Heidenhain variant of Creutzfeldt-Jakob disease masquerading as neuromyelitis optica spectrum disorder: recognizing when apheresis is not the answer

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-...

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Bibliographic Details
Published in:Laboratory medicine 2024-07, Vol.55 (4), p.520-523
Main Authors: Burke, Olivia, Jacobs, Jeremy W, Tormey, Christopher A, Rinder, Henry M, Figueroa Villalba, Cristina A, Lee, Edward S, Silva Campos, Juan J, Abels, Elizabeth, Yurtsever, Nalan
Format: Article
Language:English
Subjects:
Aged
Creutzfeldt-Jakob Syndrome - diagnosis
Diagnosis, Differential
Fatal Outcome
Humans
Male
Neuromyelitis Optica - diagnosis
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Summary: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.
ISSN:0007-5027
1943-7730
1943-7730
DOI:10.1093/labmed/lmad107