[Megalencephalic leukoencephalopathy with cysts -the clinical importance in the genetic era]. / Leucoencefalopatía megalencefálica con quistes: importancia de la descripción clínica en la era genética.

INTRODUCTION: Megalencephalic leukoencephalopathy with cysts is a leukodystrophy of genetic origin that produces an alteration in the water and ion homeostasis in the brain, generating vacuolar forms and chronic oedema in the white matter with progressive neurological deterioration. It should be suspected in infants who present progressive macrocephaly during the first year of life, motor retardation and characteristic findings in magnetic resonance brain scans. CASE REPORT: We report the case of a girl who was followed up from the age of 9 months due to progressive macrocephaly and delayed psychomotor development and brain MRI findings consistent with megalencephalic leukoencephalopathy with cysts, and the appearance of epilepsy during its development. The usual genetic studies (new generation sequencing and array) were negative, but as the diagnostic criteria were met, a complementary messenger RNA and DNA study was conducted, which confirmed the presence of two pathogenic variants in MLC1. CONCLUSIONS: Megalencephalic leukoencephalopathy with cysts is a rare condition. Progressive macrocephaly in the first year of life, the absence of deterioration or slow deterioration, and the possibility of developing epilepsy, spasticity and ataxia are characteristic signs in its course. It is important for these patients to undergo an imaging test that shows findings that characterise this condition, which, together with the clinical features, makes it possible to differentiate it from other leukodystrophies and to establish a confirmatory diagnosis. Genetic studies can confirm the associated mutation that makes it possible to predict the clinicoradiological phenotype.

TITLE: Leucoencefalopatía megalencefálica con quistes: importancia de la descripción clínica en la era genética.Introducción. La leucoencefalopatía megalencefálica con quistes es una leucodistrofia de origen genético que produce una alteración de la homeostasis del agua e iones en el cerebro, generando formas vacuolares y edema crónico en la sustancia blanca con deterioro neurológico progresivo. Debe sospecharse en los lactantes que presentan macrocefalia progresiva durante el primer año de vida, retraso motor y hallazgos característicos en la resonancia magnética cerebral. Caso clínico. Niña en seguimiento desde los 9 meses por macrocefalia progresiva y retraso del desarrollo psicomotor con presencia en la resonancia magnética cerebral de hallazgos compatibles con leucoencefalopatía megalencefálica con quistes, y aparición de epilepsia en su evolución. Los estudios genéticos habituales (secuenciación de nueva generación y array) fueron negativos, pero, al cumplir los criterios diagnósticos, se procedió al estudio del ARN mensajero y el ADN complementario, que confirmó la presencia de dos variantes patogénicas en MLC1. Conclusiones. La leucoencefalopatía megalencefálica con quistes es una entidad infrecuente. Es característica la macrocefalia progresiva en el primer año de vida, la ausencia de deterioro o deterioro lento, y la posibilidad de desarrollar epilepsia, espasticidad y ataxia en su evolución. Cobra importancia en dichos pacientes la realización de una prueba de imagen que muestre hallazgos propios de la entidad, lo que, junto con la clínica, permite diferenciarla de otras leucodistrofias y establecer un diagnóstico confirmatorio. Los estudios genéticos pueden constatar la mutación asociada que posibilita predecir el fenotipo clinicorradiológico.

[Variability in the treatment of headaches in visits to the Neuropaediatrics service at six Spanish hospitals]. / Variabilidad en el tratamiento de las cefaleas en las consultas de Neuropediatría de seis hospitales españoles.

