Asociación entre malformaciones congénitas del sistema nervioso central y epilepsia en pacientes pediátricos de México / A link between congenital malformations of the central nervous system and epilepsy in paediatric patients in mexico

Introducción. Al ser la epilepsia una de las causas más frecuentes de atención en Neurología pediátrica, es necesario considerar una de las causas asociadas a la misma, la presencia de malformaciones congénitas, como segunda causa generadora de epilepsia; por ello, sobre la base de su neurodesarrollo, se pueden identificar las diferentes variedades de defectos congénitos relacionados con las epilepsias en Pediatría. Objetivo. Conocer las diferentes malformaciones congénitas asociadas a la epilepsia en Pediatría. Pacientes y métodos. Se incluyeron 116 casos con diagnóstico de epilepsia asociado a malformaciones congénitas del sistema nervioso central, en los que se evaluaron los estudios de imagen, como la resonancia magnética y tomografía computarizada de cráneo, y se agruparon de acuerdo al desarrollo cronológico embrionario normal del ser humano. Resultados. Todos los casos se seleccionaron por edad, y el grupo predominante se detectó en los menores de un año y en el grupo de escolares, con los trastornos de migración, entre los que se incluye la lisencefalia, como principal malformación; el otro grupo fue el de los trastornos de proliferación; en cuanto a los tipos de epilepsia asociados, los dos grupos de síndromes epilépticos en la infancia más comunes fueron el síndrome de West y el de Lennox-Gastaut; tomando en consideración los tipos de crisis epilépticas encontradas, correspondió a las crisis parciales. Conclusiones. Lo anterior muestra como principal causa asociada a la epilepsia las malformaciones congénitas del sistema nervioso central, y el estudio de neuroimagen con mayor sensibilidad hoy día es la resonancia magnética, por lo que se sugiere la utilización de este procedimiento en los casos en los que no se encuentre una causa aparente, para afinar con mayor precisión esta entidad nosológica. A pesar de la causa multifactorial, las edades menores de 25 y mayores de 35 años en las madres embarazadas se consideran de mayor riesgo potencial, sin predominio de área geográfica (AU)

Introduction. Since epilepsy is one of the most frequent causes of visits in Paediatric Neurology, attention must be given to one of the causes linked to it, namely congenital malformation, which is the second most common cause of epilepsy. To this end, different forms of congenital defects related to epilepsy in Paediatric medicine can be identified according to their neurodevelopment. Aims. The purpose of this study was to determine the different congenital malformations associated to epilepsy in Paediatrics. Patients and methods. We took a sample consisting of 116 patients diagnosed as suffering from epilepsy associated with congenital malformations of the central nervous system, following an evaluation of imaging studies, magnetic resonance and computerised tomography brain scans; subjects were then grouped according to the normal embryonic chronological development of the human being. Results. From the total number of cases, a selection was made according to age, where the predominant group was found in those below one year of age and in the group of school-age children, and migration disorders, where the main malformation included was lissencephaly; the other group was made up of proliferation disorders. Similarly, the associated types of epilepsy were the most common childhood epileptic syndromes, West and Lennox-Gastaut syndrome. The types of epileptic seizures that were found were partial seizures. Conclusions. The study outlined above shows congenital malformations of the central nervous system to be the main cause associated to epilepsy and the most sensitive neuroimaging study currently available is magnetic resonance. For this reason we suggest the use of this procedure in cases in which no apparent cause can be found so that this nosological entity can be defined to a greater degree of precision. Despite its multifactorial causation, being below 25 years of age and above 35 at the time of pregnancy is considered to constitute a higher potential risk, while no geographic location was found to predominate (AU)

[A link between congenital malformations of the central nervous system and epilepsy in paediatric patients in Mexico]. / Asociación de malformaciones congénitas del sistema nervioso central y epilepsia en pacientes pediátricos de México.

INTRODUCTION: Since epilepsy is one of the most frequent causes of visits in Paediatric Neurology, attention must be given to one of the causes linked to it, namely congenital malformation, which is the second most common cause of epilepsy. To this end, different forms of congenital defects related to epilepsy in Paediatric medicine can be identified according to their neurodevelopment. AIMS: The purpose of this study was to determine the different congenital malformations associated to epilepsy in Paediatrics. PATIENTS AND METHODS: We took a sample consisting of 116 patients diagnosed as suffering from epilepsy associated with congenital malformations of the central nervous system, following an evaluation of imaging studies, magnetic resonance and computerised tomography brain scans; subjects were then grouped according to the normal embryonic chronological development of the human being. RESULTS: From the total number of cases, a selection was made according to age, where the predominant group was found in those below one year of age and in the group of school-age children, and migration disorders, where the main malformation included was lissencephaly; the other group was made up of proliferation disorders. Similarly, the associated types of epilepsy were the most common childhood epileptic syndromes, West and Lennox-Gastaut syndrome. The types of epileptic seizures that were found were partial seizures. CONCLUSIONS: The study outlined above shows congenital malformations of the central nervous system to be the main cause associated to epilepsy and the most sensitive neuroimaging study currently available is magnetic resonance. For this reason we suggest the use of this procedure in cases in which no apparent cause can be found so that this nosological entity can be defined to a greater degree of precision. Despite its multifactorial causation, being below 25 years of age and above 35 at the time of pregnancy is considered to constitute a higher potential risk, while no geographic location was found to predominate.

