Diagnóstico y manejo enfermedad de Priones (Creutzfeldt-Jakob) Santa Cruz - Bolivia
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Rev. Inv. Inf. Sal.
Abstract
Resumen: La enfermedad de Creutzfeldt-Jakob presenta una acumulación progresiva de placas amiloides extracelulares alrededor de las neuronas, provocando una degeneración espongiforme neuronal y posteriormente la muerte celular; existen tres formas de la enfermedad: heredada, familiar y esporádica, esta última se caracteriza por una demencia multifocal progresiva con mioclonías. Se reporta un caso de enfermedad de Creutzfeldt-Jakob, en la ciudad de Santa Cruz de la Sierra, Bolivia. Paciente de 35 años, sin antecedentes, cuadro clínico de 2 meses de evolución caracterizado por síndrome vertiginoso, mioclonía, disartria, disminución de la agudeza visual, cuadro que se exacerba con mioclonías generalizadas, desorientación temporo espacial y deterioro cognitivo. Diagnóstico diferencial inicial de Parkinsonismo, síndrome de Meniere y crisis de ansiedad, pero finalmente los estudios de detección de proteína 14-3-3 en la muestra de LCR (liquido cefalorraquideo) aportaron un valor superior al límite de normalidad (límite: 1450 UA/mL; valor detectado 53100 UA/ml), analizados junto a los datos clínicos, es diagnosticado de enfermedad de Creutzfeldt- Jakob (Enfermedad de Priones). Este caso muestra un paciente de sexo masculino con una edad menor a la habitual, que fijan una edad promedio de 60 años en adelante; al igual que muchos otros estudios el deterioro cognitivo es un síntoma inicial y el avance de la enfermedad y detección de la proteína 14-3-3 es un marcador indicativo de daño neuronal por lo que se realizó manejo multidisciplinario y plan estratégico de resolución para las complicaciones y brindando cuidados paliativos para mejorar su calidad de vida.
Abstract: Creutzfeldt-Jakob disease presents a progressive accumulation of extracellular amyloid plaques around neurons, causing neuronal spongiform degeneration and subsequently cell death; there are three forms of the disease: inherited, familial and sporadic, the latter being characterized by progressive multifocal dementia with myoclonus. A case of Creutzfeldt-Jakob disease is reported in the city of Santa Cruz de la Sierra, Bolivia. A 35-year-old patient, with no history, had a 2-month history of clinical symptoms characterized by vertiginous syndrome, myoclonus, dysarthria, decreased visual acuity, a condition that was exacerbated by generalized myoclonus, temporal-spatial disorientation, and cognitive impairment. Initial differential diagnosis of Parkinsonism, Meniere's syndrome and anxiety crisis, but finally the studies detecting 14-3-3 protein in the CSF sample (cerebrospinal fluid) provided a value higher than the limit of normality (limit: 1450 AU/ mL; detected value 53100 AU/ml), analyzed together with the clinical data, is diagnosed with Creutzfeldt-Jakob disease Prions). This case shows a male patient younger than usual, with an average age of 60 years or older; like many other studies, cognitive impairment is an initial symptom and the progression of the disease and detection of the 14-3-3 protein is an indicative marker of neuronal damage, which is why multidisciplinary management and a strategic resolution plan were carried out for the complications and providing palliative care to improve their quality of life.
Abstract: Creutzfeldt-Jakob disease presents a progressive accumulation of extracellular amyloid plaques around neurons, causing neuronal spongiform degeneration and subsequently cell death; there are three forms of the disease: inherited, familial and sporadic, the latter being characterized by progressive multifocal dementia with myoclonus. A case of Creutzfeldt-Jakob disease is reported in the city of Santa Cruz de la Sierra, Bolivia. A 35-year-old patient, with no history, had a 2-month history of clinical symptoms characterized by vertiginous syndrome, myoclonus, dysarthria, decreased visual acuity, a condition that was exacerbated by generalized myoclonus, temporal-spatial disorientation, and cognitive impairment. Initial differential diagnosis of Parkinsonism, Meniere's syndrome and anxiety crisis, but finally the studies detecting 14-3-3 protein in the CSF sample (cerebrospinal fluid) provided a value higher than the limit of normality (limit: 1450 AU/ mL; detected value 53100 AU/ml), analyzed together with the clinical data, is diagnosed with Creutzfeldt-Jakob disease Prions). This case shows a male patient younger than usual, with an average age of 60 years or older; like many other studies, cognitive impairment is an initial symptom and the progression of the disease and detection of the 14-3-3 protein is an indicative marker of neuronal damage, which is why multidisciplinary management and a strategic resolution plan were carried out for the complications and providing palliative care to improve their quality of life.
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Vol. 19, No. 47