[Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients]. / Espectro fenotípico y genotípico de la distonía causada por el gen KMT2B. Descripción de tres casos colombianos.

INTRODUCTION: KMT2B-related dystonia is a childhood-onset movement disorder characterized by focal dystonia of the lower extremities progressing to generalized dystonia with predominant cervical, cranial, and laryngeal involvement. So far, fewer than 100 variants have been reported, the vast majority being de novo mutations. The presenting frame of KMT2B dystonia, with dysmorphology features and other complex neurologic symptoms shows the spectrum of KMT2B dystonia as a probable syndromic disease, rather than an isolated early-onset dystonia, which has been the classic view of the condition. CASE REPORTS: We report three patients who presented regression in their neurodevelopment, focal dystonia of the lower limbs with subsequent generalization, in whom two de novo variants were reported in the KMT2B gene, with a mean age of presentation lower than the average reported worldwide. CONCLUSIONS: We describe the largest local series of patients with KMT2B dystonia in Colombia (to our knowledge), which allows us to expand the genotype-phenotype relationship of this genetic dystonia. Although many affected individuals follow a similar disease course, it is important to determine clinical features that may be associated such as neurodevelopmental regression.

TITLE: Espectro fenotípico y genotípico de la distonía causada por el gen KMT2B. Descripción de tres casos colombianos.Introducción. La distonía relacionada con KMT2B es un trastorno del movimiento hipercinético, de inicio en la infancia, caracterizado inicialmente por distonía focal de las extremidades inferiores que progresa a una distonía generalizada con mayor afectación cervical, craneal y laríngea. Hasta el momento se han descrito aproximadamente 100 variantes causantes de enfermedad, y la mayoría son de novo. La presentación clínica de la distonía con hallazgos fenotípicos comunes en los pacientes, asociada a frecuente afectación del neurodesarrollo, afectación intelectual y otros trastornos del movimiento, hace pensar más en el espectro KMT2B como una condición sindrómica, más que en una distonía aislada de inicio temprano, como clásicamente se ha clasificado. Casos clínicos. Se presenta el caso de tres pacientes con regresión del neurodesarrollo, distonía focal de los miembros inferiores con posterior generalización, en quienes se identificaron tres variantes en el gen KMT2B, en dos de los casos de novo (en una de ellas se desconoce la segregación), y dos de ellas comunicadas por primera vez en la bibliografía. La edad media de presentación fue menor a la edad promedio notificada a nivel mundial. Conclusiones. Describimos una serie de pacientes colombianos con distonía DYT-KMT2B (la más grande en nuestro conocimiento a nivel local), lo que nos permite ampliar la relación genotipo-fenotipo de esta distonía genética. Si bien múltiples individuos afectados siguen un curso de enfermedad similar, es importante determinar las características clínicas que pueden estar asociadas, como la regresión del neurodesarrollo y su potencial clasificación como distonía compleja. Describimos, además, dos nuevas variantes asociadas al fenotipo.

[Factors associated to the visiting time in patients with ischaemic cerebrovascular disease]. / Factores asociados al tiempo de consulta en pacientes con enfermedad cerebrovascular isquémica.

INTRODUCTION: The high prevalence of cerebrovascular disease in underdeveloped countries has made it a public health issue. Establishing therapy within the first three hours in the case of patients with cerebrovascular disease has proved to have beneficial effects on the patient. AIM: To identify the factors associated with the time taken to visit the hospital emergency department by patients with ischaemic cerebrovascular disease in the population of Colombia. PATIENTS AND METHODS: We conducted a cross-sectional analytical study that included patients over 18 years old who had been clinically diagnosed as having an acute ischaemic cerebrovascular disease. The time between onset of symptoms and admission to the emergency department was estimated and then related to sociodemographic and cultural factors and the severity of the clinical features. RESULTS: The mean time taken to visit hospital was 17 hours and 48 minutes (standard deviation: 24 hours and 12 minutes). In 22.8% of cases the patient was admitted within the first three hours. Patients who were covered by the subsidised health care system and came from low socioeconomic classes, together with those from rural areas took longer to visit (p < 0.005). The values on the United States Institute of Health scale did not have any relation to visiting times. CONCLUSIONS: The time that elapses between the presentation of the cerebrovascular disease and visiting the emergency department in the Colombian population is high, especially among the population with lower levels of income and schooling. There is a need to implement models of education targeted towards the community and focused on the early identification of signs, symptoms and impact of cerebrovascular disease, as well as to set up a system of health care that prevents delays by coordinating resources both inside and outside hospitals.