Three-year incidence and acute setting predictors of epilepsy after neonatal and childhood arterial ischaemic stroke: a disease-based cohort study.

To assess the association between clinical and MRI characteristics of arterial ischaemic stroke (AIS) and the 3-year risk of post-stroke epilepsy (PSE) in paediatric patients. Retrospective cohort study. Database from a single tertiary referral centre for paediatric stroke in Chile. Two hundred seven neonates and children (1 day to 18 years) with a first-ever supratentorial AIS diagnosed between January 2003 and December 2019 were evaluated. Diagnosis of PSE and explanatory variables were consecutively recorded from hospital inpatient and annual outpatient records in a predesigned database. Competing risk analysis (competing events: death and loss to follow-up) of multiple Cox proportional hazards regression was performed to estimate adjusted subhazard ratios (SHRs) of PSE. Confidence intervals (95% CI) were calculated using bootstrap resampling (1000 replications). Interaction terms were added to investigate moderating effects. The 3-year incidence rate of PSE was 166.5 per 1000 person-years (neonatal: 150.1; childhood: 173.9). The 3-year cumulative incidence was 33%. Patients with acute symptomatic non-status seizures (SHR = 3.13; 95% CI = 1.43-6.82), status epilepticus (SHR = 5.16; 95% CI = 1.90-13.96), abnormal discharge neurological status (SHR = 2.52; 95% CI = 1.12-5.63), cortical lesions (SHR = 2.93; 95% CI = 1.48-5.81), and multifocal infarcts with stroke size < 5% of supratentorial brain volume (SHR = 3.49; 95% CI = 1.44-8.46) had a higher risk of PSE. CONCLUSION: This study identified specific and reliable acute clinical and imaging predictors of PSE in paediatric patients, helping clinicians identify high-risk patients with potential implications for treatment decisions. WHAT IS KNOWN: • Numerous risk factors have been proposed for post-stroke epilepsy, but there is a lack of studies evaluating these variables while accounting for confounding factors and competing risks over time. WHAT IS NEW: • After adjustment for competing events, acute symptomatic seizures, both non-status and status epilepticus, abnormal mental status or motor neurological examination at hospital discharge, cortical involvement, and multifocal ischaemic lesions in small strokes are all independent predictors of post-stroke epilepsy. • Knowing the predictors of post-stroke epilepsy is essential for clinicians to make well-informed and effective decisions about treatment.

International Prevalence and Mechanisms of SARS-CoV-2 in Childhood Arterial Ischemic Stroke During the COVID-19 Pandemic.

BACKGROUND: Data from the early pandemic revealed that 0.62% of children hospitalized with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) had an acute arterial ischemic stroke (AIS). In a larger cohort from June 2020 to December 2020, we sought to determine whether our initial point estimate was stable as the pandemic continued and to understand radiographic and laboratory data that may clarify mechanisms of pediatric AIS in the setting of SARS-CoV-2. METHODS: We surveyed international sites with pediatric stroke expertise to determine numbers of hospitalized SARS-CoV-2 patients <18 years, numbers of incident AIS cases among children (29 days to <18 years), frequency of SARS-CoV-2 testing for children with AIS, and numbers of childhood AIS cases positive for SARS-CoV-2 June 1 to December 31, 2020. Two stroke neurologists with 1 neuroradiologist determined whether SARS-CoV-2 was the main stroke risk factor, contributory, or incidental. RESULTS: Sixty-one centers from 21 countries provided AIS data. Forty-eight centers (78.7%) provided SARS-CoV-2 hospitalization data. SARS-CoV-2 testing was performed in 335/373 acute AIS cases (89.8%) compared with 99/166 (59.6%) in March to May 2020, P<0.0001. Twenty-three of 335 AIS cases tested (6.9%) were positive for SARS-CoV-2 compared with 6/99 tested (6.1%) in March to May 2020, P=0.78. Of the 22 of 23 AIS cases with SARS-CoV-2 in whom we could collect additional data, SARS-CoV-2 was the main stroke risk factor in 6 (3 with arteritis/vasculitis, 3 with focal cerebral arteriopathy), a contributory factor in 13, and incidental in 3. Elevated inflammatory markers were common, occurring in 17 (77.3%). From centers with SARS-CoV-2 hospitalization data, of 7231 pediatric patients hospitalized with SARS-CoV-2, 23 had AIS (0.32%) compared with 6/971 (0.62%) from March to May 2020, P=0.14. CONCLUSIONS: The risk of AIS among children hospitalized with SARS-CoV-2 appeared stable compared with our earlier estimate. Among children in whom SARS-CoV-2 was considered the main stroke risk factor, inflammatory arteriopathies were the stroke mechanism.

