The Heidenhain variant of Creutzfeldt-Jakob disease: Clinical, pathologic,and neuroimaging findings

We report two patients who developed isolated visual symptoms and signs as initial manifestations of Creutzfeldt-Jakob disease (CJD). Both patients ha d normal conventional T1- and T2-weighted brain magnetic resonance (MR) ima ges; in one patient, early cortical abnormalities were detected by diffusio n-weighted and fluid attenuated inversion recovery (FLAIR) magnetic resonan ce imaging (MRI). Results from the cerebrospinal fluid assay for the 14-3-3 brain protein were also negative in one patient, despite pathologic confir mation of CID at autopsy. The Heidenhain variant of CJD should be considere d in all patients who present with isolated visual manifestations. includin g homonymous hemianopsia and normal conventional brain MRI. Diffusion-weigh ted and FLAIR MRI may demonstrate early cortical abnormalities in patients with CJD. The CSF assay for the 14-3-3 protein may be normal. even in patho logically confirmed cases.