Tratamientos agudos de recanalización en el ictus arterial isquémico pediátrico posnatal. Código ictus pediátrico / Acute recanalization treatments in postnatal paediatric ischaemic arterial strole. Paediatric stroke code

El ictus arterial isquémico infantil es una patología mucho menos conocida que en adultos debido a su menor frecuencia y a su diferente etiología. Sin embargo, es también una patología grave con una alta incidencia de secuelas severas y perennes, que sobrepasan el 50% de los casos. El manejo agudo del ictus arterial isquémico pediátrico posnatal (IAIPP) ha cambiado drásticamente en los últimos años, fundamentalmente en lo referente a los tratamientos de recanalización (trombólisis y terapias endovasculares). Estos tratamientos, que antes no se recomendaban en la edad infantil, se están afianzando cada vez más en la práctica diaria. Aunque los estudios realizados en niños no tienen un grado de evidencia alto por ser retrospectivos y porque el número de casos es bajo, soportan la idea de que dichos tratamientos son igual de seguros y eficaces que en los adultos siempre que se realicen con unos criterios de inclusión y exclusión determinados y dentro de un tiempo determinado desde el inicio de los síntomas (ventana terapéutica). En este artículo se revisa, a la luz de los conocimientos actuales, el manejo agudo del IAIPP. Debido a que la eficacia de estos tratamientos está íntimamente ligada al inicio precoz de los mismos, es necesaria la existencia de un código ictus infantil como ampliación del código ictus que se aplica a los adultos. Ha empezado a implantarse en España desde el año 2019 aunque todavía hay importantes zonas del país donde aún no se aplica. (AU)

In children, arterial ischemic stroke is a much less understood disease compared to in adults due to its lower frequency and different aetiology. However, it is also a serious disease, with a high incidence of severe and permanent sequelae that exceeds 50% of total cases. The acute management of postnatal arterial ischaemic stroke (MNAIS) has changed drastically in recent years, chiefly on account of recanalization treatments (thrombolysis and endovascular therapies). These treatments, which used to not be recommended in childhood, are increasingly implemented in everyday clinical practice. Although the evidence from studies carried out in children is not of high quality due to their retrospective design and the small number of reported cases, they support the hypothesis that these treatments are as safe and effective as they are in adults as long as appropriate eligibility criteria are applied and they are used within a certain time from the onset of symptoms (therapeutic window). This article reviews the MNAIS based on the current scientific evidence. Since the efficacy of these treatments is highly dependent on their early initiation, a paediatric stroke code needs to be in place as an extension of the stroke code applied to adults. It has started to be introduced in Spain since 2019, although there are still large areas of the country where it has yet to be applied. (AU)

Visuospatial functions in preterm schoolchildren without cognitive delay: Using Pascual's Graphomotor test as a screening method.

BACKGROUND: Preterm children obtain worse scores in tests that evaluate visuospatial functions. Pascual's graphomotor test (PGMt) assesses maturity in copying drawings in childhood, quickly evaluating the graphomotor aptitude that is a partial aspect of non-verbal intelligence. AIMS: To evaluate visuospatial functions in preterm children compared to full-term children. To assess the capacity of the Pascual graphomotor test (PGMt) to detect visuospatial disorders more specifically than non-verbal intelligence quotient (IQ). STUDY DESIGN AND SUBJECTS: case and control study. CASES: preterm children between 5 and 11 years of age without cognitive delay; controls: full-term children with the same characteristics. For each child clinical history, neurological examination, language-free intelligence test Toni 2 (IQ) and Pascual's graphomotor test (PGMt) were carried out. RESULTS: 135 children were enrolled (59 cases vs. 79 controls). The mean age was 7.4 years. 55% were male. The mean gestational age of cases was 30.5 weeks with 34% extremely preterm. Cases obtained worse mean scores in both tests. The mean IQ scores were: cases 117.4, controls 125.0 (p = 0.004). The mean graphomotor quotient (GQ) scores were statistically and clinically significant (cases 76.8; controls 98.3, p = 0.001). Although we have found a positive correlation between IQ and GQ scores (cc = 0.31 p = 0.01), the differences found in the GQ between groups have been maintained regardless of the IQ in the multivariate analysis (GQ: cases 78.3 (SD 14.8), controls 98.3 (SD 12.5), p = 0.04). CONCLUSIONS: GQ is a useful tool for screening for visuospatial anomalies. GQ more specifically measures the visuoperceptive disorder regardless of non-verbal cognitive level.

