False-positive pulvinar sign on MRI in sporadic Creutzfeldt–Jakob disease

Abstract

Sporadic Creutzfeldt–Jakob disease (sCJD) is a neurodegenerative disorder caused by accumulation of protease-resistant prion protein (PrPRES) in the CNS. CJD has attracted increasing interest in recent years with the discovery of a variant form (vCJD), which appears to be caused by the transmission of bovine spongiform encephalopathy.1 The definite diagnosis of both forms relies on neuropathologic post-mortem examination. Because of the potential public health hazard related to vCJD, MRI has become an important pre-mortem tool to noninvasively differentiate between the variant and sporadic form and to rule out potentially treatable conditions. The accuracy and high positive predictive value of the pulvinar sign on MRI (i.e., pulvinar hyperintensities relative to the anterior putamen) have been confirmed in a recent study.2 Here we report on a young patient with clinical symptoms and MRI features highly indicative of vCJD who nonetheless was diagnosed with sCJD at autopsy. A 19-year-old woman had cold sensation in both hands, recurrent episodes of electric shocklike dysesthesias in both arms, sweatiness, and insomnia. …