[The value of topiramate used with conventional schemes as an adjunctive therapy in the treatment of Lennox-Gastaut syndrome]. / Utilidad del topiramato como terapia añadida a esquemas convencionales para el síndrome de Lennox-Gastaut.

INTRODUCTION: Lennox Gastaut syndrome (LGS), which appears in children aged between 2 and 8 years old, is characterised by a triad of epileptic seizures with different patterns, variable degrees of mental retardation, an electroencephalogram (EEG) with slow spike wave complexes at 1.5 4 Hz and bursts of rapid centrotemporal activity, with a variable response in the control of the epileptic seizures. It requires polytherapy with associations between conventional and new antiepileptic drugs, including topiramate, with variable results in the control of seizures, especially in this syndrome, which has no known response in Mexico. Aim. To determine how it responds when topiramate (TPM) is associated with another antiepileptic drug, in order to diminish the recurrence of seizures by 50% and to improve the quality of life of Mexican children. METHOD: The study was conducted in a sample of 15 children aged between 2 and 15 years old who had been diagnosed as suffering from LGS and who used more than three conventional antiepileptic drugs. After obtaining prior authorisation from the person in charge, the frequency, duration and clinical patterns of the seizures were evaluated. Since the dosages used and the serum levels, which should be within those considered to be therapeutic, were already known for each of the subjects, we administered a Quolie 10 survey before beginning with TPM. Those who presented no modifications in the frequency and duration of the seizures over a two month period were included and treatment began gradually with 2 mg/kg/day and rose to 10 mg/kg/day as the maximum dosage. Once the frequency and duration had diminished by more than 50%, the decision was made to stop more than two antiepileptic drugs, but preferably to continue with the valproic acid. The result obtained from 15 children was a remission in over 50% of the cases and an improvement in the quality of life of the children, despite the fact that the duration ranged from six months to a year. CONCLUSION: In this group of patients TPM is useful for the control or remission of seizures and, consequently, we suggest it should be administered in the Mexican population associated with valproic acid or new antiepileptic drugs.

Utilidad del topiramato como terapia añadida a esquemas convencionales para el síndrome de Lennox-Gastaut / The value of topiramate used with conventional schemes as an adjunctive therapy in the treatment of Lennox-Gastaut syndrome

Introducción. El síndrome de Lennox-Gastaut (SLG), presente entre los 2 y 8 años, se caracteriza por una tríada de crisis epilépticas de diversos patrones, un retraso mental de grado variable, un electroencefalograma (EEG) con complejos de punta-onda lenta de 1,5-4 Hz y trenes de actividad rápida centrotemporal, con una respuesta variable en el control de las crisis epilépticas. Requiere politerapia con asociaciones de antiepilépticos convencionales y nuevos, entre ellos el topiramato, con resultados variables para el control de las crisis, particularmente en este síndrome, donde se desconoce una respuesta en México. Objetivo. Conocer su respuesta al asociar topiramato (TPM) a otro antiepiléptico, para disminuir en más del 50 por ciento la recurrencia de las crisis y mejorar la calidad de vida en los niños mexicanos. Desarrollo. Se incluyeron 15 niños con edades comprendidas entre los 2 y 15 años de edad, con diagnóstico de SLG, y en quienes se utilizaron más de tres drogas antiepilépticas convencionales, en los que tras una previa autorización del responsable se evaluó la frecuencia, duración y los patrones clínicos de las crisis. Conociendo la dosis utilizada y los niveles séricos de cada uno de ellos, que deberían estar dentro de los terapéuticos, realizamos, antes de iniciar TPM, un cuestionario Quolie 10. Se incluyeron los que durante dos meses no presentaron modificaciones en la frecuencia y duración de las crisis, para iniciar gradualmente a partir de 2 mg/kg/día e incrementar hasta 10 mg/kg/día de dosis máxima. Una vez disminuyó la frecuencia y duración en más del 50 por ciento, se decidió suspender más de dos antiepilépticos, pero manteniendo preferentemente el ácido valproico. Los resultados que se obtuvieron en 15 niños fue de remisión en más del 50 por ciento de los casos y una mejoría de la calidad de vida de los niños, a pesar de que la duración varía de seis meses a un año. Conclusión. En este grupo de pacientes es útil el TPM para el control o remisión de las crisis, en consecuencia, se sugiere su administración en la población mexicana asociado con ácido valproico o nuevos antiepilépticos (AU)