Patrón punta-onda continua en el sueño lento: nuestra experiencia durante 20 años / Continuous spike-waves during slow-wave sleep: Experience during 20 years

Introducción: La punta-onda continua durante el sueño lento (POCS) es un trazado electroencefalográfico característico, que aparece en la infancia y que en ocasiones condiciona un deterioro cognitivo. Este patrón electroencefalográfico puede aparecer tanto en determinados síndromes epilépticos como en la evolución de epilepsias idiopáticas y sintomáticas. El objetivo de nuestro estudio es analizar las características epidemiológicas y clínicas de pacientes que presentan en algún momento de su evolución POCS, describir la respuesta a distintos tratamientos y estudiar factores predictores de su evolución. Métodos: Estudio observacional retrospectivo de pacientes pediátricos con POCS seguidos en un hospital terciario en el periodo de noviembre 1997 a noviembre 2017. Resultados: Obtuvimos una muestra de 25 pacientes (68% varones). El 76% presentaba de base alteraciones en pruebas de neuroimagen o retraso psicomotor (POCS secundaria). El 24% restante eran niños sanos o con epilepsias benignas (POCS primaria). La edad media al inicio de la POCS fue de 6,7 años, siendo menor en los casos secundarios. Durante el periodo de POCS, el 72% presentó alguna manifestación clínica añadida. Todos recibieron combinaciones de antiepilépticos, siendo eficaces en el 36%. La POCS cesó en el 72%, siendo más probable el cese cuanto más tarde se hubiera instaurado. Un tercio tuvo alguna secuela, principalmente alteraciones cognitivas y del comportamiento, más frecuentes en POCS secundaria y en los pacientes en que duró más tiempo. Conclusiones: El trazado electroencefalográfico de POCS, aunque infrecuente, supone un reto terapéutico. Es importante seguir a los pacientes con epilepsia, especialmente si asocia deterioro neurológico, para detectar la presencia POCS e iniciar tratamiento precoz

Introduction: Continuous spikes and waves during slow sleep (CSWS) is an EEG pattern that appears during childhood, and is often associated with cognitive impairment. It can appear in the course of epileptic syndromes, as well as in benign epilepsy. The aim of this study is to analyse epidemiological and clinical characteristic of patients with CSWS, in order to describe possible predictive factors in their outcome. Methods: A retrospective study was conducted on paediatric patients with CSWS treated in a third-level hospital from November 1997 to November 2017. Results: The study included 25 patients (68% male), of whom 76% had abnormalities in the neuroimaging or suffered from psychomotor development disorder (secondary CSWS). The rest were healthy, or diagnosed with idiopathic epilepsy. The mean age of onset of CSWS was 6.7 years, but earlier in the secondary CSWS cases. Symptoms were present during the CSWS episode in 72% of cases. All of them were treated with antiepileptic drugs, which were effective in 36%. CSWS stopped in 72%, and remission was longer if the CSWS onset occurred at an older age. One-third (33%) presented with sequelae, mostly cognitive and behavioural alterations. Outcome was poorer in those with secondary CSWS and, in those whose CSWS started at an earlier age and lasted longer. Conclusion: The CSWS pattern, although rare, is still a therapeutic challenge. A close follow-up of the patients with epilepsy is important, especially if associated with cognitive impairment, in order to establish an early diagnosis and treatment

[Continuous spike-waves during slow-wave sleep: Experience during 20 years]. / Patrón punta-onda continua en el sueño lento: nuestra experiencia durante 20 años.

INTRODUCTION: Continuous spikes and waves during slow sleep (CSWS) is an EEG pattern that appears during childhood, and is often associated with cognitive impairment. It can appear in the course of epileptic syndromes, as well as in benign epilepsy. The aim of this study is to analyse epidemiological and clinical characteristic of patients with CSWS, in order to describe possible predictive factors in their outcome. METHODS: A retrospective study was conducted on paediatric patients with CSWS treated in a third-level hospital from November 1997 to November 2017. RESULTS: The study included 25 patients (68% male), of whom 76% had abnormalities in the neuroimaging or suffered from psychomotor development disorder (secondary CSWS). The rest were healthy, or diagnosed with idiopathic epilepsy. The mean age of onset of CSWS was 6.7 years, but earlier in the secondary CSWS cases. Symptoms were present during the CSWS episode in 72% of cases. All of them were treated with antiepileptic drugs, which were effective in 36%. CSWS stopped in 72%, and remission was longer if the CSWS onset occurred at an older age. One-third (33%) presented with sequelae, mostly cognitive and behavioural alterations. Outcome was poorer in those with secondary CSWS and, in those whose CSWS started at an earlier age and lasted longer. CONCLUSION: The CSWS pattern, although rare, is still a therapeutic challenge. A close follow-up of the patients with epilepsy is important, especially if associated with cognitive impairment, in order to establish an early diagnosis and treatment.

