Creutzfeldt-Jakob Disease in South Texas: A Case Series of Three Hispanic Patients

TL;DR

This paper presents three cases of Creutzfeldt-Jakob disease in Hispanic patients in South Texas to improve understanding and early recognition in underrepresented populations.

Contribution

The study provides insights into CJD management and outcomes in a Hispanic population, which is underrepresented in existing literature.

Findings

All three patients presented with progressive cognitive decline, cerebellar signs, and myoclonus.

MRI showed cortical ribboning, and CSF tested positive for 14-3-3 protein and/or RT-QuIC.

All patients died within two years of symptom onset.

Abstract

Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive neurodegenerative disorder instigated by the pleating of prion proteins. Most cases are sporadic, with no identifiable genetic or environmental trigger.

This retrospective case series aims to bridge the current knowledge gap in regard to CJD in Hispanic populations. We hope to review the management and outcomes of three Hispanic patients diagnosed with sporadic CJD at a community hospital in South Texas between 2021 and 2024. Clinical data, imaging studies, and cerebrospinal fluid (CSF) results were reviewed for three unrelated patients aged over 55 who met the Centers for Disease Control and Prevention (CDC) criteria for probable CJD.

All patients presented with progressive cognitive decline, cerebellar signs, and myoclonus. Magnetic resonance imaging (MRI) showed cortical ribboning; CSF was positive for the 14-3-3 protein and/or real-time quaking-induced conversion (RT-QuIC). All patients died within two years of symptom onset.

These cases highlight the need for specialized medical personnel for the early recognition of CJD symptoms in underrepresented populations. Improved awareness and diagnostic readiness can enhance care planning and avoid unnecessary delays from symptom onset to diagnosis and care.

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