Pediatric Ischemic Stroke: An Infrequent Complication of SARS-CoV-2.

OBJECTIVE: Severe complications of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) include arterial ischemic stroke (AIS) in adults and multisystem inflammatory syndrome in children. Whether stroke is a frequent complication of pediatric SARS-CoV-2 is unknown. This study aimed to determine the proportion of pediatric SARS-CoV-2 cases with ischemic stroke and the proportion of incident pediatric strokes with SARS-CoV-2 in the first 3 months of the pandemic in an international cohort. METHODS: We surveyed 61 international sites with pediatric stroke expertise. Survey questions included: numbers of hospitalized pediatric (≤ 18 years) patients with SARS-CoV-2; numbers of incident neonatal and childhood ischemic strokes; frequency of SARS-CoV-2 testing for pediatric patients with stroke; and numbers of stroke cases positive for SARS-CoV-2 from March 1 to May 31, 2020. RESULTS: Of 42 centers with SARS-CoV-2 hospitalization numbers, 8 of 971 (0.82%) pediatric patients with SARS-CoV-2 had ischemic strokes. Proportions of stroke cases positive for SARS-CoV-2 from March to May 2020 were: 1 of 108 with neonatal AIS (0.9%), 0 of 33 with neonatal cerebral sinovenous thrombosis (CSVT; 0%), 6 of 166 with childhood AIS (3.6%), and 1 of 54 with childhood CSVT (1.9%). However, only 30.5% of neonates and 60% of children with strokes were tested for SARS-CoV-2. Therefore, these proportions represent 2.9, 0, 6.1, and 3.0% of stroke cases tested for SARS-CoV-2. Seven of 8 patients with SARS-CoV-2 had additional established stroke risk factors. INTERPRETATION: As in adults, pediatric stroke is an infrequent complication of SARS-CoV-2, and SARS-CoV-2 was detected in only 4.6% of pediatric patients with ischemic stroke tested for the virus. However, < 50% of strokes were tested. To understand the role of SARS-CoV-2 in pediatric stroke better, SARS-CoV-2 testing should be considered in pediatric patients with stroke as the pandemic continues. ANN NEUROL 2021;89:657-665.

Autism spectrum disorder: Clinical diagnosis and ADOS Test. / Trastorno del espectro autista: Diagnóstico clínico y test ADOS.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a neurobiological disorder of high prevalence, whose clinical diagnosis is a constant challenge. OBJECTIVES: To describe the clinical profile in a co hort of children with ASD from referral to the specialist to a diagnostic test. PATIENTS AND METHOD: Descriptive study from the first symptoms perceived by the mother to the diagnostic confirmation of a series of 50 consecutive cases, which were clinically diagnosed with ASD between 2012 and 2016. Children aged between 3 to 10 years at the time of the ADOS-G test and language of at least one word were included. The children were evaluated neuropsychologically (functionality, intellectuality and ADOS test). We compared the median age to the neurological diagnosis, according to the autistic symptomatology and cognitive level. RESULTS: The ADOS test corroborated an ASD in 44 children (88%), 93.1% were males. The average age at clinical diagnosis and ADOS test was 48.2 ± 19.3 and 62.6 ± 23.3 months. The neurological consultation in 72% of cases was parental/educator initiative due to symptoms such as social interaction disorder and language delay. The autistic symptomato logy was mild, moderate and severe in 34.1, 47.7 and 18.2% respectively. In five of 27 children who were neuropsychologically evaluated cognitive deficits were detected. The median age at diagnosis was significantly lower in children with severe autism symptoms vs the ones with mild-moderate symptoms (p-value 0.024). CONCLUSION: Autistic symptoms determine the early consultation; the refore, it is necessary to guide the general and educational population as well as health professionals regarding these symptoms.

