Imaging Manifestations of Creutzfeldt-Jakob Disease and Case Series

Abstract

Sporadic Creutzfeldt-Jakob disease (CJD) is the most common prion disease, resulting in rapid neurocognitive decline, and is universally lethal. CJD has a confounding clinical presentation with similarities which overlap with many other neurodegenerative disorders. Brain biopsy is the current gold standard; however, less-invasive initial screening tests are also utilized. These include brain magnetic resonance imaging (MRI), electroencephalography (EEG), and cerebrospinal fluid (CSF) laboratory studies. Five patients presented to our facility with varying levels of nonspecific cognitive impairment and movement disorders. CJD was initially suggested after review of each patient's brain MRI. The T2-weighted fluid attenuation inversion recovery and diffusion-weighted images in each case demonstrated varied classic patterns of signal abnormality involving the cortex, basal ganglia, thalami, and brainstem. EEG and CSF studies were confirmatory in three and four patients, respectively (EEG not performed in one patient). One death occurred two months after initial presentation, and the other four patients were transferred to hospice three, four, nine, and 20 months after initial presentation. Radiological evaluation is an invaluable component of the workup for nonspecific neurodegenerative disorders because brain MRI may suggest the initial diagnosis of CJD, as demonstrated in our presented cases. Familiarity with the spectrum of classic MRI findings suggestive of sporadic CJD can improve radiologists' role in early detection of the most common prion disease. Clinicians may benefit from understanding the utility of the newer CSF laboratory studies (Real-time quaking-induced conversion, T-tau, and 14-3-3 protein), which are far less invasive than the gold standard of brain biopsy. Early diagnosis can help save medical resources and guide clinicians to form appropriate plans of care with the patient and family.