Introduction. Lennox-Gastaut syndrome (LGS), which appears in children aged between 2 and 8 years old, is characterised by a triad of epileptic seizures with different patterns, variable degrees of mental retardation, an electroencephalogram (EEG) with slow spike-wave complexes at 1.5-4 Hz and bursts of rapid centrotemporal activity, with a variable response in the control of the epileptic seizures. It requires polytherapy with associations between conventional and new antiepileptic drugs, including topiramate, with variable results in the control of seizures, especially in this syndrome, which has no known response in Mexico. Aim. To determine how it responds when topiramate (TPM) is associated with another antiepileptic drug, in order to diminish the recurrence of seizures by 50% and to improve the quality of life of Mexican children. Method. The study was conducted in a sample of 15 children aged between 2 and 15 years old who had been diagnosed as suffering from LGS and who used more than three conventional antiepileptic drugs. After obtaining prior authorisation from the person in charge, the frequency, duration and clinical patterns of the seizures were evaluated. Since the dosages used and the serum levels, which should be within those considered to be therapeutic, were already known for each of the subjects, we administered a Quolie 10 survey before beginning with TPM. Those who presented no modifications in the frequency and duration of the seizures over a two-month period were included and treatment began gradually with 2 mg/kg/day and rose to 10 mg/kg/day as the maximum dosage. Once the frequency and duration had diminished by more than 50%, the decision was made to stop more than two antiepileptic drugs, but preferably to continue with the valproic acid. The result obtained from 15 children was a remission in over 50% of the cases and an improvement in the quality of life of the children, despite the fact that the duration ranged from six months to a year. Conclusion. In this group of patients TPM is useful for the control or remission of seizures and, consequently, we suggest it should be administered in the Mexican population associated with valproic acid or new antiepileptic drugs (AU)

[Griscelli syndrome in México. Description of a case with neurological manifestations]. / Síndrome de Griscelli en México. Descripción de un caso con manifestaciones neurológicas.

INTRODUCTION: Griscelli syndrome is a pathological condition with immunodeficiency and is characterised by hepatosplenomegaly, silvery hair, progressive neurological deterioration, hypogammaglobulinemia and pancytopenia. It is inherited by autosomal recessive transmission and is diagnosed using the histopathological findings from a skin biopsy, characterised by hyperpigmentation with accumulations of melanin, associated to the manifestations described. CASE REPORT: We report on the first case identified in Mexico: the patient, who presented silvery hair, hepatosplenomegaly and pancytopenia, was a member of a family with two children and had no noteworthy antecedents. From the ninth month onwards there was a fast progression of the neurological deterioration, which was characterised by epileptic seizures and flaccid quadriparesis that progressed quickly to a state of coma. Magnetic resonance imaging revealed demyelination of the white matter, mainly in the bilateral frontotemporal area; skin biopsy showed hyperpigmentation with accumulations of melanin. CONCLUSIONS: Immunodeficiencies are serious problems, but associated with dermatological, haematological and neurological data, accompanied by findings obtained by paraclinical haematological explorations, by neuroimaging and skin biopsies, it is possible to establish the proper diagnosis in order to improve quality of life and the progress of the disease. This can be achieved by bone marrow transplant (until now the only therapy available) but it must be performed early and not when the disease is at an advanced stage, when the possibility of recovery becomes more remote

Síndrome de Griscelli en México. Descripción de un caso con manifestaciones neurológicas / Griscelli syndrome in mexico. Description of a case with neurological manifestations

Introducción. El síndrome de Griscelli es una patología con inmunodeficiencia y se caracteriza por hepatoesplenomegalia, cabello plateado, deterioro neurológico progresivo, hipogammaglobulinemia y pancitopenia. Se transmite con carácter autosómico recesivo y su diagnóstico se realiza con los hallazgos histopatológicos de la biopsia de piel, caracterizado por hiperpigmentación con cúmulos de melanina, asociado a las manifestaciones descritas. Caso clínico. Se presenta el primer caso identificado en México, que presentó cabello plateado, hepatoesplenomegalia y pancitopenia; integrante de una familia de dos hijos y sin ningún antecedente de importancia. A partir de los nueve meses aparece una progresión rápida del deterioro neurológico, caracterizado por crisis epilépticas, y cuadriparesia flácida que evolucionó rápidamente al estado de coma. En la resonancia magnética se observó una desmielinización de sustancia blanca de predominio frontotemporal bilateral; la biopsia de piel mostró una hiperpigmentación con cúmulos de melanina. Conclusiones. Las inmunodeficiencias son problemas graves, pero asociados a datos fenotípicos dermatológicos, hematológicos y neurológicos, acompañados de hallazgos paraclínicos hematológicos, de neuroimagen y complementado con la biopsia de piel es posible establecer el diagnóstico oportuno para mejorar la calidad de vida y la progresión de la enfermedad, mediante el procedimiento de trasplante de médula ósea, hasta el momento único recurso terapéutico, pero realizado de forma temprana y no en estadio avanzado, en donde la posible recuperación es más difícil (AU)

