PEDIATRIC CREUTZFELDT-JAKOB DISEASE: IS THERE A POTENTIAL FOR THE EMERGENCE OF A HUMAN INFANTILE PRION?

Abstract

Creutzfeldt-Jakob Disease (CJD) is a transmissible, fatal and rapidly progressing spongiform encephalopathy traditionally associated with the adult and elderly population. However, rare cases in pediatric patients have raised concerns about the possibility of prion phenotypes emerging in younger populations, whether due to genetic predisposition, exogenous infection or de novo mutations. The neurodegenerative and incurable nature of the disease poses diagnostic and therapeutic challenges, especially in atypical age groups. The aim of this study was to analyze the available evidence on Creutzfeldt-Jakob Disease in children, discussing the plausibility of an emerging potential infantile human prion, the pathogenic mechanisms involved, clinical characteristics, diagnostic challenges and public health implications. This is a literature review with a qualitative and exploratory approach. The studies were selected using the PubMed, Scopus, ScienceDirect and SciELO databases, choosing complete articles published in peer-reviewed journals with relevance to the areas of neurology, neurodegenerative diseases, prion diseases and public health. The time frame covered the period from 2000 to 2020, considering the oldest article (Brown et al., 2000) and the most current (Aguzzi et al., 2020; Martin et al., 2020). The data revealed the existence of few, but relevant, described cases of CJD in children and adolescents, generally associated with the vCJD variant, related to the consumption of products contaminated by bovine spongiform encephalopathy (BSE). Experimental evidence in animal models suggests that the species barrier for prions can be overcome under certain genetic and immunological conditions. Symptomatology in children tends to include early behavioral changes, rapid neurological regression and atypical psychiatric symptoms, often confused with autoimmune encephalitis or rare epileptic syndromes. Definitive diagnosis depends on biomarkers such as 14-3-3, RT-QuIC and brain biopsy, methods that are not always accessible in pediatric settings. It is concluded that although paediatric CJD is extremely rare, it cannot be disregarded, especially in the face of food globalization, spontaneous mutations and increasing environmental exposure. Epidemiological surveillance and the development of specific protocols for investigating progressive encephalopathies in childhood are fundamental for the early recognition of possible emerging prion phenotypes. Understanding the behavior of the disease in young age groups can provide crucial insights into the biology of prions and their long-term risks to public health.