Rapid Neurological Decline in a Patient With Creutzfeldt-Jakob Disease: A Case Report

TL;DR

A 59-year-old woman experienced an unusually rapid neurological decline from Creutzfeldt-Jakob disease, highlighting the need for early diagnosis and culturally competent care.

Contribution

This case report presents an atypically accelerated progression of CJD and emphasizes healthcare disparities in minority populations.

Findings

The patient's condition deteriorated completely within six weeks, faster than typical CJD progression.

MRI, EEG, and CSF analysis confirmed CJD and underscored the importance of early diagnostic testing.

The case highlights healthcare barriers for minority patients with rare diseases and the need for cultural competence.

Abstract

Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive spongiform encephalopathy caused by the accumulation of misfolded prion proteins, which undergo a transformation from the normal alpha-helix configuration (PrPC) to abnormal beta-pleated sheets (PrPSc). The disease typically leads to a rapidly progressive decline in motor, neurologic, and functional abilities, often culminating in severe disability or death within months. However, the rate of progression can vary significantly among patients, as well as the classification of CJD; being either sporadic, genetic, or acquired (infectious) with some cases demonstrating an exceptionally accelerated course.

We present the case of a 59-year-old woman with a one-month history of mood changes, irritability, temper tantrums, and progressive motor dysfunction. Neurological examination revealed basic orientation, flexed upper extremities with dyskinetic movements of upper and lower extremities, and a prominent startle reflex. Over the next two weeks, while admitted, her condition deteriorated rapidly, resulting in complete incapacitation and inability to respond within a total of six weeks. MRI and EEG findings were highly suggestive of CJD, and the diagnosis was ultimately confirmed through cerebrospinal fluid (CSF) analysis.

This patient’s rapid neurological decline within a short time frame is atypical even within the spectrum of CJD cases. Factors influencing disease progression include age of onset, comorbidities, specific CJD classification, and possibly even the pathogenicity of the misfolded prion proteins. The acceleration seen in this case raises important questions about unidentified biological or environmental factors that could influence disease trajectory. While CJD is universally fatal, recognizing and characterizing these rapidly progressive forms can refine diagnostic criteria and enhance early supportive interventions.

This case highlights the importance of early diagnostic imaging and CSF testing in patients presenting with unexplained neuropsychiatric and motor symptoms. Furthermore, it underscores the need for clinicians to recognize atypical and accelerated presentations of CJD, including fluctuating neurological signs. Although early detection cannot alter the disease course, it may allow for improved quality of life and prevention of disease transmission in those with the genetic subtype. Awareness of these variations in disease progression can ultimately help guide clinical decision-making and future research into neurodegenerative disorders. This case also highlights the importance of equitable healthcare for minority populations. As a South Asian woman with a rare disease, our patient faced potential barriers to timely diagnosis and specialized care. This underscores the need for culturally competent medicine and advocacy to ensure all patients receive dignified and comprehensive care.

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