Trastorno del espectro autista: diagnóstico clínico y test ADOS / Autism spectrum disorder: clinical diagnosis and ADOS Test

INTRODUCCIÓN: El trastorno del espectro autista (TEA) es un desorden neurobiológico altamente prevalente, cuyo diagnóstico clínico es un desafío constante. OBJETIVOS: Describir el perfil clínico, en una cohorte de niños con TEA desde su derivación al especialista hasta la realización de un test diagnóstico. PACIENTES Y MÉTODO: Estudio descriptivo desde los primeros síntomas pesquisados por la madre, hasta la certificación diagnóstica de una serie de 50 niños, diagnosticados clínicamente con TEA entre 2012-2016. Se incluyeron niños de 3 a 10 años al momento del Test ADOS-G, con lenguaje de al menos una palabra. Los niños fueron evaluados neuropsicológicamente (funcionali dad, intelectualidad y test ADOS). Comparamos las medianas de edad al diagnóstico neurológico, según carga de sintomatología autista y nivel cognitivo. RESULTADOS: El test ADOS corroboró un TEA en 44 niños (88%), 93,1% eran varones. La edad promedio al diagnóstico clínico y test ADOS fue 48,2 ± 18,3 y 62,6 ± 23,3 meses. La consulta neurológica en el 72% de los casos fue motivación parental/educador por síntomas como trastorno interacción social y retraso de lenguaje. El 34,1; 47,7 y 18,2% tenían sintomatología autista leve, moderada y severa respectivamente. En 5 de 27 ni ños en los que se realizó la evaluación neuropsicológica se detectó déficit cognitivo. La mediana de edad al diagnóstico fue significativamente menor en niños con sintomatología autista grave vs leve- moderada (p 0,024). CONCLUSIÓN: La sintomatología autista determina la precocidad de consulta, por lo que es necesario orientar a la población general, educadores y personal de salud, respecto a estos síntomas.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a neurobiological disorder of high prevalence, whose clinical diagnosis is a constant challenge. OBJECTIVES: To describe the clinical profile in a co hort of children with ASD from referral to the specialist to a diagnostic test. PATIENTS AND METHOD: Descriptive study from the first symptoms perceived by the mother to the diagnostic confirmation of a series of 50 consecutive cases, which were clinically diagnosed with ASD between 2012 and 2016. Children aged between 3 to 10 years at the time of the ADOS-G test and language of at least one word were included. The children were evaluated neuropsychologically (functionality, intellectuality and ADOS test). We compared the median age to the neurological diagnosis, according to the autistic symptomatology and cognitive level. RESULTS: The ADOS test corroborated an ASD in 44 children (88%), 93.1% were males. The average age at clinical diagnosis and ADOS test was 48.2 ± 19.3 and 62.6 ± 23.3 months. The neurological consultation in 72% of cases was parental/educator initiative due to symptoms such as social interaction disorder and language delay. The autistic symptomato logy was mild, moderate and severe in 34.1, 47.7 and 18.2% respectively. In five of 27 children who were neuropsychologically evaluated cognitive deficits were detected. The median age at diagnosis was significantly lower in children with severe autism symptoms vs the ones with mild-moderate symptoms (p-value 0.024). CONCLUSION: Autistic symptoms determine the early consultation; the refore, it is necessary to guide the general and educational population as well as health professionals regarding these symptoms.

Risk factors for in-hospital and follow-up mortality after childhood arterial ischemic stroke.