INTRODUCTION: Headache is one of the chief reasons for visiting Neuropaediatric units. Variability in clinical practice has been defined as variations in the rates a clinical procedure is employed. The aim of this work is to study the variability in the treatment of children's headaches in six Spanish hospitals. PATIENTS AND METHODS: We conducted a retrospective study involving patients who first visited because of a headache some time in the year 1999. Data were collected in December 2003. The following variables were analysed: type of headache, neuroimaging scans, beginning of prophylaxis, follow-up visits to clinic and number of patients who dropped out of the follow-up. RESULTS: In all, 372 children were attended. 63.4% of the headaches were considered as being migraine-type; 43% of the patients were submitted to neuroimaging and prophylaxis was established in 36.8%. Mean follow-up time in the clinic was 10.6 months and the mean number of visits was 3. 30% had dropped out of the follow-up. In the comparative analysis, significant differences were found in all the variables studied. CONCLUSIONS: Overall results are similar to those found in other series. The differences found between centres can be accounted for by differences in population, differences in health professionals' styles of medical practice or by the nonexistence of clear guidelines regarding a particular procedure.

[Intracranial lipomas in paediatrics: a retrospective study of 20 patients]. / Lipomas intracraneales en pediatría: estudio retrospectivo de 20 pacientes.

INTRODUCTION: Intracranial lipomas (ICL) are congenital malformations that are due to an anomalous differentiation of the primitive meninges. AIMS: The purpose of this study is to determine the most frequent symptoms related to ICL in the paediatric age, as well as to evaluate whether they are directly related to their location and to their association with other brain malformations. PATIENTS AND METHODS: A retrospective clinico-radiological study was conducted involving 20 paediatric patients diagnosed as suffering from ICL between 1985 and 2003 at three hospitals in the Valencian Community. RESULTS: 70% of the cases were females and the average age when ICL was diagnosed was 5.3 years (interval from 2 months to 13 years). The most common initial clinical justification for the neuroradiological study was psychomotor retardation in eight patients (40%) and persistent, predominantly migrainous, headaches in six of them (30%). Only one patient was examined because of epilepsy. The prevailing site was the interhemispheric fissure in 10 patients (50%), followed by the quadrigeminal cistern in five (25%) and the mamillary body infundibulum axis in three of them (15%). One case was located in the cerebellum and another was found in the lateral ventricle, with involvement of the choroid fissure. Associated anomalies were observed in eight patients (40%). Alterations were seen in the development of the corpus callosum in six patients (30%), five in an isolated way and in one case there was partial absence of the associated septum pellucidum. Another patient was found to have an isolated partial agenesis of the septum and Goldenhar syndrome was detected in another case. The radiological follow up, which varied according to the initial clinical features, did not show any differences in the morphology or the size of the lipoma. CONCLUSIONS: 1) ICL are more frequently located in the interhemispheric fissure and in the quadrigeminal cistern; 2) In these locations they can be associated with other brain malformations, the most important being defects in the callosa and septa; 3) Most ICL were found incidentally during the course of a neuroimaging examination. Only in the case of three patients (15%) was there any presumed relation between the location of the ICL (pericallosal), the symptomatology (overall psychomotor retardation) and the associated malformation (hypoplasia of the corpus callosum); 4) The incidence of epilepsy was much lower than that claimed in earlier reports, and the predominant associated neurological symptomatology was found to be psychomotor retardation and headache (70%); 5) ICL is a developmental anomaly that does not require neurosurgical treatment and which does not usually change with the passage of time, although it is liable to increase because of adipose hypertrophy.

[Methylphenidate and sleep: Results of a multicentre study on a population of children with attention deficit hyperactivity disorder]. / Efecto del metilfenidato sobre el sueño. Resultados de un estudio multicéntrico en una población infantil afecta de trastorno por déficit de atención e hiperactividad.

