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Abstract Details

Diagnostic Challenge: Sporadic Creutzfeldt-Jakob Disease (sCJD) Presenting with Isolated Visual Symptoms
Infectious Disease
P5 - Poster Session 5 (5:30 PM-6:30 PM)
4-018

To describe a case of the Heidenhain variant of sCJD

Creutzfeldt-Jakob disease (CJD) is a rare and fatal disease classically presenting as a rapidly progressive cognitive decline, ataxia, and myoclonus resulting in death. Here, we present an unusual case of the Heidenhain variant of sporadic Creutzfeldt-Jacob disease (sCJD) presenting with isolated visual symptoms.

Case Report


A 66-year-old man with Diabetes Mellitus developed progressive bilateral blurred vision over a month and was given a diagnosis of proliferative diabetic retinopathy. He received three injections of Aflibercept two weeks apart but his vision continued to deteriorate.

A month later, he presented to the emergency room with gait imbalance, worsening blurred vision and multiple falls. Brain MRI and basic labs were unremarkable. He was discharged to a rehabilitation facility where his vision and cognition deteriorated with development of expressive aphasia and generalized startle myoclonus prompting readmission. EEG showed continuous background slowing. A spinal tap was performed which showed high CSF protein (180 g/dl) but 14-3-3 returned negative. CTA of the head and neck and extensive lab testing including Lyme serology were all unremarkable. Over the next couple of days, he became unresponsive. Repeat MRI brain showed cortical ribbon sign and bilaterally symmetric restricted diffusion in the caudate, putamen and basal ganglia. Repeat EEG showed frequent 1Hz generalized periodic discharges (GPDs). Taken together, patient met CDC’s diagnostic criteria for probable sCJD. He rapidly deteriorated and subsequently died.


sCJD is a rare but fatal neurodegenerative disease and the Heidenhain variant poses a significant diagnostic challenge. Onset and rapid progression of cognitive decline in a patient with isolated visual symptoms should prompt urgent work up for sCJD. Since sCJD is a uniformly fatal disease, early detection and diagnosis can inform early end-of-life preparation.
Authors/Disclosures
Adeolu O. Morawo, MD
PRESENTER
Dr. Morawo has nothing to disclose.
Pauline Hwang, NP (UPMC) Ms. Hwang has nothing to disclose.
Harmanpreet Tiwana, MD No disclosure on file