OBJECTIVES: To explore risk factors contributing to 30-day and long-term survival in children with a first episode of arterial ischemic stroke (AIS). STUDY DESIGN: Single center prospective observational study including 119 children aged between 30 days and 18 years, with a first episode of AIS between 2003 and 2015. Diagnosis was confirmed with magnetic resonance images. Outcomes included 30-day mortality and survival up to 8 years of follow-up. Demographic (e.g., gender, age), clinical (e.g., stroke severity measured by the Pediatric National Institute of Health Stroke Scale (NIHSS), clinical presentation, underlying conditions), radiological (e.g., involved circulation, location), and stroke recurrence data, were used to predict outcomes. Data analyses included logistic and Cox regression multivariate models with Firth's bias correction. RESULTS: 30-day mortality was 11.7% (n = 14). A total of 23 (19.3%) children died during the follow-up. 30-day mortality was only predicted by stroke severity (OR = 1.11, 95% CI = 1.02-1.26) in children > 2 years. Survival was predicted by stroke severity (HR = 1.05, 95% CI = 1.01-1.09), congenital heart disease (HR = 3.62, 95% CI = 1.33-10.93), prothrombotic states (HR = 3.51, 95% CI = 1.25-9.32), and anterior plus posterior circulation stroke (HR = 2.43, 95% CI = 1.42-4.61, p 0.026). Stroke recurrence (n= 23; 19.3%) was not a significant predictor of follow-up mortality. CONCLUSIONS: This study identified groups with greater acute and long-term mortality after a first episode of AIS in childhood. Specific interventions focused on these risk groups may decrease mortality rates. Further studies need to confirm our findings by adding children from other centers.

Clinical and radiological risk factors for poststroke epilepsy in childhood.

BACKGROUND: There are few studies evaluating risk factors for poststroke epilepsy (PSE) after an arterial ischemic stroke (AIS) in childhood. This study aimed to evaluate clinical and radiological predictors for PSE in a cohort of children with a first-ever AIS. METHODS: A retrospective analysis of a single-center prospective consecutive cohort of children beyond neonatal age with a first-ever AIS admitted at the Pontifical Catholic University of Chile's Clinical Hospital between 2003 and 2013. All participants had a brain magnetic resonance imaging at the time of diagnosis. All children underwent follow-up for at least three years with an annual clinical evaluation. We used the current epilepsy definition of the International League Against Epilepsy. Studied variables include demographics, clinical manifestations at onset, stroke risk factors, and radiological characteristics of AIS. Cox proportional hazards regression analysis was used to evaluate PSE risk adjusted for clinical and radiological variables. RESULTS: Among 98 children who met the study criteria, 41 (41.8%) with PSE. Following multivariate analysis, it was determined that the predictors of PSE include young age at AIS (hazard ratio [HR] = 0.91; confidence interval [CI] = 0.84-0.99), the occurrence of acute symptomatic seizures (HR = 3.29; CI = 1.35-8.01), cortical infarction (HR = 5.01; CI = 2.00-12.6), and multifocal infarction (HR = 3.27; CI = 1.01-10.8). CONCLUSION: Seizures, young age, cortical lesions, and multiple infarction at the time of stroke are independent risk factors for PSE in children following a first-ever AIS.

Frecuencia y determinantes de epilepsia luego de un primer ictus isquémico arterial en una cohorte de niños / Frequency and risk factors for the development of epilepsy after an arterial ischemic stroke in a children's cohort