INTRODUCTION: The attention-deficit/hyperactivity disorder (ADHD) is the most common neuro-behavioural disorder in children and adolescents. Methylphenidate (MPH) is the drug most often used in the treatment of this disorder. It is important to know the effects methylphenidate can have on sleep due to the repercussions that insufficient sleep can have on the behaviour and cognitive function of children and adolescents. OBJECTIVES: The purpose of this study was to find out the repercussions that methylphenidate can have on sleep, using a questionnaire. METHODOLOGY: This is a multicentre study in which six hospitals in the Valencian Community took part. All those patients who were diagnosed with ADHD over a period of 6 months were given a questionnaire, before starting treatment, and after three months of this treatment. The questionnaire was a version of the Paediatric Sleep Questionnaire. The differences found were analysed. RESULTS: A total of 114 children were studied. Significant differences were found in the questions associated with enuresis, somnambulism and night-wakings, these sleep disorders decreasing after starting the treatment. The rest of variables did not show any changes. CONCLUSIONS: According to our results we can say that the MPH not only does not make worse the sleep, but that it improves the quality of the sleep in those patients with sleep disorders.

Efecto del metilfenidato sobre el sueño. Resultados de un estudio multicéntrico en una población infantil afecta de trastorno por déficit de atención e hiperactividad / Methylphenidate and sleep: Results of a multicentre study on a population of children with attention deficit hyperactivity disorder

Introducción: El trastorno por déficit de atención e hiperactividad es el trastorno neuroconductual más frecuente entre la población infantil. El metilfenidato (MTF) es el fármaco utilizado más habitualmente en el tratamiento de dicho trastorno. Es importante conocer los efectos que sobre el sueño puede presentar el MTF debido a la repercusión que tiene un sueño insuficiente sobre la conducta y la función cognitiva en el niño. Objetivo: El objetivo de este trabajo es conocer las repercusiones que sobre el sueño puede tener el MTF, utilizando como instrumento evaluador una encuesta. Metodología: Se trata de un estudio multicéntrico en el que han intervenido seis hospitales de la Comunidad de Valencia. Durante un período de seis meses a todos aquellos pacientes a los que se diagnosticó de trastorno por déficit de atención e hiperactividad se les pasó una encuesta antes de iniciar el tratamiento y tres meses después de iniciar dicho tratamiento. La encuesta utilizada fue una versión abreviada del Pediatric Sleep Questionnaire. Se analizaron las diferencias encontradas. Resultados: Se estudió a un total de 114 niños. Se encontraron diferencias significativas en las preguntas que se asocian con enuresis, sonambulismo y somniloquias, disminuyendo estas parasomnias tras el inicio del tratamiento. El resto de variables no experimentó ningún cambio. Conclusiones: A la luz de nuestros resultados podemos decir que el MTF no solo no empeora el sueño, sino que mejora la calidad del sueño en lo que a parasomnias se refiere (AU)

Introduction: The attention-deficit/hyperactivity disorder (ADHD) is the most common neuro-behavioural disorder in children and adolescents. Methylphenidate (MPH) is the drug most often used in the treatment of this disorder. It is important to know the effects methylphenidate can have on sleep due to the repercussions that insufficient sleep can have on the behaviour and cognitive function of children and adolescents. Objectives: The purpose of this study was to find out the repercussions that methylphenidate can have on sleep, using a questionnaire. Methodology: This is a multicentre study in which six hospitals in the Valencian Community took part. All those patients who were diagnosed with ADHD over a period of 6 months were given a questionnaire, before starting treatment, and after three months of this treatment. The questionnaire was a version of the Paediatric Sleep Questionnaire. The differences found were analysed. Results: A total of 114 children were studied. Significant differences were found in the questions associated with enuresis, somnambulism and night-wakings, these sleep disorders decreasing after starting the treatment. The rest of variables did not show any changes.Conclusions: According to our results we can say that the MPH not only does not make worse the sleep, but that it improves the quality of the sleep in those patients with sleep disorders (AU)

Dolor lumbar y de miembros inferiores con rechazo de la deambulación como modo de presentación de síndrome de Guillain-Barré / Low back and lower limb pain and refusal to walk as presenting features of Guillain-Barré syndrome

No disponible

Monosomía parcial 10p de novo / De novo partial monosomy 10p

No disponible

Variabilidad en el tratamiento de las cefaleas en las consultas de Neuropediatría de seis hospitales españoles / Variability in the treatment of headaches in visits to the neuropaediatrics service at six spanish hospitals

