. / Miopatía nemalínica letal y artrogriposis congénita.

INTRODUCTION: Nemalinic myopathy (NM) is a non progressive congenital disorder of skeletal muscle, characterized by rod like formations present in muscle fibres, whilst congenital multiple arthrogryposis (CMA) is a syndrome characterized by contractures and articular rigidity which may be due to many causes, including NM. CLINICAL CASE: A boy of 0 h of premature life, with CMA was assessed on the suspicion of neuromuscular disease with normal preliminary studies. Muscle biopsy eventually showed the typical rod like formations of NM. The clinical course was unsatisfactory and he died at the age of five months from respiratory problems. CONCLUSIONS: Diagnosis of NM requires a high index of suspicion and muscle biopsy. At the present time genetic counselling cannot be given after a sporadic case.

Narcolepsia en niños / Narcolepsy in children

Introducción. La narcolepsia es un trastorno neurológico caracterizado por somnolencia excesiva durante el día, con episodios recurrentes e irresistibles de sueño, que asocia en las formas completas cataplejía, alucinaciones hipnagógicas y parálisis del sueño. La incidencia comunicada en el adulto es 4-10/ 10.000. Un porcentaje considerable de adultos reconoce su inicio antes de los 15 años de edad. Es imprescindible la confirmación neurofisiológica de los períodos cortos de inicio de sueño REM. Caso clínico. Varón de 11 años, con hipersomnolencia diurna, trastorno de conducta y aumento de peso, que se evaluó en Unidad de Trastornos del Sueño mediante polisomnografía y test de latencias múltiples, confirmándose la sospecha de narcolepsia. Conclusiones. La narcolepsia es una enfermedad de inicio en la infancia y que habitualmente pasa desapercibida o erróneamente diagnosticada y tratada. Existen actualmente criterios válidos para identificar y diagnosticar a los niños con el trastorno. El tratamiento de estos pacientes debe orientarse a la adaptación del entorno al niño y la prevención de problemas psicosociales que origina, dada la pobre respuesta a los fármacos empleados (AU)

[Narcolepsy in children]. / Narcolepsia en niños.

INTRODUCTION: Narcolepsy is a neurological disorder characterized by excessive somnolence during the daytime, with recurrent, irresistible episodes of sleepiness. The complete forms are associated with cataplexy, hypnagogic hallucinations and sleep paralysis. The incidence reported in adults is 4 10/10,000. A considerable proportion of adults consider their disorder to have started before the age of 15 years. It is essential to have neurophysiological confirmation of the short period of the onset of REM sleep for diagnosis. CLINICAL CASE: An 11 year old boy with diurnal hypersomnolence, behavior disorder and weight gain. He was evaluated in the Sleep Disorder Unit by polysomnography and the multiple latency test, which confirmed the suspicion of narcolepsy. CONCLUSIONS: Narcolepsy is a disorder which starts during childhood and usually goes unnoticed or is erroneously diagnosed and treated. At the present time there are valid criteria for the identification and diagnosis of children with this disorder. Treatment of these patients should be orientated towards adaptation of the environment to the child and prevention of the psychosocial problems which may be caused by this disorder, in view of the poor response to the drugs used.

[Multiple sclerosis: a case report of early onset]. / Esclerosis múltiple: a propósito de un caso de inicio muy precoz.

INTRODUCTION: Multiple sclerosis (MS) usually presents in young adults and is uncommon in children, especially when less than 10 years of age. Diagnosis is difficult in this age group, and we consider that Poser's diagnostic criteria should be used. CLINICAL CASE: A five year old girl presented with multiple symptoms and signs including headache, vomiting and a pyramidal syndrome. Initially there was spontaneous improvement. However, subsequently progressive worsening of the pyramidal syndrome occurred with marked cerebellar and general deterioration. On cerebral MR there were areas of increased resonance in the medulla, cerebellum, pons, periventricular white substance and basal ganglia. Acute disseminated encephalomyelitis was diagnosed (ADEM) and treatment started with corticosteroids. There was a satisfactory response and complete recovery after a few days. Eight months later she presented with right optic neuritis (ON). There was alteration of visual and somatosensory evoked potentials, signs of diffuse cerebral damage on the EEG, oligoclonal bands (OB) of IgG in the cerebrospinal fluid and new areas of increased resonance on MR. A third episode occurred 22 months after the first, with cerebellar symptoms and more areas of demyelination on MR. CONCLUSIONS: As a consequence of the low incidence of MS in the first ten years of life, the characteristic features at this age are less well defined than in adults. With reference to this case we review the differential diagnosis with ADEM since it may be very difficult or impossible to distinguish these conditions in the early stages of the illness.