Existen pocos estudios evaluando los factores de riesgo para el desarrollo de epilepsia posterior a un ictus isquémico arterial (IIA) en la infancia. Objetivo: Evaluar los predictores clínicos y radiológicos para epilepsia post-ictus (EPI) en una cohorte de niños chilenos con un primer IIA. Metodología: Estudio analítico longitudinal observacional prospectivo de una cohorte de niños con diagnóstico de IIA entre 1 mes y 18 años, enrolados de forma consecutiva en la base de datos de Patología Cerebrovascular del Hospital Clínico de la Pontificia Universidad Católica de Chile entre los años 2003 y 2013. Todos los participantes con imágenes por resonancia magnética encefálica al momento del diagnóstico. Las variables estudiadas incluyeron características clínicas y radiológicas del evento agudo asociadas a EPI según estudios previos. Creamos un modelo multivariado por regresión logística para estimar los Odds Ratios (ORs) y sus respectivos intervalos de confianza al 95% (ICs) de cada variable estudiada para EPI (significancia <0,05). Resultados: De 81 niños reclutados, 41 (50,6%) con EPI. El análisis multivariado determinó que los predictores independientes de EPI incluyen edad menor al momento del IIA (OR=0,81; IC=0,69-0,95), ocurrencia de crisis sintomáticas agudas (OR=8,63; IC=2,03-36,7), infarto cortical (OR=17,2; IC=3,12-95,3) y arteriopatías del sistema nervioso central (OR=12; IC=1,47-97,8). Conclusiones: las crisis agudas, menor edad, infarto cortical y arteriopatías son factores de riesgo independientes para EPI en niños con un primer IIA. Palabras clave: accidente vascular encefálico pediátrico; epilepsia postictal, ictus isquémico, arteriopatía, infarto cortical.

Abstract. There are few studies evaluating the risk factors for the development of epilepsy after an arterial ischemic stroke (IIA) in childhood. Objective: To assess the clinical and radiological predictors for epilepsy post-stroke (EPI) in a cohort of Chilean children with a first IIA. Methodology: prospective observational longitudinal analytical study of a cohort of children with a IIA diagnosis, from 1 month to 18 years old, consecutively enrolled in the brain stroke database of the Hospital of the Pontificia Universidad Católica de Chile between 2003 and 2013. All participants had a brain magnetic resonance performed at the time of the diagnosis. The variables studied included clinical and radiological features of the acute event associated to EPI according to previous studies. We created a multivariate logistic regression model to estimate the Odds Ratios (ORs) and their respective intervals of confidence 95% (ICs) of each variable studied for EPI (significance < 0,05). Results: of 81 children recruited, 41 (50.6%) had EPI. The multivariate analysis determined that the independent predictors of PPE include: younger age at the time of the IIA (OR = 0. 81; IC = 0, 69-0, 95), occurrence of acute symptomatic crisis (OR = 8, 63; IC = 2, 03-36, 7), cortical infarction (OR = 17, 2; IC = 3, 12-95, 3) and arteriopathies of the central nervous system (OR = 12; IC = 1, 47-97, 8). Conclusions: acute crises, younger age, cortical infarction and arterial disease are independent risk factors for EPI in children with a first IIA.Key words: Pediatric brain vascular accident; epilepsy postictal, ischemic stroke, arterial disease, cortical infarction

Oral self-mutilation in Lesch-Nyhan Syndrome. Case Report. / Síndrome de Lesch-Nyhan y automutilación oral. Reporte de un caso.

INTRODUCTION: Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by the deficiency of the enzyme hypoxanthin-guanine phosphorribosyl transferase (HPRT). Compul sive self-mutilation and dystonia occurs before the first year of age and is expressed by persistent bites on the oral mucosa, lips, tongue, fingers, and shoulders. The dental intervention performed on most of these patients is multiple tooth extraction to prevent serious secondary lesions. OBJECTIVE: To present a clinical case of LNS and describe pediatric dentistry management in patients with self-mutilating behavior. CLINICAL CASE: Male patient, 7 years old, LNS carrier. He was referred to the Dental Unit from the Department of Pediatric Neurology for evaluation and management of self-inflicted wounds on fingers, lips and cheeks associated with weight loss and decreased food intake. The surgical procedure consisted of multiple extractions, surgical remodeling of the residual alveolar ridges under general anesthesia. In the second postoperative month, the patient was discharged definitively, with an adequate nutritional status and no signs of self-mutilation in hands or oral cavity. CONCLUSIONS: Although LNS is rare, it is essential to know how to proceed in order to provide the best quality of life for patients and their families. Early tooth extractions, as an initial phase in severe cases, seem to be the most useful alternative to minimize damage.

