RESUMO
Resumen La Esclerosis Múltiple es una enfermedad inflamatoria y degenerativa del Sistema Nervioso Central que afecta a la población adulta joven. La prevalencia de esta entidad es heterogénea en el mundo y baja en el Ecuador. El diagnóstico se basa en los criterios de McDonald 2017. Una vez que el diagnóstico se ha establecido, es necesario determinar si los pacientes tienen factores de mal pronóstico los cuales van a generar un impacto en el tipo de tratamiento a elegir. Al momento, se han estudiado factores pronósticos epidemiológicos, clínicos, biomoleculares y de imagen los cuales nos permiten predecir si la enfermedad tiene un comportamiento agresivo o por el contrario un curso benigno. El número de lesiones en las imágenes de resonancia magnética cerebral, la presencia de lesiones en tronco encefálico y médula espinal son los factores que han demostrado tener un impacto en la progresión de discapacidad. La presencia de bandas oligoclonales en el líquido cefalorraquídeo tiene un rol fundamental en la conversión de un síndrome clínico aislado en esclerosis múltiple clínicamente establecida. Los niveles bajos de vitamina D ha demostrado estar asociado con mal pronóstico pero su aplicabilidad en países como el Ecuador es aún tema de investigación.
Abstract Multiple sclerosis is an inflammatory and degenerative disease of the central nervous system which affects young adults. The prevalence of multiple sclerosis in the world is heterogeneous and is low in Ecuador. The diagnosis is based on the McDonald 2017 criteria. Once the diagnosis has been made, it is necessary that any negative factors which will impact the type of treatment used be identified. At this time, factors such as epidemiological, clinical, biomolecular, and magnetic resonance images, which will allow us to identify if the case is aggressive or benign, are studied. The number of lesions shown in a brain MRI, the presence of lesions in the brain stem and spinal cord are factors which have been demonstrated to have an impact on the progression of disability. The presence of oligoclonal bands in the cerebrospinal fluid has a fundamental role in the conversion of an isolated clinical syndrome to multiple sclerosis. Low levels of vitamin D have been associated with a negative prognosis, however how important vitamin D is in the prognosis of MS in countries such as Ecuador is still an area to be studied.
RESUMO
BACKGROUND: Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder that affects mammals and humans. The prevalence of this disease in the United States is 0.5 to 1 per million inhabitants. So far in Ecuador, we do not know what the prevalence or incidence is, and only one case report has been written. CASE PRESENTATION: We present a case series of Creutzfeldt-Jakob disease in a third-level hospital in Quito. The average age of symptom onset in our patients was 58.8 years. The male to female ratio was 1:1. Two patients began with cognitive/behavioral symptoms, while 4 patients began with focal neurological signs; 1 case with ataxia, 2 with gait disorders and 1 with vertigo and headache. All of the patients had the clinical features established by the World Health Organization. In addition, the entire cohort was positive for the 14-3-3 protein in cerebrospinal fluid, and had high signal abnormalities in caudate and putamen nucleus in DWI and FLAIR IRM. Only in one case, did we reach a definitive diagnosis through a pathological study. All other cases had a probable diagnosis. In this series of cases, 6 out of 6 patients died. The average time from the onset of the symptoms to death in this cohort was 13 months. CONCLUSION: This is the first report of a series of cases of Creutzfeldt-Jakob disease in Quito. Although definitive diagnosis must be histopathological, there are ancillary tests currently available that have allowed us to obtain a diagnosis of the disease.
