Abstract Details

Title A Case of Heidenhain Variant Creutzfeldt-Jakob Disease Presenting with Isolated Homonymous Quadrantanopia and Corresponding Nuclear Imaging Findings

Topic Neuro-ophthalmology/Neuro-otology

Presentation(s) P1 - Poster Session 1 (5:30 PM-6:30 PM)

Poster/Presentation
Number 4-020

Objective To present a case of Heidenhain variant of Creutzfeldt-Jakob disease.

Background Sporadic Creutzfeldt-Jakob disease (sCJD) belongs to a class of prion diseases in which prion protein forms abnormal and pathological folds. In the Heidenhain variant of Creutzfeldt-Jakob disease (HvCJD), patients present with early, prominent visual complaints prior to the onset of more typical features of sCJD. MRI brain is commonly normal, making early diagnosis of this variant particularly challenging. We present a case of a patient with impaired depth perception and homonymous inferior quadrantanopia with normal MRI, in contrast to marked focal FDG-PET and SPECT abnormalities providing clinical-anatomical correlate.

Design/Methods

Case report from a tertiary medical center.

Results A 77-year-old man presented with two weeks of impaired depth perception, blurred vision on the right and falls. On initial exam, he had a dense right inferior quadrantanopia and no cognitive deficits. The general neurologic and ophthalmologic exam were otherwise unremarkable. MRI brain and EEG were non-revelatory. Over the following month, the patient developed right-sided sensory neglect, bilateral right>left dysmetria, a mild right hemiparesis and brisker reflexes on the right. FDG-PET brain revealed striking asymmetric hypometabolism in the left frontal<parietal<occipital lobes. SPECT demonstrated corresponding hypoperfusion in the left parietal and occipital lobes, without critical stenosis. He terminally had diffuse myoclonus and impaired arousal. CSF was positive for 14-3-3 protein and the patient passed away quickly thereafter.

Conclusions HvCJD is a clinical variant sCJD with predominant, early visual symptoms heralding disease later characterized by rapid cognitive decline, movement abnormalities and incipient death. Early diagnosis of HvCJD is hindered by isolated visual signs and symptoms, and often normal ancillary testing including MRI brain and EEG. Nuclear imaging including FDG-PET and SPECT brain demonstrate striking focal abnormalities that correspond to exam findings and may aide in earlier diagnosis and prognostication of this devastating disease.

Authors/Disclosures
Shivkumar Bhadola, MD PRESENTER	Dr. Bhadola has stock in IONIS PHARMACEUTICALS INC. Dr. Bhadola has stock in GINKGO BIOWORKS HOLDINGS INC.
Brittany Lachance, MD (Chest Medicine Associates)	Dr. Lachance has nothing to disclose.
Jonathan Dashkoff, MD, PhD (Brigham & Women's Hospital)	Dr. Dashkoff has nothing to disclose.
Clotilde Hainline, MD (University of New Mexico)	Dr. Hainline has nothing to disclose.

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