Síndrome de Lesch-Nyhan y automutilación oral. Reporte de un caso / Oral self-mutilation in Lesch-Nyhan Syndrome. Case Report

Resumen: Introducción: El síndrome de Lesch-Nyhan (SLN) es un trastorno hereditario recesivo relacionado con el cromosoma X, causado por la deficiencia de la enzima hipoxantina-guanina fosforribosil transferasa (HPRT). La automutilación compulsiva y distonía ocurre antes del año de edad y se expresa con mordeduras persistentes en la mucosa oral, labios, lengua, dedos y hombros. La intervención odontológica realizada en la mayoría de estos pacientes es la extracción dental múltiple para prevenir lesiones graves secundarias. Objetivo: presentar un caso clínico de SLN y describir el manejo odonto-pediátrico en pacientes con conducta automutilatoria. Caso clínico: Paciente varón, 7 años de edad, portador de SLN. Fue referido a la Unidad de Odontología desde el Departamento de Neurología Pediátrica para la evaluación y manejo de heridas autoinfligidas en dedos, labios y mejillas asociadas a una pérdida de peso y disminución de la ingesta de alimentos. El procedimiento quirúrgico consistió en extracciones dentales múltiples, y remodelación quirúrgica de las crestas alveolares residuales, bajo anestesia general. Al segundo mes posquirúrgico el paciente fue dado de alta definitivamente, con un adecuado estado nutricional y sin signos de automutilación en manos ni en cavidad oral. Conclusio nes: A pesar, que el SLN es infrecuente, es esencial saber cómo proceder para dar la mejor calidad de vida a los pacientes y sus familias. Las extracciones tempranas del diente, como fase inicial en casos severos, parecen ser la alternativa más útil para minimizar el daño y el dolor por la automutilación.

Abstract: Introduction: Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by the deficiency of the enzyme hypoxanthin-guanine phosphorribosyl transferase (HPRT). Compul sive self-mutilation and dystonia occurs before the first year of age and is expressed by persistent bites on the oral mucosa, lips, tongue, fingers, and shoulders. The dental intervention performed on most of these patients is multiple tooth extraction to prevent serious secondary lesions. Objective: To present a clinical case of LNS and describe pediatric dentistry management in patients with self-mutilating behavior. Clinical case: Male patient, 7 years old, LNS carrier. He was referred to the Dental Unit from the Department of Pediatric Neurology for evaluation and management of self-inflicted wounds on fingers, lips and cheeks associated with weight loss and decreased food intake. The surgical procedure consisted of multiple extractions, surgical remodeling of the residual alveolar ridges under general anesthesia. In the second postoperative month, the patient was discharged definitively, with an adequate nutritional status and no signs of self-mutilation in hands or oral cavity. Conclusions: Although LNS is rare, it is essential to know how to proceed in order to provide the best quality of life for patients and their families. Early tooth extractions, as an initial phase in severe cases, seem to be the most useful alternative to minimize damage.

Could infarct location predict the long-term functional outcome in childhood arterial ischemic stroke?

OBJECTIVE: To explore the influence of infarct location on long-term functional outcome following a first-ever arterial ischemic stroke (AIS) in non-neonate children. METHOD: The MRIs of 39 children with AIS (median age 5.38 years; 36% girls; mean follow-up time 5.87 years) were prospectively evaluated. Infarct location was classified as the absence or presence of subcortical involvement. Functional outcome was measured using the modified Rankin scale (mRS) for children after the follow-up assessment. We utilized multivariate logistic regression models to estimate the odds ratios (ORs) for the outcome while adjusting for age, sex, infarct size and middle cerebral artery territory involvement (significance < 0.05). RESULTS: Both infarcts ≥ 4% of total brain volume (OR 9.92; CI 1.76 - 55.9; p 0.009) and the presence of subcortical involvement (OR 8.36; CI 1.76 - 53.6; p 0.025) independently increased the risk of marked functional impairment (mRS 3 to 5). CONCLUSION: Infarct extension and location can help predict the extent of disability after childhood AIS.