Calidad de vida de niños cardiópatas que han sufrido un ictus arterial isquémico / Quality of life heart-disease children who have suffered from an arterial ischemic stroke

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Outcome of arterial ischemic stroke in children with heart disease.

Arterial ischemic strokes (AIS) are rare in childhood. Congenital and acquired heart diseases are one of the most important risk factors of AIS in children. OBJECTIVE: Study the outcome of children with heart disease that have suffered AIS and the factors that influence on prognosis. PATIENTS AND METHODS: We evaluated all children with heart disease who had suffered AIS between 2000 and 2014 in our hospital. RESULTS: Seventy-four children with heart disease suffered an arterial ischemic stroke. 20% of them died and 10% had new AIS during the study period. Fifty-two patients were evaluated an average of six years after AIS. According to the Paediatric Stroke Outcome Scale (PSOM), most of the patients had some degree of impairment, mainly in sensorimotor and in cognitive-behavioural areas. The modified Rankin scale (mRS) showed an unfavourable outcome in 70% of patients (including patients that have died). Upper limb was more functionally impaired than lower limb. Strokes in neonatal period and early life were associated with poor prognosis. Size of stroke, cortical and subcortical involvement and basal ganglia stroke were associated with an unfavourable outcome. Fever in the acute phase and hemiparesis at presentation were also poor prognostic factors. Epilepsy at time of evaluation was also associated with unfavourable outcome. On the other hand, a normal electroencephalogram was associated with favourable outcome. CONCLUSIONS: AIS in children with heart disease had an unfavourable outcome, with impairment in different areas. Epilepsy happened in one third of the patients.

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.

BACKGROUND: Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50-60% and 5-8% of cases, respectively. The majority of cases are de novo heterozygous mutations. CASE PRESENTATION: Here we describe a familial RSTS case, associated with a novel EP300 mutation. The proband was a 9 years old female, with mild learning difficulties. Her mother, who also had learning difficulties, was found to have short and broad thumbs. MLPA and panel-based NGS of CREBBP and EP300 were performed. A novel heterozygous frameshift mutation in exon 31 of the EP300 gene (c.7222_7223del; p.(Gln2408Glufs*39)) was found in both. CONCLUSIONS: This case represents the first case of inherited EP300-RSTS. The location of the frameshift deletion not affecting HAT domain and PHD finger, could explain the mild phenotype and the well-preserved intelligence. These patients are mildly affected, and this case highlights the possible missed diagnosis. We would recommend molecular testing of apparently healthy parents, and in the case of inherited mutations, of all adult first degree relatives at risk.

Infección grave por Pneumocystis jirovecii en lactantes con síndrome de West tratados con hormona adrenocorticotropa intramuscular / Classification of structural lesions in magnetic resonance imaging. Surgical implications in drug-resistant epilepsy patients

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Estado epiléptico eléctrico durante el sueño: estudio retrospectivo multicéntrico de 29 casos / Electrical status epilepticus during sleep: a retrospective multi-centre study of 29 cases

Introducción. El estado epiléptico eléctrico durante el sueño (ESES) es un síndrome epiléptico caracterizado por la presencia de descargas epilépticas tipo punta-onda lenta de manera muy persistente durante el sueño no REM. En la actualidad, el manejo de esta patología es heterogéneo y no hay estudios controlados con los tratamientos utilizados, ni se ha comprobado si éstos mejoran la evolución cognitiva de los pacientes. Pacientes y métodos. Se revisan los pacientes diagnosticados de ESES durante 15 años en cuatro centros hospitalarios, se recoge la presentación clínica, el manejo terapéutico y la evolución clínica, y se compara con la bibliografía. Resultados. Se seleccionaron 29 pacientes con ESES, 20 de ellos idiopático y 26 de ellos generalizado. Los fármacos con los que se consiguió mayor control de la actividad eléctrica fueron los corticoides/hormona adrenocorticotropa (ACTH), el clobazam y el levetiracetam. La mediana de duración del ESES en los casos primarios fue de seis meses, y en los secundarios, el doble. El 45% de los pacientes mantuvo un cociente intelectual normal y un 40% presentó en la evolución discapacidad cognitiva de diferente grado. Conclusiones. El pronóstico neuropsicológico evolutivo suele ser desfavorable y la evolución cognitiva parece estar en relación con la duración del ESES y el área donde esté concentrada la actividad epiléptica, lo que sugiere que el mal pronóstico, si se trata precozmente, se puede evitar. Los antiepilépticos más frecuentemente utilizados son el ácido valproico, la etosuximida y el levetiracetam, y en nuestra muestra también se utilizaron con frecuencia el clobazam y la lamotrigina. Los fármacos más eficaces para el control del ESES fueron los corticoides/ACTH, el clobazam y el levetiracetam (AU)

