1. Heidenhain variant of Creutzfeldt-Jakob disease masquerading as neuromyelitis optica spectrum disorder: recognizing when apheresis is not the answer.
- Author
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Burke, Olivia, Jacobs, Jeremy W, Tormey, Christopher A, Rinder, Henry M, Villalba, Cristina A Figueroa, Lee, Edward S, Campos, Juan J Silva, Abels, Elizabeth, and Yurtsever, Nalan
- Subjects
CREUTZFELDT-Jakob disease diagnosis ,NEUROMYELITIS optica ,DIFFERENTIAL diagnosis ,VISION disorders ,IMMUNOSUPPRESSIVE agents ,RARE diseases ,BLOOD vessels ,COMPUTED tomography ,CLINICAL pathology ,PLASMA exchange (Therapeutics) ,DISEASE progression - Abstract
The Heidenhain variant of Creutzfeld-Jakob disease (CJD) is a rare form that initially presents with visual disturbances. In early stages, the presentation can mimic neuromyelitis optica spectrum disorders (NMOSD) and lead to unnecessary treatment modalities. Herein, we describe a case of a 66-year-old man who presented with bilateral vision loss and retro-orbital discomfort. In addition to immunosuppressive therapy, he received 4 rounds of therapeutic plasma exchange after his preliminary diagnosis of NMOSD. We were surprised to note that his condition did not show improvement but deteriorated, with severe neurocognitive symptoms. Eventually, CJD was suspected, and real-time quaking-induced conversion (RT-QuIC) was performed. By the time the diagnosis of Heidenhain variant of CJD was confirmed, the patient was discharged to hospice care and died shortly after. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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