MRI findings are often missed in the diagnosis of Creutzfeldt-Jakob disease

Abstract

BackgroundEstablishing a confident clinical diagnosis before an advanced stage of illness can be difficult in Creutzfeldt-Jakob disease (CJD) but unlike common causes of dementia, prion diseases can often be diagnosed by identifying characteristic MRI signal changes. However, it is not known how often CJD-associated MRI changes are identified at the initial imaging report, whether the most sensitive sequences are used, and what impact MRI-diagnosis has on prompt referral to clinical trial-like studies.MethodsWe reviewed the MRI scans of 103 patients with CJD referred to the National Prion Clinic since 2007 and reviewed the presence of CJD-associated changes, compared these findings with the formal report from the referring centre and reviewed the types of sequence performed.ResultsIn sCJD we found CJD-associated MRI changes in 83 of 91 cases (91% sensitivity). However, the referring centres documented CJD-associated MRI changes in 43 of the sCJD cases (47% sensitivity). The most common region not documented by referring centres was the cortex (23 of 68 sCJD cases), but there was a statistically significant discrepancy in all regions (p<0.0001). Patients in whom MRI abnormalities were missed by the referring hospital were more advanced at the time of recruitment to a clinical trial-like study (p=0.03).ConclusionsCJD-associated MRI changes are often not documented on the formal investigation report at the referring centre. This is important as delay makes enrolment to clinical trials futile because of highly advanced disease. If a diagnosis of CJD is suspected, even if the initial imaging is reported as normal, a specialist MRI review either by an experienced neuroradiologist or by a prion disease specialist unit could facilitate earlier diagnosis.

Prion Diseases

“…Unfortunately, more commonly the MRI abnormalities are not even noted in radiology reports. 28,29 Among more than 150 pathology-proven serial sporadic Jakob-Creutzfeldt disease subjects, surprisingly we found no differences in the sensitivity of outside MRI reports for sporadic Jakob-Creutzfeldt disease between academic and nonacademic centers. 28 …”

Enfermedad de Creutzfeldt-Jakob en el Perú: reporte de once casos

“…En la RM, las anomalías en los protocolos de difusión y FLAIR forman parte de los criterios diagnósticos actuales de ECJ probable. En esECJ, es característica la hiperintensidad bilateral del núcleo caudado, putamen, tálamo y áreas de la corteza cerebral, hallazgos presentes entre el 81 y el 91% de casos (14,17) . Se realizó la RM con los protocolos mencionados en siete de nuestros casos y se observaron los hallazgos típicos en dos de los casos probables.…”

Ethics in prion disease

“…MRI findings – cortical ribboning and hyperintensities in the caudate nucleus and/or putamen on diffusion-weighted imaging (DWI) or fluid attenuated inversion recovery (FLAIR) – are quite sensitive and specific, achieving about 95% sensitivity and 93% specificity (Shiga, Miyazawa et al 2004; Vitali, Maccagnano et al 2011), better than for any of the CSF biomarkers (Geschwind 2010; Forner, Wong et al 2011; Wong, Forner et al 2011) (Sanchez-Juan, Green et al 2006; Hamlin, Puoti et al 2012). Unfortunately these findings are often missed by radiologists (Geschwind, Kuryan et al 2010; Carswell, Thompson et al 2012). Even MRIs are not always an optimal diagnostic test as they are often expensive and can be quite difficult to obtain in CJD patients who have difficulty remaining still either due to myoclonus or cognitive impairment.…”