Introduction. Electrical status epilepticus during sleep (ESES) is an epileptic syndrome characterised by the presence of very persistent slow spike-wave-type epileptic discharges during non-REM sleep. The management of this pathology, today, is heterogeneous and no controlled studies have been conducted with the treatments employed; similarly, whether or not they improve patients’ cognitive development or not has still to be determined. atients and methods. A review was carried out of the patients diagnosed with ESES at four hospitals over a period of 15 years; data concerning their clinical presentation, therapeutic management and clinical course were collected and compared with the literature. Results. Altogether 29 patients with ESES were detected, 20 of them idiopathic and 26 generalised. The drugs with which the greatest control of the electrical activity was achieved were corticoids/adrenocorticotropic hormone (ACTH), clobazam and levetiracetam. In the primary cases ESES lasted an average of six months and the duration was twice that time in the secondary cases. Findings showed that the intelligence quotient remained normal in 45% of patients and 40% presented differing degrees of cognitive disability in the course of the pathology. Conclusions. The developmental neuropsychological prognosis is usually unfavourable and the cognitive development seems to be related with the duration of ESES and the area where the epileptic activity is concentrated, which suggests that the poor prognosis can be avoided if treatment is established at an early stage. The antiepileptic drugs that are most commonly used are valproic acid, ethosuximide and levetiracetam, and in our milieu clobazam and lamotrigine were commonly employed. The most effective drugs for controlling ESES were corticoids/ACTH, clobazam and levetiracetam (AU)

[Electrical status epilepticus during sleep: a retrospective multi-centre study of 29 cases]. / Estado epiléptico eléctrico durante el sueño: estudio retrospectivo multicéntrico de 29 casos.

INTRODUCTION: Electrical status epilepticus during sleep (ESES) is an epileptic syndrome characterised by the presence of very persistent slow spike-wave-type epileptic discharges during non-REM sleep. The management of this pathology, today, is heterogeneous and no controlled studies have been conducted with the treatments employed; similarly, whether or not they improve patients' cognitive development or not has still to be determined. PATIENTS AND METHODS: A review was carried out of the patients diagnosed with ESES at four hospitals over a period of 15 years; data concerning their clinical presentation, therapeutic management and clinical course were collected and compared with the literature. RESULTS: Altogether 29 patients with ESES were detected, 20 of them idiopathic and 26 generalised. The drugs with which the greatest control of the electrical activity was achieved were corticoids/adrenocorticotropic hormone (ACTH), clobazam and levetiracetam. In the primary cases ESES lasted an average of six months and the duration was twice that time in the secondary cases. Findings showed that the intelligence quotient remained normal in 45% of patients and 40% presented differing degrees of cognitive disability in the course of the pathology. CONCLUSIONS: The developmental neuropsychological prognosis is usually unfavourable and the cognitive development seems to be related with the duration of ESES and the area where the epileptic activity is concentrated, which suggests that the poor prognosis can be avoided if treatment is established at an early stage. The antiepileptic drugs that are most commonly used are valproic acid, ethosuximide and levetiracetam, and in our milieu clobazam and lamotrigine were commonly employed. The most effective drugs for controlling ESES were corticoids/ACTH, clobazam and levetiracetam.