Could infarct location predict the long-term functional outcome in childhood arterial ischemic stroke? / ¿Puede la localización del infarto predecir el resultado funcional a largo plazo en el ictus isquémico arterial pediátrico?

ABSTRACT Objective: To explore the influence of infarct location on long-term functional outcome following a first-ever arterial ischemic stroke (AIS) in non-neonate children. Method: The MRIs of 39 children with AIS (median age 5.38 years; 36% girls; mean follow-up time 5.87 years) were prospectively evaluated. Infarct location was classified as the absence or presence of subcortical involvement. Functional outcome was measured using the modified Rankin scale (mRS) for children after the follow-up assessment. We utilized multivariate logistic regression models to estimate the odds ratios (ORs) for the outcome while adjusting for age, sex, infarct size and middle cerebral artery territory involvement (significance < 0.05). Results: Both infarcts ≥ 4% of total brain volume (OR 9.92; CI 1.76 - 55.9; p 0.009) and the presence of subcortical involvement (OR 8.36; CI 1.76 - 53.6; p 0.025) independently increased the risk of marked functional impairment (mRS 3 to 5). Conclusion: Infarct extension and location can help predict the extent of disability after childhood AIS.

RESUMEN Objetivo: Para explorar la influencia de la localización del infarto sobre los resultados funcionales a largo plazo después de un primer ictus isquémico arterial (IIA) en ninos posterior a la edad neonatal. Métodos: Se evaluaron de forma prospectiva imágenes por RM de 39 ninos con IIA (mediana de edad: 5,38 años; 36% ninas; seguimiento promedio: 5,87 anos). La localización del infarto fue clasificada como ausencia o presencia de compromiso subcortical. El resultado funcional fue medido utilizando la escala modificada de Rankin (mRS) para ninos en una evaluación al final del seguimiento. Utilizamos modelos de regresión logística multivariada para estimar los odds ratios (ORs) para el resultado ajustado para la edad, sexo, tamaño del infarto y compromiso del territorio vascular de la arteria cerebral media (significancia < 0,05). Resultados: Tanto el tamaño del infarto > 4% del volumen encefálico total (OR 9,92; IC 1,76-55,9; p 0,009) como la presencia de compromiso subcortical (OR 8,36; IC 1,76-53,6; p 0,025) incrementaron independientemente el riesgo de presentar marcado compromiso funcional (mRS 3 a 5). Conclusión: La extensión y localización del infarto pueden ayudar a predecir la magnitud de la discapacidad posterior a un IIA durante la niñez.

Prevalence and Predictors of Long-Term Functional Impairment, Epilepsy, Mortality, and Stroke Recurrence after Childhood Stroke: A Prospective Study of a Chilean Cohort.

BACKGROUND: To evaluate the prevalence and predictors of long-term impairment, epilepsy, mortality, and recurrences after the first stroke in a cohort of Chilean children. METHODS: A prospective study involving 98 children who suffered a first stroke and underwent follow-up for at least 3 years in a single center. Functional outcome was measured using the modified Rankin Scale for children. We utilized multivariate logistic regression models to estimate the odds ratios (ORs) for outcomes while adjusting for age, sex, and underlying conditions (significance <.05). RESULTS: Stroke recurrences were present in 18 children and were strongly associated with arteriopathies (OR 8.11; CI 1.5-43). Of 26 children who died during the follow-up period, a significant proportion had a cardiopathy (OR 6.57; CI 1.3-32) or a chronic head and neck disease (OR 41.3; CI 3.5-490). Among 72 survivors (median age 1.49 years; 38 girls; mean follow-up time 4.85 years), 28 presented marked impairment; these children were younger (P = .019) and had more commonly arteriopathies (OR 9.33; CI 1.7-51) and epilepsy (OR 10.5; CI 3.1-36) as compared to survivors without disabilities. Cumulative epilepsy prevalence was 55.6%; children with epilepsy were younger (P = .037) and had more commonly acute symptomatic seizures (OR 12.16; CI 2.93-50.4) as compared to survivors without epilepsy. CONCLUSIONS: The prevalence of long-term adverse outcomes after childhood stroke is high and does not differ from other geographical and racial groups. Younger age, acute seizures, and arteriopathies but not sex and other underlying conditions predict adverse outcome following childhood stroke.

