Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers-Danlos syndrome.

Introduction: To date, approximately 600 unique pathogenic variants have been reported in COL3A1 associated with vascular Ehlers-Danlos syndrome (vEDS). The objective of this study was to describe a patient with a novel variant in COL3A1 associated with vEDS. Case report: We describe the clinical history and thorough phenotyping of a patient with brain aneurysms and identified a novel pathogenic variant in COL3A1. This male patient reported transient focal neurologic symptoms. Physical examination showed abnormal atrophic scarring, horizontal stretch marks under the arms, and an acrogeric appearance of the skin of the hands and feet. Brain imaging revealed extensive dilation of both internal carotids and the vertebrobasilar system. Molecular analysis identified a variant in COL3A1 (NM_000090.4):c.3058G>T p.(Gly1020Cys), which was classified as likely pathogenic. Currently, the patient has never had an event concerning dissection/rupture of tissues that could be affected in this condition. Conclusion: This report demonstrates that exhaustive evaluation with clinical and genetic approaches should be considered in patients with vascular abnormalities. vEDS has a variable clinical presentation and often goes unrecognized, even though it is related to life-threatening complications and a shortened life expectancy. Diagnosis confirmed by genetic testing is crucial to determining appropriate surveillance, prevention, treatment, and genetic counseling.

La nueva realidad: Manejo endovascular del trauma de carótida / The new era: Endovascular approach for carotid artery trauma

Introducción. La mayoría de las lesiones de carótida cervical en nuestra institución se manejan por vía endovascular. El objetivo de este estudio fue describir los desenlaces del manejo de las lesiones de carótida cervical en un hospital de cuarto nivel en la ciudad de Cali, Colombia. Métodos. Estudio de series de casos, retrospectivo, descriptivo, en pacientes con trauma de carótida (penetrante y cerrado), admitidos en un centro de alta complejidad de la ciudad de Cali, en el periodo comprendido desde enero de 2018 hasta enero de 2020. Resultados. Se evaluaron 20 pacientes con lesión de carótida, de los cuales 90 % tenía trauma penetrante, en su mayoría por proyectil de arma de fuego. La zona más frecuentemente afectada fue la carótida interna (65 %) y el 40 % de los pacientes presentaban síntomas neurológicos al ingreso. Se realizó manejo endovascular en 13 pacientes, con un 75 % de éxito en el manejo endovascular al ingreso. La mortalidad general fue del 20 %, que en su mayoría estuvo relacionada con traumatismo en otros órganos. El 69 % de los pacientes quedaron sin secuelas neurológicas al alta y el 25 % con secuelas mínimas. Discusión. Se muestra una serie de casos con lesión de carótida donde, teniendo en cuenta las variables de mal pronóstico para hacer una selección adecuada de los pacientes candidatos a este tipo de terapia, el resultado del manejo endovascular fue exitoso

Introduction. Most cervical carotid injuries in our institution are managed by endovascular approach. The objective of this study was to describe the outcomes of the endovascular management of cervical carotid lesions in at a I Level Trauma Center in Cali, Colombia. Methods. Retrospective, descriptive case series study in patients with both penetrating and blunt carotid trauma who were admitted to a I Level Trauma Center between January 2018 and January 2020. Results. Twenty patients with carotid injury were evaluated, of which 90% had penetrating trauma, mostly from a firearm projectile. The most frequently affected area was the internal carotid (65%) and 40% of the patients had neurological symptoms on admission. Endovascular management was performed in 13 patients, with a 75% success rate in endovascular management on admission. Overall mortality was 20%, most of which was related to trauma to other organs; 69% of the patients were left without neurological sequelae at discharge and 25% with minimal sequelae.Discussion. We describe a case series of patients with cervical carotid injury, taking into account the variables of poor prognosis to make an adequate selection of patients for endovascular management, the result of endovascular management was successful

Recomendaciones de diagnóstico y tratamiento del ataque cerebrovascular isquémico agudo durante la contingencia por covid-19 / Recommendations for diagnosis and treatment of the acute ischemic stroke during COVID-19 contingency

RESUMEN INTRODUCCIÓN. El tiempo es un factor importante en el tratamiento del ACV agudo, con la pandemia de covid-19 se puede ver afectada la adherencia a las guías. Se han reportado tasas de ACV en presencia de covid-19 alrededor del 5%, además un aumento en el tiempo de consulta de los pacientes en otras regiones del mundo y una mayor ocupación de camas de UCI para patologías respiratorias que usualmente se destinan a pacientes con ACV. Este documento recoge las recomendaciones del comité de Enfermedad Cerebrovascular de la Asociación Colombiana de Neurología basados en la literatura y votadas por consenso. OBJETIVOS. Proporcionar una guía rápida adaptada a los diferentes escenarios de atención de ACV en Colombia, divididos en centro listo, primario y avanzado incluyendo una ruta de atención para paciente con sospecha de covid-19 denominada Código ACV protegido, que incluye el uso de elementos de protección personal para pacientes y personal de salud. PUNTOS PRINCIPALES. Dentro de las recomendaciones principales está el cuestionario de tamizaje al ingreso a urgencias, uso de tapabocas para el paciente, considerar todo Código ACV sospechoso de covid-19, toma de PCR para covid-19 en todos los ACV y llevar a zona buffer. En sospecha de oclusión proximal incluir tomo-grafía de tórax a la evaluación de imágenes. CONCLUSIONES. Establecer pautas de atención durante la pandemia covid-19 permite optimizar protección para pacientes y personal de salud, disminuir retrasos y tratar de evitar que pacientes no reciban el tratamiento adecuado en los diferentes niveles de atención del sistema de salud.

SUMMARY INTRODUCTION. Time is an important factor in the treatment of acute stroke, with the COVID-19 pandemic adherence to guidelines can be affected. Stroke rates in the presence of COVID-19 have been reported around 5%, in addition to an increase in the consultation time of patients in other regions of the world and a greater occupation of ICU beds for respiratory pathologies that are usually intended for patients with stroke. This document contains the recommendations of the Cerebrovascular Disease Committee of the Colombian Neurology Association based on the literature and voted by consensus. OBJECTIVES. Provide a quick guide adapted to the different stroke care scenarios in Colombia, divided into ready, primary and advanced centers, including a care route for a patient with suspected COVID-19 called the protected stroke code, which includes the use of protection elements for the patient and the healthcare team. MAIN FACTS. Among the main recommendations are the screening questionnaire on admission to the emergency department, the use of face masks for the patient, considering all suspected stroke code as COVID-19, taking the PCR for COVID-19 in all strokes and taking them to the buffer zone. In suspected large vessel occlusion, include chest tomography to image evaluation. CONCLUSIONS. Establishing guidelines of care during the COVID-19 pandemic allows optimizing protection for patients and health care personnel, reducing delays and trying to avoid patients not receiving adequate treatment at different levels of attention in the health system.