TITLE: Estado epileptico electrico durante el sueño: estudio retrospectivo multicentrico de 29 casos.Introduccion. El estado epileptico electrico durante el sueño (ESES) es un sindrome epileptico caracterizado por la presencia de descargas epilepticas tipo punta-onda lenta de manera muy persistente durante el sueño no REM. En la actualidad, el manejo de esta patologia es heterogeneo y no hay estudios controlados con los tratamientos utilizados, ni se ha comprobado si estos mejoran la evolucion cognitiva de los pacientes. Pacientes y metodos. Se revisan los pacientes diagnosticados de ESES durante 15 años en cuatro centros hospitalarios, se recoge la presentacion clinica, el manejo terapeutico y la evolucion clinica, y se compara con la bibliografia. Resultados. Se seleccionaron 29 pacientes con ESES, 20 de ellos idiopatico y 26 de ellos generalizado. Los farmacos con los que se consiguio mayor control de la actividad electrica fueron los corticoides/hormona adrenocorticotropa (ACTH), el clobazam y el levetiracetam. La mediana de duracion del ESES en los casos primarios fue de seis meses, y en los secundarios, el doble. El 45% de los pacientes mantuvo un cociente intelectual normal y un 40% presento en la evolucion discapacidad cognitiva de diferente grado. Conclusiones. El pronostico neuropsicologico evolutivo suele ser desfavorable y la evolucion cognitiva parece estar en relacion con la duracion del ESES y el area donde este concentrada la actividad epileptica, lo que sugiere que el mal pronostico, si se trata precozmente, se puede evitar. Los antiepilepticos mas frecuentemente utilizados son el acido valproico, la etosuximida y el levetiracetam, y en nuestra muestra tambien se utilizaron con frecuencia el clobazam y la lamotrigina. Los farmacos mas eficaces para el control del ESES fueron los corticoides/ACTH, el clobazam y el levetiracetam.

Funciones visuoespaciales y prematuridad / Visuospatial functions and prematurity

Durante la infancia, las funciones visuoespaciales son importantes en los procesos de aprendizaje y en el desarrollo del pensamiento abstracto. Diferentes estudios muestran que los niños prematuros o con bajo peso al nacer obtienen menores puntuaciones en los tests que valoran las funciones cognitivas, siendo estas diferencias más pronunciadas durante el primer año de vida. Con el tiempo, estas diferencias se van atenuando, pero persiste un retraso madurativo que afecta a la memoria de trabajo y a los procesos visuoespaciales. No está claro cuáles son los factores implicados en el desarrollo de estas funciones y qué factores pre o perinatales pueden interferir en su buen desarrollo, pero se han descrito diferencias anatómicas y fisiológicas entre el cerebro del niño pretérmino y el término que podrían explicar, en parte, alguna de estas alteraciones. La diferente vulnerabilidad selectiva a la hipoxia entre el cerebro inmaduro, en el que predominan las neuronas de la subplaca y los preoligodendrocitos, y el cerebro maduro del niño nacido a término determinan diferencias en el patrón de lesión por hipoxia con mayor afectación de la sustancia blanca periventricular en el niño pretérmino. Este patrón lesional conlleva una disfunción en los procesos atencionales y visuoespaciales debido a la mayor vulnerabilidad de las regiones que intervienen en la ruta dorsal del procesamiento visual (AU)

Visuospatial functions are very important in learning process and development of abstract thought during childhood. Several studies show that preterm and low birth weight infants obtain lower scores in test that assess cognitive functions, specially in the first year of life. These differences are attenuated over time, but a developmental delay that affects working memory and visuospatial process still persists. It is unclear what factors are involved in development of these functions, and pre- or perinatal factors may interfere with the proper conduct of the same, but have been described anatomical and physiological differences between the preterm and term brain that could explain somewhere in these alterations. The different selective vulnerability to hypoxia between immature brain in which preoligodendrocytes and subplate neurons predominate, and mature brain, determine differences in the pattern of injury from hypoxia with greater involvement of the periventricular white matter in preterm children. This lesional pattern leaves to a dysfunction in attentional and visuospatial process, due to the increased vulnerability of the regions involved in the dorsal pathway of visual processing (AU)

Utilidad de la resonancia magnética muscular en el diagnóstico diferencial de las distrofias musculares / The value of muscular magnetic resonance imaging in the differential diagnosis of muscular dystrophies

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Acute hemicerebellitis in children: case report and review of literature.

Acute hemicerebellitis in childhood is an extremely rare unilateral presentation of cerebellitis mimicking a tumour. Its aetiology is unknown, although an inflammatory or postinfectious origin is presumed. Its clinical outcome is generally good and a self-limited evolution, in the absence of specific treatment, is usually expected. MRI findings can be misunderstood leading to erroneous diagnosis and invasive treatments. Clinical improvement and regression of the pathological findings in serial MRI will help differentiate acute hemicerebellitis from a neoplastic process. Surgical procedures should be performed only in case of clinical deterioration. We present a case of pseudotumoral hemicerebellitis in an eight-year-old girl, presenting with severe headache. This paper provides a review on hemicerebellitis and highlights the clinical, diagnostic, therapeutic features and outcome of this entity.