A Presentation of Rare Heidenhain-Variant Creutzfeldt-Jakob Disease

Abstract

Heidenhain-variant Creutzfeldt-Jakob disease (HV-CJD) is a rare pathologic prion disease characterized by visual symptoms preceding progressive neurodegeneration and death. In HV-CJD, pathologic prions display demyelinating neurotropism for the occipital lobe, yielding characteristic visual changes and hallucinations. Herein, we describe the case of a patient who presented with antecedent visual hallucinations followed by declining neuropsychiatric status, startle myoclonus, gait ataxia, and personality change. Clinical symptoms, electroencephalography, magnetic resonance imaging, and lumbar puncture supported a diagnosis of HV-CJD. This case emphasizes the importance of multidisciplinary management for ruling out alternative medical diagnoses, performing appropriate diagnostic studies, and implementing patient-centered management.