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Resumen La arteriopatia autosomica dominante cerebral con infartos subcorticales y leucoencefalopatia es una enfermedad autosomica dominante de pequenos vasos causada por mutaciones del gen NOTCH3. Tipicamente se presenta con migrana, eventos isquemicos cerebrales recurrentes y trastornos cognitivos. Las crisis epilepticas son inusuales como manifestacion inicial, pero aun mas infrecuente es su presentacion como status epilepticus no convulsivo 1 . Se presenta una serie familiar de 3 casos con esta arteriopatia, entre los cuales 2 de ellos tuvieron status epilepticus como manifestacion de la enfermedad.

Resumen Introduccion La trombosis venosa cerebral (TVC) es una patologia infrecuente de gran severidad, con una mortalidad del 5%; que afecta predominantemente a mujeres. Existe escasa informacion disponible en nuestro pais, por lo tanto, el objetivo fue evaluar las caracteristicas de nuestra poblacion con TVC. Material y metodos Se analizaron todos los pacientes consecutivos con diagnostico de TVC desde agosto de 1990 hasta octubre del 2017. Las siguientes variables fueron agrupadas, realizandose un analisis comparativo: caracteristicas demograficas y sexo del paciente, asi como las caracteristicas clinicas-epidemiologicas e imagenologicas. Los datos son representados como porcentajes para las variables categoricas o como media para las numericas. Para el analisis se utilizaron los test de Fisher y de Mann-Whitney, segun corresponda. Una p Resultados Incluimos 53 pacientes, edad: 37,7 anos (rango 18 a 85); 73,1% fueron mujeres. Los factores de riesgo mas frecuentes fueron hipertension arterial (HTA) en los hombres 42% (p Conclusion La mayor parte de nuestros pacientes fueron mujeres y una alta proporcion de ellos recibieron tratamiento anticoagulante; presentando evolucion favorable, no registrandose muertes. Este es el primer estudio que analizo las caracteristicas clinicas, epidemiologicas, complicaciones, pronostico y tratamiento de TVC en nuestro pais. Dado la presencia de disparidades regionales, raciales y de estilo de vida entre los diferentes paises y regiones, consideramos necesario explorar dichas variables, en nuestra poblacion.

Background and ObjectivesThere is a worldwide increase in the incidence of stroke in young adults, with major regional and ethnic differences. Advancing knowledge of ethnic and regional variation in causes and outcomes will be beneficial in implementation of regional health care services. We studied the global distribution of risk factors, causes, and 3-month mortality of young patients with ischemic stroke, by performing a patient data meta-analysis from different cohorts worldwide.MethodsWe performed a pooled analysis of individual patient data from cohort studies that included consecutive patients with ischemic stroke aged 18–50 years. We studied differences in prevalence of risk factors and causes of ischemic stroke between different ethnic and racial groups, geographic regions, and countries with different income levels. We investigated differences in 3-month mortality by mixed-effects multivariable logistic regression.ResultsWe included 17,663 patients from 32 cohorts in 29 countries. Hypertension and diabetes were most prevalent in Black (hypertension, 52.1%; diabetes, 20.7%) and Asian patients (hypertension 46.1%, diabetes, 20.9%). Large vessel atherosclerosis and small vessel disease were more often the cause of stroke in high-income countries (HICs; both p < 0.001), whereas “other determined stroke” and “undetermined stroke” were higher in low and middle-income countries (LMICs; both p < 0.001). Patients in LMICs were younger, had less vascular risk factors, and despite this, more often died within 3 months than those from HICs (odds ratio 2.49; 95% confidence interval 1.42–4.36).DiscussionEthnoracial and regional differences in risk factors and causes of stroke at young age provide an understanding of ethnic and racial and regional differences in incidence of ischemic stroke. Our results also highlight the dissimilarities in outcome after stroke in young adults that exist between LMICs and HICs, which should serve as call to action to improve health care facilities in LMICs.