Heidenhain variant of probable sporadic creutzfeldt–jakob disease presenting as rapidly progressive cortical blindness: A case report

Creutzfeldt–Jakob disease (CJD) is a rapidly progressive prion disorder with diverse clinical presentations. The Heidenhain variant is an uncommon phenotype of sporadic CJD (sCJD) characterized by visual disturbances at or near disease onset, often preceding more typical neurological manifestations. We report a 76-year-old woman who developed diplopia followed within four days by profound, painless bilateral visual loss. Over the subsequent weeks, she developed myoclonic jerks, rigidity, asymmetric quadriparesis, impaired speech, and progressive reduction in responsiveness. Autoimmune encephalitis was initially suspected, and treatment with intravenous immunoglobulin and high-dose methylprednisolone was administered without sustained neurological improvement. Extensive evaluation for infectious and autoimmune causes did not establish an alternative diagnosis. Brain magnetic resonance imaging demonstrated bilateral posterior/parietal cortical abnormalities, including cortical hyperintensity on diffusion-weighted imaging. Serial electroencephalography showed evolution from bilateral spikes and sharp-slow-wave discharges to generalized, bilaterally synchronous periodic sharp-wave complexes occurring at approximately 1–2 Hz. Visual evoked potentials demonstrated bilateral attenuation of amplitudes. In the context of rapidly progressive neurological deterioration, prominent early cortical visual dysfunction, characteristic posterior cortical magnetic resonance imaging abnormalities, and evolving periodic sharp-wave complexes, the clinical picture supported a diagnosis of probable sCJD with a Heidenhain phenotype. Real-time quaking-induced conversion and 14-3-3 protein testing were unavailable, and neuropathological confirmation was not obtained. This case highlights the importance of considering sCJD in older patients with rapidly progressive unexplained visual loss and demonstrates the diagnostic value of correlating the clinical trajectory with serial neuroimaging and electroencephalographic findings.