April 2011
Volume 52, Issue 14
ARVO Annual Meeting Abstract  |   April 2011
An Atypical Case of Rapidly Progressive Heidenhain-Variant of Creutzfeldt-Jakob Disease (HvCJD), Misdiagnosed as Posterior Reversible Encephalopathy Syndrome (PRES)
Author Affiliations & Notes
  • Eric K. Chin
    Ophthalmology, UC Davis, Sacramento, California
  • Gerard L. Hershewe
    Neuro Ophthalmology, University of Nevada, Reno, Nevada
  • John L. Keltner
    Ophthalmology, UC Davis, Sacramento, California
  • Footnotes
    Commercial Relationships  Eric K. Chin, None; Gerard L. Hershewe, None; John L. Keltner, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 3875. doi:
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      Eric K. Chin, Gerard L. Hershewe, John L. Keltner; An Atypical Case of Rapidly Progressive Heidenhain-Variant of Creutzfeldt-Jakob Disease (HvCJD), Misdiagnosed as Posterior Reversible Encephalopathy Syndrome (PRES). Invest. Ophthalmol. Vis. Sci. 2011;52(14):3875.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: : Creutzfeldt-Jakob Disease (CJD) is a rare degenerative disease of the brain characterized by rapid irreversible decline. The Heidenhain-variant describes any case of CJD in which visual symptoms predominate in the early stages. The disease course of this variant is significantly shorter compared to other patients with CJD. The mode of transmission, basic pathophysiology, and diagnostic work-up remains unclear. The clinical picture of CJD is highly diverse.

Methods: : We present a case report of a 63-year-old female who presented with rapidly progressive bilateral visual field loss since one month prior to our evaluation. Over the following four weeks since our initial evaluation, the patient developed rapidly progressive dementia and ultimately expired. Her case history is unique in the lack of other neurological deficits classically seen with CJD such as myoclonus and ataxia. We emphasize her diagnostic work-up and atypical findings.

Results: : Slit lamp exam was normal; however, Cirrus OCT showed bitemporal optic nerve atrophy consistent with dilated fundus exam. Basic serum labs were unremarkable. Two head MRIs one month prior was only ‘suspicious’ for R occipital infarction. SPECT scan was negative and did not reveal any focal abnormalities. Initial EEG showed diffuse slowing and subsequent EEG just one week later showed frontal intermittent delta activity and triphasic waves consistent with encephalopathy. HVF showed progressive diffuse loss with right superior quadrant sparing. Visual evoked potentials were absent bilaterally. Repeat head MRI just weeks before her death revealed hyperintense bilateral occipital lesions and misdiagnosed as posterior reversible encephalopathy syndrome (PRES). Lumbar puncture was unremarkable initially; however several weeks later (post-mortem) revealed positive 14-3-3 protein. Repeat CSF findings of positive 14-3-3 protein were found at the time of her death.

Conclusions: : Our patient was diagnosed with the Heidenhain-variant of Creutzfeldt-Jackob Disease (HvCJD), based on isolated visual disturbances and rapid development of severe dementia and death. Several features of this case are unique, such that she progressed rapidly over less than two months, and several negative diagnostic tests until late in her presentation. The optic nerve OCT findings have never been previously described. HvCJD should be an important consideration in patients with rapidly progressive visual loss despite unrevealing lab or imaging studies.

Keywords: neuro-ophthalmology: diagnosis • imaging/image analysis: clinical • pathology: human 

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