Heidenhain Disease: Challenging Diagnosis of a Creutzfeldt-Jakob Variant.

Creutzfeldt-Jakob disease (CJD) is a rare disorder caused by prions, characterized by rapid deterioration of cognitive and neurological functions. The Heidenhain variant is an uncommon form in which visual symptoms are prominent at onset due to involvement of the occipital cortex, leading to a delayed diagnosis. We present the case of a 67-year-old woman who initially exhibited decreased visual acuity, followed by difficulties in reaching for and identifying objects, experiencing optic apraxia, psychomotor slowing, perseverative behavior, and impaired judgment. Brain magnetic resonance imaging (MRI) showed diffusion restriction and bilateral cortical T2/fluid-attenuated inversion recovery (FLAIR) hypersignal. Additionally, cerebrospinal fluid (CSF) analysis tested positive for the 14-3-3 protein. The patient experienced a rapid neurological decline and passed away four months after the onset of symptoms. This case report highlights the critical need to recognize the Heidenhain variant in patients presenting with isolated complex visual disturbances, especially when accompanied by early cognitive impairment.