SHM Converge Scientific Abstract ePoster Gallery-A Presentation of Rare Heidenhain-Variant Creutzfeldt-Jakob Disease

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This case describes a 54-year-old woman with 6 weeks of progressive altered mental status, including visual hallucinations, agitation, memory impairment, confusion, personality change, nystagmus, startle myoclonus, and gait ataxia. Her initial workup for infectious, metabolic, autoimmune, toxic, and structural causes was unrevealing.<br /><br />Neurology evaluation with continuous EEG showed generalized periodic discharges with triphasic morphology, and brain MRI demonstrated subtle cortical and left pulvinar thalamic restricted diffusion without enhancement, findings concerning for Creutzfeldt-Jakob disease (CJD). Lumbar puncture was negative for infectious causes, but CJD biomarkers later returned strongly positive: elevated 14-3-3 protein, elevated total tau, and positive RT-QuIC.<br /><br />Because of rapid neurologic decline, psychiatry and neurology were involved in symptom management. A lorazepam challenge was negative for catatonia, and the patient progressed to severe agitation, akinetic mutism, and disorientation. Given the high suspicion for CJD, the health care proxy chose palliative care and hospice.<br /><br />Five days after discharge, CSF results confirmed the diagnosis. The patient died 7 days after discharge, about 3 months after symptom onset.<br /><br />The report highlights Heidenhain-variant CJD (HV-CJD), a rare subtype in which visual symptoms and hallucinations often appear before broader neuropsychiatric decline due to occipital lobe involvement. The authors emphasize that CJD is rare, usually sporadic, rapidly fatal, and has no effective cure. Early recognition is important to expedite diagnosis and transition to palliative care. They recommend considering HV-CJD when visual changes precede neuropsychiatric decline, with evaluation using MRI, EEG, and CSF testing for 14-3-3 protein, total tau, and RT-QuIC.

Asset Subtitle

Brandon Calley

Meta Tag

Author List Brandon Calley, Jesse Fletcher, Pinky Jha

Category Clinical Vignettes

Concept Heidenhain Variant

Concept Hallucination

Concept Visual Changes

Concept Rapid Neuropsychiatric Decline

Concept RT-QuIC

Distinguished Non-Finalist

Presenter Organization Medical College of Wisconsin

Presenting Author Brandon Calley

Track Adult

Keywords

Creutzfeldt-Jakob disease

Heidenhain variant CJD

visual hallucinations

altered mental status

myoclonus

gait ataxia

MRI restricted diffusion

EEG periodic discharges

RT-QuIC

palliative care

Heidenhain Variant

Hallucination

Visual Changes

Rapid Neuropsychiatric Decline

RT-QuIC