Year: 2024
Type: article
Study design: Case Report
Abstract: Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, fatal neurodegenerative disorder caused by an accumulation of protein-containing particles called prions in the central nervous system. The Heidenhain variant (HvCJD) is a rare subtype of CJD that presents with predominantly visual symptoms at onset. The patient presented in this case had several weeks of visual symptoms prior to hospital admission. Due to the rare nature of this disease, this patient underwent a substantial and invasive workup of her symptoms that eventually led to her being diagnosed with an incurable disease. The aim of this report is to highlight the clinical presentation and diagnostic evaluation of a patient suffering from HvCJD, with a focus on the initial presentation of progressive vision loss prior to the onset of cognitive impairment.
Source: Cureus
DOI: 10.7759/cureus.67848
Authors: Nikolina Madjer, Rahul Shaju, Colin Vipond, Andrew MacDougall, Pavan Murty
Institution: Advocate Lutheran General Hospital
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4401873703