ABSTRACT
Abstract Given the lack of standardized guidance for follow-up of patients with neuronal ceroid lipofucsinosis-2 disease in Latin-American countries and the heterogeneity of the region, an expert panel was created with the participation of 11 pediatric neurologists from Colombia, Argentina, Brazil and Chile. The aim of the expert panel was to describe a framework for standardized follow-up in patients with neuronal ceroid lipofucsinosis-2 disease, on or off therapy, that could benefit patients and treating physicians alike. Experts made recommendations in the following areas: seizures, abnormal movements and ataxia, sleep disorders and pain, cognitive function, visual function, hearing and speech, cardiac function, quality of life, and motor function. Recommendations include the most appropriate tools for use in the Latin-American context and health care systems, and provide feasible follow-up guidance, applicable in public and private healthcare facilities. They take into consideration the availability of clinical assessment resources, tools (scales, questionnaires, paraclinical tests) and access to these tools in Latin-American countries, as well as other regional and local needs defined by the participating experts.
ABSTRACT
La enfermedad de Moyamoya es una patología cerebrovascular, de causa desconocida e infrecuente en poblaciónoccidental; se reconoce como evento isquémico en la edad pediátrica, secundario a estenosis progresiva de la porciónintracraneal de la arteria carótida interna y ramas principales. Esto ocasiona reducción del flujo de los vasosmayores de la circulación anterior y provoca desarrollo compensatorio de pequeños vasos colaterales; el manejopuede ser conservador o quirúrgico. Se describen 4 casos pediátricos diagnosticados, manejados y seguidos en laconsulta de neuropediatria, uno de ellos corresponde a un síndrome de Moyamoya, y los otros a enfermedad, a 3pacientes se les realizó manejo conservador y a uno amanejo quirúrgico.