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

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.

Keywords: creutzfeldt-jakob disease; neurological diseases; pakistani patients; prion diseases; south asian.

Figure 1. Serial Brain MRI Demonstrating Progressive Changes in Creutzfeldt-Jakob Disease (CJD)

(A) Initial brain MRI showing diffusion-weighted imaging (DWI) hyperintensities involving the bilateral caudate nuclei and subcortical cortical ribboning in the insular and parietal regions, suggestive of early prion disease (white arrows). (B) Follow-up brain MRI performed 57 days later reveals the progression of DWI hyperintensities involving the bilateral caudate nuclei, putamen, insular cortices, posterior temporal lobe cortices, and medial frontal lobes, consistent with advancing CJD (white arrows).