DIAGNOSIS AND MANAGEMENT OF PRION DISEASE (CREUTZFELDT-JAKOB) SANTA CRUZ - BOLIVIA

Diagnóstico y manejo enfermedad de Priones

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 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 of the disease presented a 2-month clinical picture characterized by vertigo, myoclonus, dysarthria, decreased visual acuity, a condition that is exacerbated by generalized myoclonus, temporo-spatial disorientation and cognitive impairment. Initial differential diagnosis of drug-induced Parkinsonism, Meniere's syndrome and anxiety attacks, but finally the studies of detection of protein 14-3-3 in the CSF sample (Cerebrospinal fluid). They provided a value higher than the normal limit (limit: 1450 UA/mL; detected value 53100 UA/ml), analyzed together with the clinical data, he was diagnosed with Creutzfeldt-Jakob disease (Prion disease).

This case shows a male patient with an age younger than that of other studies that set 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, so multidisciplinary management and a strategic plan for resolution of complications were carried out, providing palliative care to improve his quality of life.

Keywords: Prion disease, Creutzfeldt-Jakob disease, neuronal damage, 14-3-3 protein, neuronal spongiform degeneration.