Introduction. Griscelli syndrome is a pathological condition with immunodeficiency and is characterised by hepatosplenomegaly, silvery hair, progressive neurological deterioration, hypogammaglobulinemia and pancytopenia. It is inherited by autosomal recessive transmission and is diagnosed using the histopathological findings from a skin biopsy, characterised by hyperpigmentation with accumulations of melanin, associated to the manifestations described. Case report. We report on the first case identified in Mexico: the patient, who presented silvery hair, hepatosplenomegaly and pancytopenia, was a member of a family with two children and had no noteworthy antecedents. From the ninth month onwards there was a fast progression of the neurological deterioration, which was characterised by epileptic seizures and flaccid quadriparesis that progressed quickly to a state of coma. Magnetic resonance imaging revealed demyelination of the white matter, mainly in the bilateral frontotemporal area; skin biopsy showed hyperpigmentation with accumulations of melanin. Conclusions. Immunodeficiencies are serious problems, but associated with dermatological, haematological and neurological data, accompanied by findings obtained by paraclinical haematological explorations, by neuroimaging and skin biopsies, it is possible to establish the proper diagnosis in order to improve quality of life and the progress of the disease. This can be achieved by bone marrow transplant (until now the only therapy available) but it must be performed early and not when the disease is at an advanced stage, when the possibility of recovery becomes more remote (AU)

[Electroencephalographic discoveries in children with infantile massive spasms in Mexico]. / Hallazgos electroencefalográficos en niños con espasmo masivo infantil en México.

INTRODUCTION: Infantile massive spasms (IMS) is an age dependent epileptic syndrome that appears before the first year, and is characterised by delayed psychomotor development, massive spasms and hypsarrhythmia. There are classifications that only take the electroencephalogram (EEG) into account, without linking it with the IMS associated crisis pattern which can establish a treatment to improve the recurrence of the crises in this population, according to EEG discoveries and patterns of epileptic fits. PATIENTS AND METHODS: We include 100 EEGs of patients diagnosed with IMS, between 2 and 12 months old, selected by using the classification of Hrachovy to identify classic and modified hypsarrhythmia, and to correlate it with the pattern of epileptic seizures associated with IMS. RESULTS: The hypsarrhythmia found was mainly of the modified variety, and classic hypsarrhythmia only accounted for 9% of cases. The first case presented flexion IMS with generalised tonic seizures, and in the second, generalised tonic seizures and mixed IMS. Start age was between 2 and 4 months old. CONCLUSIONS: In comparison with results in other publications, in the EEG it was found that modified hypsarrhythmia with IMS associated partial and generalised tonic seizures with was the most common, while in the classic variety mixed IMS predominated. It must be taken into account that the absence of this variety does not rule out a diagnosis of IMS, but its presence makes the prognosis worse.

Hallazgos electroencefalográficos en niños con espasmo masivo infantil en México / Electroencephalographic discoveries in children with infantile massive spasms in mexico

Introducción. El espasmo masivo infantil (EMI) es un síndrome epiléptico edad dependiente antes del año, caracterizado por retraso en el desarrollo psicomotor, espasmos masivos e hipsarritmia. Existen clasificaciones que incluyen sólo el electroencefalograma (EEG), sin correlacionar con patrón de crisis asociado a EMI, que pueda establecer un tratamiento que mejore la recurrencia de las crisis en esta población, de acuerdo a los hallazgos de EEG y patrones de crisis epilépticas. Pacientes y métodos. Incluimos 100 EEG de pacientes con diagnóstico de EMI, entre los 2 y 12 meses, seleccionados con la clasificación de Hrachovy, para identificar la hipsarritmia clásica y la modificada, y correlacionarlas con el patrón de crisis epilépticas asociadas a EMI. Resultados. La variante de hipsarritmia encontrada fue la modificada y sólo en el 9 por ciento se encontró la clásica. En el primer caso, presentó EMI en flexión con crisis tónicas generalizadas, y, en el segundo, fueron las tónicas generalizadas y EMI mixtos. La edad de inicio fue de 2-4 meses de edad. Conclusiones. Comparados los resultados obtenidos en otras publicaciones, en el EEG fue más común la hipsarritmia modificada, con crisis parciales y tónicas generalizadas asociadas a EMI, y en la clásica, EMI mixta; se debe considerar que la falta de esta variante no descarta el diagnóstico de EMI, pero la presencia empeora el pronóstico (AU)