Progressive multifocal diffusion-weighted imaging hyperintensities in sporadic Creutzfeldt-Jakob disease with positive cerebrospinal fluid real-time quaking-induced conversion: a case report.

backgroundCreutzfeldt-Jakob disease is a rare and invariably fatal neurodegenerative disorder classified among the prion diseases. Primarily affecting the brain, this condition precipitates neuronal cell demise, culminating in swiftly advancing dementia and neurological impairments. Despite its rarity, once Creutzfeldt-Jakob disease manifests, it exhibits a remarkably rapid progression, subjecting patients to a spectrum of neuropsychiatric manifestations, encompassing cognitive decline, behavioral alterations, and motor dysfunction. CASE PRESENTATION: This case study details the medical journey of a 74-year-old East Asian male patient, previously in good health and without any evident familial predisposition to the disease. The patient initially sought medical attention owing to episodic dizziness, headaches, and notable memory lapses, particularly concerning recent events. Over time, his condition deteriorated, marked by a progressive weakening that compromised his ambulatory capacity. Within a span of 2 months, from the initial diagnosis of cerebral infarction, the clinical picture evolved to raise suspicions of Creutzfeldt-Jakob disease. Through a comprehensive diagnostic process involving cerebrospinal fluid analysis, including real-time quaking-induced conversion, cranial magnetic resonance imaging, and electroencephalographic evaluation, the patient was ultimately diagnosed with probable sporadic Creutzfeldt-Jakob disease.

conclusionThis case report describes a confirmed diagnosis of sporadic Creutzfeldt-Jakob disease, supported by clinical manifestations and auxiliary diagnostic tests. The patient initially presented with rapidly progressing cognitive impairment and cerebellar ataxia, which prompted clinical suspicion. Subsequent magnetic resonance imaging findings revealed progressively expanding multifocal punctate and linear diffusion-weighted imaging hyperintense lesions in both cortical and subcortical areas, reinforcing the diagnosis. The definitive diagnostic evidence was obtained through a positive real-time quaking-induced conversion assay, a highly specific test for detecting prion aggregates. Continuous follow-up and careful monitoring remain essential to refine diagnostic precision and facilitate appropriate clinical management.