Abstract Details

Title Keep it in Sight: A Case of the Heidenhain Variant in Creutzfeldt-Jakob Disease

Topic Aging, Dementia, and Behavioral Neurology

Presentation(s) P2 - Poster Session 2 (11:45 AM-12:45 PM)

Poster/Presentation
Number 7-004

Objective To raise awareness of the Heidenhain variant in Creutzfeldt-Jakob disease (CJD).

Background

CJD is a fatal neurodegenerative disease affecting about one person in every one million per year. The clinical triad typically comprises of dementia, myoclonus, and ataxia. However, approximately 4.9% of sporadic CJD (sCJD) cases present with only visuospatial complaints at onset, termed the “Heidenhain variant.” In this case report, we discuss this underrecognized presentation of probable sCJD.

Design/Methods

N/A

Results A 73-year-old woman without significant past medical history and who had been fully independent, presented with a 2-month history of poor depth perception, difficulty navigating unfamiliar places, multi-tasking, and mild acalculia. She had been evaluated by ophthalmology who had changed her prescription glasses without improvement and initial neurology evaluation with reportedly normal studies for metabolic/vitamin deficiencies, routine EEG and brain MRI (1.5T) without contrast. Upon our evaluation, she scored 20 out of 30 on the Montreal Cognitive Assessment (MoCA) test with deficits in visuospatial/executive, attention and delayed recall domains. Repeat brain MRI (3T) with/without contrast revealed cortical ribboning with extensive bilateral diffusion restriction, FLAIR signal hyperintensity involving the posterior medial parietal and occipital lobes, basal ganglia and basal temporal lobes. Routine EEG showed left temporal intermittent slowing and labwork for common reversible conditions was unremarkable. The diagnosis of probable CJD was further supported by positive RT-QuiC assay and 14-3-3 protein in cerebrospinal fluid. Shortly after diagnosis, she was enrolled in hospice care with rapid decline over nine months in all cognitive domains as well as physical deconditioning.

Conclusions This case presentation demonstrates the importance of considering this rare condition in patients with rapidly progressive visuospatial disturbances. Prompt recognition of this, lead to a relatively quick diagnosis, saving the patient and her family from additional testing and for early institution of end-of-life support services.

Authors/Disclosures
Claudia Vallin, DO PRESENTER	Dr. Vallin has nothing to disclose.
Maria G. Martucci, MD (Cleveland Clinic)	Dr. Martucci has nothing to disclose.
Damon Salzman, MD (Sunrise Medical Group)	Dr. Salzman has nothing to disclose.

��ɫ��

��ɫ��