Eventos paroxísticos no epilépticos: Cómo reconocerlos y diagnosticarlos / Non-epileptic paroxismal events: how to recognize and make a diagnosis?

Los eventos paroxísticos no epilépticos (EPNE) son una causa frecuente de consulta en pediatría. Constituyen un grupo de movimientos o conductas abruptas, recurrentes y estereotipadas que comprometen la función cerebral con recuperación espontánea a la normalidad. Se revisan las principales maneras de reconocerlos y diagnosticarlos. Palabras Claves: eventos paroxísticos, movimientos anormales, distonía, temblores.

Non-epileptic paroxysmal events (EPNE) are a frequent cause of consultation in Pediatrics. They are a group of abrupt, recurrent and stereotyped movements or behaviors that compromise brain function, with spontaneous recovery. We review the main ways to recognize and diagnose them. Key words: dystonia, paroxysmal events, abnormal movements, jitteriness.

¿Crisis febriles complejas o síndrome de Dravet?: Descripción de 3 casos clínicos / Complex febrile Seizures or Dravet syndrome?: Description of 3 case reports

Introduction: Dravet syndrome (DS) is one of the most intractable forms of epilepsy that begins in infancy. This syndrome is characterized by beginning with complex febrile seizures (FS) in a healthy infant and progresses to refractory epilepsy with psychomotor regression. The detection of a SCN1A mutation encoding the sodium channel can confirm the diagnosis. Objective: To report 3 confirmed cases of genetically DS. Case reports: We describe 3 girls diagnosed with complex FS that started when they were between 2 and 7 months old. FS were frequent, hemi generalized and myoclonic associated with recurrent febrile status epilepticus (SE). Despite FS and SE recurrence, the psychomotor development, electrophysiological studies and magnetic resonance imaging (MRI) of the brain were normal. After a year, they developed afebrile seizures progressing to refractory epilepsy with developmental regression. A molecular study detected SCN1A mutation confirming DS. The specific antiepileptic treatment and prevention of febrile episodes allowed partial control of epilepsy with some recovery of psychomotor skills. Conclusions: The high frequency complex FS associated with recurrent SE in a previously healthy infant should alert about the possibility of DS. Molecular diagnostics helps us to establish a drugs and non-drug therapies treatment, as well as long-term prognosis and genetic counseling.

Introducción: El Síndrome de Dravet (SD) es una de las formas más intratables de epilepsia que debuta en lactantes con convulsiones febriles (CF) complejas recurrentes que evolucionan posteriormente a epilepsia refractaria con regresión psicomotora. La detección de una mutación del canal de Sodio (SCN1A) permite certificar el diagnóstico. Objetivo: Reportar 3 casos de SD confirmados genéticamente. Casos clínicos: Se describen 3 niñas con diagnóstico de CF complejas iniciadas entre los 2 y 7 meses de edad. Las CF eran frecuentes, hemigeneralizadas, mioclónicas asociadas a status epilepticus (SE) febriles recurrentes. A pesar de la recurrencia de CF y SE, tanto el desarrollo psicomotor como los estudios electrofisiológicos y la resonancia magnética (RM) cerebral, fueron normales. Posterior al año iniciaron crisis afebriles que evolucionaron a epilepsia refractaria con regresión del desarrollo. El estudio molecular detectó la mutación SCN1A confirmando SD. El tratamiento antiepiléptico específico y la prevención de cuadros febriles permitieron un control parcial de la epilepsia con recuperación de algunas habilidades psicomotoras. Conclusiones: La alta frecuencia de CF complejas asociadas a SE recurrentes en un lactante previamente sano, debe alertar sobre la posibilidad de un SD. El diagnóstico molecular nos permite instaurar un tratamiento antiepiléptico y terapias no farmacológicas además de un pronóstico a largo plazo y consejería genética.