SHM Converge Scientific Abstract ePoster Gallery-Neurological Mysteries: Unveiling Creutzfeldt-Jakob Disease

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A 70-year-old woman with hypertension, type 2 diabetes, dementia, Parkinson’s disease, and iron deficiency anemia was admitted for severe anemia. After transfusion and a negative GI workup, she developed new-onset tonic-clonic seizures that became recurrent despite antiepileptic therapy. EEG showed diffuse cerebral dysfunction and later suggested myoclonic status epilepticus, prompting sedation with propofol and midazolam. Brain imaging was initially unrevealing, and lumbar puncture was nondiagnostic. Because of persistent unresponsiveness and concern for autoimmune encephalitis, she received IVIG and high-dose steroids, but her mental status did not improve.  <br /><br />Further cerebrospinal fluid testing on day 22 showed RT-QuIC positivity, markedly elevated tau protein, and elevated 14-3-3 gamma, confirming Creutzfeldt-Jakob disease (CJD). The patient was transitioned to inpatient hospice and died.  <br /><br />The report emphasizes that CJD is a fatal prion disease, most often sporadic, with typical features of rapidly progressive dementia, ataxia, and myoclonus. Seizures are less common and can delay diagnosis, especially when they are the presenting symptom. Because CJD often overlaps with other neurologic and autoimmune conditions, diagnosis can be challenging and requires EEG, MRI, and CSF biomarkers; definitive confirmation comes from brain biopsy or autopsy. This case highlights the importance of considering CJD when seizures are pharmacologically resistant and cognitive decline progresses rapidly. Early recognition can help guide prognosis, symptom management, counseling, and avoid unnecessary interventions.

Asset Subtitle

Kendra Calvin

Meta Tag

Author List Kendra Calvin, Martha Danhof, Nancy Snell, Rama Mourad

Category Clinical Vignettes

Concept Creutzfeldt-Jakob Disease

Concept Rapidly Progressive Dementia

Concept Myoclonus

Concept Sporadic Creutzfeldt-Jakob Disease

Concept Ataxia

Distinguished Non-Finalist

Presenter Organization Texas Health Resources HEB/Denton

Presenting Author Kendra Calvin

Track Adult

Keywords

Creutzfeldt-Jakob disease

CJD

seizures

myoclonic status epilepticus

rapidly progressive dementia

prion disease

EEG

CSF biomarkers

RT-QuIC

hospice care

Creutzfeldt-Jakob Disease

Rapidly Progressive Dementia

Myoclonus

Sporadic Creutzfeldt-Jakob Disease

Ataxia