Madjer Nikolina, Shaju Rahul, Vipond Colin, MacDougall Andrew, Murty Pavan
Internal Medicine, Advocate Lutheran General Hospital, Park Ridge, USA.
Neurology, Advocate Lutheran General Hospital, Park Ridge, USA.
Cureus. 2024 Aug 26;16(8):e67848. doi: 10.7759/cureus.67848. eCollection 2024 Aug.
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.
克雅氏病（CJD）是一种罕见的、快速进展的致命性神经退行性疾病，由中枢神经系统中一种名为朊病毒的含蛋白质颗粒积累所致。海登海因变异型（HvCJD）是CJD的一种罕见亚型，起病时主要表现为视觉症状。本病例中的患者在入院前有几周的视觉症状。由于这种疾病的罕见性，该患者对其症状进行了大量侵入性检查，最终被诊断为不治之症。本报告的目的是强调一名患有HvCJD患者的临床表现和诊断评估，重点关注认知障碍发作前渐进性视力丧失的初始表现。
