Case Presentation: A 70-year-old female with a past medical history of hypertension, type 2 diabetes mellitus, dementia, Parkinsons, and iron deficiency anemia presented to the emergency department due to abnormal lab results. Upon arrival, her hemoglobin was 6.4 and she received 2 units of packed red blood cells. The next day, the patient underwent esophagogastroduodenoscopy and no bleeding was discovered. The following night, the patient had a one-minute seizure described as tonic-clonic which resolved after administration of lorazepam. She was transferred to a higher level of care; neurology was consulted, and she was loaded with levetiracetam. Imaging at this time was unremarkable. Electroencephalography (EEG) was performed after the seizure and showed diffuse cerebral dysfunction which can be seen in a post-ictal state. The patient experienced seizures on day 3 and day 5 of admission despite antiepileptics. The patient was started on fosphenytoin and valproic acid. EEG was suspicious for myoclonic status epilepticus, so the patient was started on propofol and midazolam to decrease epileptogenicity. A lumbar puncture was performed and was unrevealing. Continuous EEG at this time showed intermittent generalized periodic discharges but showed improvement. The patient was weaned off sedation and remained unconscious. The patient received 5 days of intravenous immunoglobulin with no improvement. Thyroid peroxidase antibodies and thyroglobulin antibodies were slightly elevated, and the patient received high-dose steroids for concerns of Hashimoto’s encephalitis. With no progress in the patient’s mentation, a tracheostomy and feeding tube were placed. On day 22, further testing of cerebrospinal fluid (CSF) was reported as RT-QuIC positive, T-tau protein >20000 pg/mL, and 14-3-3 gamma >160000 AU/mL. Unfortunately, these results gave the grim diagnosis of CJD. The patient was then transferred to inpatient hospice and passed away.
Discussion: Creutzfeldt-Jakob disease (CJD) is caused by misfolded prion proteins that ultimately lead to brain degeneration [1]. CJD is categorized into subtypes with the most common being sporadic which is the likely diagnosis of this patient [3]. CJD typically presents with rapidly progressive dementia, ataxia, and myoclonus with seizures being an atypical feature occurring in approximately 20% of cases [1,2]. The pharmacologic resistance of seizures combined with rapid cognitive decline should prompt consideration of CJD when other common causes are excluded [3]. Diagnosing CJD is difficult due to its nonspecific symptoms and overlapping differential diagnoses. Tools like EEG, MRI, and CSF analysis aid diagnosis, but definitive diagnosis relies on neuropathologic confirmation by brain biopsy or autopsy [4]. This case highlights an abnormal presentation of CJD in a female who presented with new-onset seizures. The unusual presentation delayed diagnosis as efforts focused on common seizure origins. This emphasizes early diagnosis allows for better symptom management, informed patient counseling, and avoidance of unnecessary interventions.
Conclusions: CJD is a fatal prion disease that has a median survival rate of 6 months after onset of symptoms [3]. Common symptoms include dementia, hallucinations, and myoclonus [2]. This case report highlighted an unfortunate patient whose discovery of CJD was based on her acute onset seizure. If CJD was diagnosed earlier in her hospital course the patient could have potentially avoided unnecessary interventions.