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.

[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)