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Abstract Details

Unusual Presentation of Creutzfeldt-Jakob Disease: A Case Report of Progressive Bulbar Symptoms with Unique Imaging Findings
Infectious Disease
P2 - Poster Session 2 (2:45 PM-3:45 PM)
087

N/A

Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive prion disease, typically presents with cognitive decline, behavioral changes, and motor abnormalities. Isolated bulbar symptoms are uncommon in CJD and rarely reported. 

Case report

A 70-year-old man with vascular risk factors including hypertension, hyperlipidemia, atrial fibrillation, coronary artery disease presented with 6-week history of progressive dysarthria and expressive aphasia, associated with symmetric bilateral facial muscle spasms leading subsequent difficulty in verbal expression. This was followed by mild dysphagia, associated with intermittent coughing with liquids, in the next few weeks. He denied any cognitive issues, seizures, myoclonus, or behavioral changes. Physical examination remarkable for increased tone in bilateral buccinators, orbicularis oris muscles with positive jaw jerk, however no other focal neurological deficits were noticed. Initial imaging showed abnormal cortical diffusion changes in bilateral posterior frontal and temporal lobes, along with mild diffuse pachymeningeal enhancement. Lumbar puncture (LP) revealed no pleocytosis, normal protein, IgG index and Q – albumin ratio. EEG was unremarkable, no focal slowing or epileptogenic focus. He was treated with high dose intravenous methylprednisolone (1 gram) for 5 days, for possible idiopathic pachymeningitis and was discharged with steroid taper. In subsequent visit within 2 weeks, he reported worsening dysarthria to the point that his speech was almost unintelligible, still no cognitive symptoms reported by him or the family members. Repeat imaging showed worsening diffusion restriction in posterior cortex, elevated signal in basal ganglia on the diffusion weighted images, and the resolution of previously noticed pachymeningeal enhancement. LP was repeated which was positive for protein 14-3-3 and RT-QuIC test. Follow-up PET/ CT ordered to rule out any malignancy showed hypometabolism in the bilateral cortical sensorimotor strips.

This case highlights the importance of considering CJD in differential diagnosis of bulbar symptoms and underscores the significance of atypical imaging findings in guiding diagnosis.

Authors/Disclosures
Zabreen Tahir, MD (Houston Methodist Hospital)
PRESENTER
Dr. Tahir has nothing to disclose.
Osman Ozel, MD (Houston Methodist Hospital) Dr. Ozel has nothing to disclose.
Rija Z. Ghazanfar, MD Dr. Ghazanfar has nothing to disclose.
Abdul Rahman Alchaki, MD (Houston Methodist) Dr. Alchaki has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amgen.