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  • Written By: Michael Vaphiades, DO
    Neuro-Ophthalmology/Orbit

    This retrospective case series of three patients with the Heidenhain variant of Creuztfeldt-Jakob disease (HvCJD) illustrates how the combination of clinical neuroimaging, electroencephalography (EEG) results, and 14:3:3 protein and other neuronal protein marker levels can lead to the diagnosis of HvCJD.

    HvCJD is the visual variant of CJD predominantly affecting the occipital and parietal lobes. However, the initial symptoms and findings may overlap with other posterior cerebral degenerative disorders.

    The authors found that a rapid rate of visual and neurological deterioration coupled with abnormal diffusion-weighted imaging (DWI), EEG, and cerebrospinal fluid (CSF) were characteristic findings. In two patients, the diagnosis of sporadic CJD was confirmed by postmortem studies.

    Neuroimaging findings showed subtle increased intensity in the parieto-occipital region on T2 and FLAIR images only in one case. Yet all three patients had striking visual deficits on examination. Therefore, the authors conclude that HvCJD should be considered in any patient with visual field loss and a normal MRI or when imaging abnormalities fail to explain the clinical findings.

    Although characteristic histopathology of CJD remains the gold standard in establishing the diagnosis, the risk of instrument or surgical suite prion contamination during brain biopsy has limited the availability of brain biopsy, they note. Until a specific serum or CSF prion marker is available, the premortem diagnosis of HvCJD in a patient with PCD continues to rely on close clinical monitoring, neuroimaging testing, serial EEG, and elevated CSF markers.

    They strongly recommend that specimens be sent to the National Prion Research Center at Case Western Reserve University in Cleveland and similar prion research centers for confirmatory, cerebral histopathology, immunohistochemical staining of abnormal protease-resistant prion protein, and genetic testing. This testing protocol establishes the diagnosis of sporadic, variant, and genetic forms of CJD and hopefully will prevent delay in establishing the correct diagnosis.