Case Presentation: A 68 year-old male with hypertension and bipolar disorder presented with a 3-week history of memory deficits, weight loss, and increasing irritability. Exam revealed disorientation, dysarthria, and left sided weakness. MRI was suggestive of a right basal ganglia infarction. Patient was treated for a stroke and discharged. He was readmitted 30 days post-discharge with decreased responsiveness, neurologic decline, and concern for seizures. He was found to be nonverbal and immobile. Neurologic changes were attributed to an infectious etiology due to a leukocytosis of 13.5. Despite broad-spectrum antibiotic therapy, the patient became obtunded, dystonic, and hyperreflexic and developed a positive Babinski’s sign. Repeat brain MRI demonstrated restricted diffusion within the basal ganglia bilaterally and cortical ribboning of the bilateral frontal cortex. EEG showed generalized periodic sharp waves. Based on these findings, CJD was diagnosed. Despite treatment, the patient died on hospital day 15. Further history revealed that his sister died from tissue-confirmed CJD and the patient had eaten animal brains in the past. Tissue on autopsy was positive for PrP27-30, confirming CJD. Further genetic testing was positive for the E200K-129M mutation, consistent with familial CJD.
Discussion: Creutzfeldt-Jakob Disease (CJD) is an infectious, neurodegenerative disease uncommon in the United States. The accumulation of the prion PrPSc, the misfolded form of protease-resistant protein (PrP), results in irreversible neuronal injury and death. Diagnosis of CJD is critical to ensure limited transmission. As physicians, it is critical to be aware of our own bias to ensure a timely, and accurate diagnosis.
Conclusions: This case illustrates a classic presentation of CJD. Initial findings were consistent with CJD but were attributed to an atypical presentation of a cerebral infarct. This case demonstrates “availability bias,” which leads to increased diagnoses of diseases the provider is familiar with and under diagnosis of uncommon diseases such as CJD. There was also premature closure as his neurological decline was attributed to an infection (based on his leukocytosis) without consideration of further diagnoses. Here, premature closure, assigning a diagnosis prior to collecting all data, again resulted in delayed diagnosis. As providers, it is critical to be aware of our own biases and how they affect the care of our patients. While earlier diagnosis would not have changed the patient’s outcome in this case, it could have improved end-of-life care for the patient and his family.
To cite this abstract:Rawal, R; Westrich, D; Leung, C; Amorado, P; Martin, D; Schmidt, J. A STROKE MISDIAGNOSED: A CASE OF FAMILIAL CREUTZFELDT-JAKOB DISESASE REVEALED. Abstract published at Hospital Medicine 2018; April 8-11; Orlando, Fla. Abstract 734. https://www.shmabstracts.com/abstract/a-stroke-misdiagnosed-a-case-of-familial-creutzfeldt-jakob-disesase-revealed/. Accessed November 21, 2019.