Introducción. La cefalea es una de las principales causasde consulta en las unidades de Neuropediatría. La variabilidad en lapráctica médica se ha definido como la variaciónes en las tasas deun procedimiento clínico. El objetivo de este trabajo es estudiar lavariabilidad en el manejo de las cefaleas infantiles entre seis hospitalesespañoles. Pacientes y métodos. Se trata de un trabajo retrospectivoen el que se incluyen aquellos pacientes que acudieron a laconsulta debido a una cefalea por primera vez durante el año 1999.La recogida de datos se realizó en diciembre de 2003. Se analizaronlas siguientes variables: tipo de cefalea, realización de neuroimagen,inicio de profilaxis, tiempo de seguimiento en consultas y número depacientes que abandonaron el seguimiento. Resultados. Se atendieron372 niños. Un 63,4% de las cefaleas se consideró migrañosa; aun 43% de los pacientes se les practicó neuroimagen y se inició profilaxisa un 36,8%. La media de seguimiento en consultas fue de 10,6meses, y el número medio de visitas fue de tres. Un 30% había abandonadoel seguimiento. En el análisis comparativo, se han encontradodiferencias significativas en todas las variables estudiadas. Conclusiones.Los resultados globales son similares a los encontrados enotras series. Las diferencias encontradas entre los centros puedeninterpretarse como debidas a las diferencias poblacionales, por losdiferentes estilos de práctica médica de los profesionales, o bien porla inexistencia de pautas claras con respecto a un determinado procedimiento

Introduction. Headache is one of the chief reasons for visiting Neuropaediatric units. Variability in clinical practicehas been defined as variations in the rates a clinical procedure is employed. The aim of this work is to study the variability inthe treatment of children’s headaches in six Spanish hospitals. Patients and methods. We conducted a retrospective studyinvolving patients who first visited because of a headache some time in the year 1999. Data were collected in December 2003.The following variables were analysed: type of headache, neuroimaging scans, beginning of prophylaxis, follow-up visits toclinic and number of patients who dropped out of the follow-up. Results. In all, 372 children were attended. 63.4% of theheadaches were considered as being migraine-type; 43% of the patients were submitted to neuroimaging and prophylaxis wasestablished in 36.8%. Mean follow-up time in the clinic was 10.6 months and the mean number of visits was 3. 30% haddropped out of the follow-up. In the comparative analysis, significant differences were found in all the variables studied.Conclusions. Overall results are similar to those found in other series. The differences found between centres can beaccounted for by differences in population, differences in health professionals’ styles of medical practice or by the inexistenceof clear guidelines regarding a particular procedure

Lipomas intracraneales en pediatría: estudio retrospectivo de 20 pacientes / Intracranial lipomas in paediatrics: a retrospective study of 20 patients

