Sporadic Creutzfeldt-Jakob Disease: A Case Report and Literature Review

Prion disease is an uncommon entity characterized by exceptionally rapid neurodegenerative deterioration. There are three categories of prion disease: (1) sporadic: sporadic Creutzfeldt-Jakob disease (sCJD), sporadic fatal insomnia, and protease-sensitive prionopathy; (2) genetic: genetic Creutzfeldt-Jakob disease, familial fatal insomnia, and Gerstmann-Sträussler-Scheinker syndrome; and (3) acquired: Kuru, iatrogenic Creutzfeldt-Jakob disease, and variant Creutzfeldt-Jakob disease. Although it is an incurable disease, a specific pathophysiological mechanism exists involving neuronal loss, glial cell proliferation, absence of inflammatory response, development of vacuoles leading to a spongiform appearance, and the presence of prions. This case report describes the approach to a patient with progressive cognitive deterioration, later developing motor ataxia and difficulty in language expression. The patient was hospitalized for the diagnostic approach of autoimmune or paraneoplastic encephalitis at Hospital Ángeles del Pedregal, Mexico City, Mexico, with poor response to medical treatment and clinical worsening. Finally, a diagnosis of Creutzfeldt-Jakob disease was concluded through cerebrospinal fluid analysis. This demonstrates the diagnostic challenge this entity presents.