Arpun Shah, DO
Resident Physician
Ocean University Medical Center
Colonia, New Jersey, United States
SuAnn Chen, MD
Medical Director
Hackensack Meridian Johnson Rehabilitation Institute at Ocean University Medical Center
Brick, New Jersey, United States
Creutzfeldt-Jakob Disease (CJD)
Case Description:
A 73-year-old female with a past medical history of bladder prolapse, urinary incontinence, and cystocele, presented to the hospital with three weeks of worsening symptoms of imbalance, urinary incontinence, forgetfulness, and apraxia. MRI Brain revealed a left occipital infarct with a mild increased diffusion signal in the right caudate nucleus and putamen. EEG revealed generalized periodic epileptiform discharge on top of mild background slowing. Lumbar puncture revealed positive real-time quaking-induced conversion (RT-QuIC) for prion markers, and elevated T-tau and 14-3-3 proteins. Patient was transferred to acute inpatient rehabilitation, however ultimately needed to be transferred back to hospital due to suspected seizures, myoclonus, and worsening medical condition.
Discussions:
Prion diseases are rare and highly fatal diseases that are characterized by misfolded proteins that cause neuronal tissue death. About 85% of prion diseases occur through sporadic mutations without any significant risk factors. While CJD is the most common prion disease - only about 350 cases are diagnosed annually in the United States. Common presenting symptoms include myoclonus and worsening dementia, in addition to non-specific symptoms such as dizziness, weakness, and blurry vision. Unfortunately, there is no treatment and most patients pass away within a year from complications including infections, respiratory distress, and cardiac issues. While the gold standard for diagnosis is through brain biopsy; MRI, EEG, and lumbar puncture can provide supportive findings. However, CSF analysis for prion diseases can take over a month, which can leave patients and families in vulnerable positions as the disease rapidly progresses.
Conclusions:
This is a rare case of a patient being diagnosed with CJD. It is vital for physiatrists to be aware of the emotional impact of this rapidly fatal disease and to be able to effectively communicate the disease and its prognosis to patients and their families, especially while awaiting confirmatory diagnostic results.