Introducción. Los lipomas intracraneales (LIC) son malformaciones congénitas que se originan por una diferenciación anómala de la meninge primitiva. Objetivo. Conocer los síntomas que se relacionan más frecuentemente con los LIC en la edad pediátrica, así como valorar si tienen relación directa con su ubicación y con su asociación a otras malformaciones cerebrales. Pacientes y métodos. Se ha realizado un estudio clinicorradiológico retrospectivo de 20 pacientes pediátricos con LIC, diagnosticados entre 1985 y 2003, en tres hospitales de la Comunidad Valenciana. Resultados. El 70 por ciento de los casos son mujeres, y la edad media cuando se diagnóstico el LIC fue de 5,3 años (intervalo, de 2 meses a 13 años). La justificación clínica inicial más frecuente del estudio neurorradiológico fue retraso psicomotor, en ocho pacientes REV NEUROL 2003; 37 (6): 515-521 (40 por ciento), y cefalea persistente de predominio migrañoso, en seis (30 por ciento). Sólo un paciente se estudió por epilepsia. La localización dominante ha sido la cisura interhemisférica, en 10 pacientes (50 por ciento), seguida de la cisterna cuadrigémina, en cinco (25 por ciento), y el eje infundibulomamilar, en tres (15 por ciento). Un caso se localizó en el cerebelo, y otro en el ventrículo lateral con extensión a la cisura coroidea. Se observaron anomalías asociadas en ocho pacientes (40 por ciento). En seis pacientes (30 por ciento) se observó una alteración en el desarrollo del cuerpo calloso, en cinco de manera aislada y en uno con ausencia parcial asociada del septo pelúcido. En otro paciente se observó una agenesia parcial aislada del septo, y en otro caso se detectó un síndrome de Goldenhar. El seguimiento radiológico, variable según la clínica inicial, no mostró diferencias en la morfología ni en el tamaño del lipoma. Conclusiones. 1) Los LIC se localizan con mayor frecuencia en la cisura interhemisférica y en la cisterna cuadrigeminal; 2) En estas localizaciones pueden asociarse a otras malformaciones cerebrales, fundamentalmente defectos callosos y septales; 3) La mayor parte de los LIC representan un hallazgo incidental de neuroimagen; sólo en tres pacientes (15 por ciento) hubo una presunta relación entre la ubicación del LIC (pericallosa), la sintomatología (retraso psicomotor global) y la malformación asociada (hipoplasia del cuerpo calloso); 4) La incidencia de epilepsia ha sido mucho más baja que la descrita previamente, y se halló como sintomatología neurológica asociada predominante el retraso psicomotor y la cefalea (70 por ciento); 5) El LIC es una anomalía malformativa que no precisa tratamiento neuroquirúrgico y que no suele modificarse con el tiempo, aunque es susceptible de aumentar por hipertrofia adiposa (AU)

Introduction. Intracranial lipomas (ICL) are congenital malformations that are due to an anomalous differentiation of the primitive meninges. Aims. The purpose of this study is to determine the most frequent symptoms related to ICL in the paediatric age, as well as to evaluate whether they are directly related to their location and to their association with other brain malformations. Patients and methods. A retrospective clinico-radiological study was conducted involving 20 paediatric patients diagnosed as suffering from ICL between 1985 and 2003 at three hospitals in the Valencian Community. Results. 70% of the cases were females and the average age when ICL was diagnosed was 5.3 years (interval from 2 months to 13 years). The most common initial clinical justification for the neuroradiological study was psychomotor retardation in eight patients (40%) and persistent, predominantly migrainous, headaches in six of them (30%). Only one patient was examined because of epilepsy. The prevailing site was the interhemispheric fissure in 10 patients (50%), followed by the quadrigeminal cistern in five (25%) and the mamillary body-infundibulum axis in three of them (15%). One case was located in the cerebellum and another was found in the lateral ventricle, with involvement of the choroid fissure. Associated anomalies were observed in eight patients (40%). Alterations were seen in the development of the corpus callosum in six patients (30%), five in an isolated way and in one case there was partial absence of the associated septum pellucidum. Another patient was found to have an isolated partial agenesis of the septum and Goldenhar syndrome was detected in another case. The radiological follow-up, which varied according to the initial clinical features, did not show any differences in the morphology or the size of the lipoma. Conclusions. 1) ICL are more frequently located in the interhemispheric fissure and in the quadrigeminal cistern; 2) In these locations they can be associated with other brain malformations, the most important being defects in the callosa and septa; 3) Most ICL were found incidentally during the course of a neuroimaging examination. Only in the case of three patients (15%) was there any presumed relation between the location of the ICL (pericallosal), the symptomatology (overall psychomotor retardation) and the associated malformation (hypoplasia of the corpus callosum); 4) The incidence of epilepsy was much lower than that claimed in earlier reports, and the predominant associated neurological symptomatology was found to be psychomotor retardation and headache (70%); 5) ICL is a developmental anomaly that does not require neurosurgical treatment and which does not usually change with the passage of time, although it is liable to increase because of adipose hypertrophy (AU)