Genetic Creutzfeldt-Jakob disease mimicking variant Creutzfeldt-Jakob disease.

The ‘‘pulvinar sign’’ on MRI brain scan is defined as hyperintensity of the posterior thalamus relative to the signal intensity of the anterior putamen. In the appropriate clinical context, the pulvinar sign and hyperintensity in the dorsomedial thalamic nuclei (the hockey stick sign) are sensitive and specific features of variant Creutzfeldt– Jakob disease (vCJD). Variant CJD is an acquired form of prion diseases or transmissible spongiform encephalopathies. Since vCJD represents bovine spongiform encephalopathy infection in humans and is a potential public health hazard, it is important that this condition is distinguished from other progressive neuropsychiatric diseases, including sporadic and genetic forms of CJD (gCJD). Here we report a middleaged woman with clinical symptoms and MRI features highly suggestive of vCJD, with a final diagnosis of gCJD.