SHM Converge Scientific Abstract ePoster Gallery-Deceiving Optics of a Distorted Vision: A Rare Look Into Heidenhain Variant of Creutzfeld-Jakob Disease

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This case report describes a rare presentation of sporadic Creutzfeldt-Jakob disease (CJD), specifically the Heidenhain variant, in a 74-year-old man. CJD is a fatal prion disease that usually causes rapid neurologic decline and death within a year. The Heidenhain variant typically begins with visual symptoms, which can delay recognition.<br /><br />The patient initially developed wavy, distorted double vision, metamorphopsia, and palinopsia. Over several weeks, he progressed to headache, unsteady gait, dysphagia, and worsening visual disturbance. On exam, he had reduced visual acuity, mild gait instability, and a positive Romberg test. Early studies showed mild atrophy and small vessel disease on CT. MRI demonstrated cortical restricted diffusion in the right parietal and bilateral posterior parieto-occipital lobes, and EEG showed mild diffuse slowing. CSF testing was positive for 14-3-3 protein, supporting the diagnosis.<br /><br />During readmission, the patient rapidly deteriorated, developing confusion, poor memory and attention, confabulation, visual hallucinations, inappropriate laughter, urinary retention, inability to speak or sit up, bed-bound status, and periodic myoclonus. Based on the visual onset, rapid progression, MRI findings, and CSF 14-3-3 positivity, he was diagnosed with probable Heidenhain variant of sporadic CJD and discharged to hospice. He died within three months of symptom onset.<br /><br />The report emphasizes that hospitalists and clinicians should consider CJD in patients with rapidly progressive dementia, especially when unusual visual symptoms are present. MRI, EEG, and CSF studies are important for diagnosis, and early palliative care involvement is recommended to improve comfort and quality of life.

Asset Subtitle

Alokananda Bhattacharya

Meta Tag

Author List Albin Mammen, Allison Narod, Alokananda Bhattacharya, Anthony Castellano, Katharine Reilly, Shreya Amin, Sonika Chouhan, Zorica Stojanovic

Category Clinical Vignettes

Concept Heidenhain Variant

Concept Sporadic Creutzfeldt-Jakob Disease

Concept Rapidly Progressive Creutzfeldt-Jakob Disease

Concept Cognitive Decline

Concept Probable Creutzfeldt-Jakob Disease

Distinguished Non-Finalist

Presenter Organization Columbia University/ New York Presbyterian

Presenting Author Alokananda Bhattacharya

Track Adult

Keywords

Creutzfeldt-Jakob disease

Heidenhain variant

sporadic CJD

visual symptoms

metamorphopsia

palinopsia

rapidly progressive dementia

MRI restricted diffusion

CSF 14-3-3 protein

palliative care

Heidenhain Variant

Sporadic Creutzfeldt-Jakob Disease

Rapidly Progressive Creutzfeldt-Jakob Disease

Cognitive Decline

Probable Creutzfeldt-Jakob Disease