Creutzfeldt-Jakob Disease
Patient Presentation:
A 49 year-old man (R.S.) transferred from an assistant living facility with progressive decreased mental status and increase in seizure activity. On arrival to ED R.S. is only making moaning noises, is unable to open eye-lids, and unable to follow commands. Neuromuscular reflexes are slowed. ED doctors decide to intubate for airway protection. Vital signs on arrival 153/70, HR 95, Oxygen Sat 95% on 2L NC, and Temp 37.8 °C. Patient’s wife placed patient in an assistant living facility ten months prior, when patient was diagnosed with progressive dementia. R.S’s wife was unable to take care of him on her own due to her health status. Patient was sent to the ICU for further neurological monitoring.
Differential List:
Ischemic Stroke, Intracranial Hemorrhage, Seizures, Brain tumor, Meningitis, Infection
Labs: CBC with Diff, Metabolic panel, clotting panel, lactate, ABG. Stat CT scan. WBC was 20; other lab values were within normal limits. CT scan showed holes in the brain tissue. LP ordered and CSF revealed positive 14-3-3 protein. MRI was ordered the next day and showed “sponge-like holes” in the brain tissue and showed high signal intensity in the caudate nucleus and putamen bilaterally. EEG was ordered on Day 2and revealed triphasic waves with decreased neuronal activity.
Diagnosis:
Creutzfeldt-Jakob Disease. CJD is very similar to vCJD, mad-cow disease in humans (bovine spongiform encephalopathy). CJD develops holes and takes on a sponge-like texture in brain tissue most often identified through MRI imaging. This disease is due to an infectious protein called a prion. Prions are misfolded proteins that replicate progressively showing clusters of amyloid-like material. This causes neuronal cell death. The classic appearance is spongiform change in the gray matter; presence of many round vacuoles in all cortical layers in the cerebral cortex with diffuse involvement in the cerebellar layer. The vacuoles appear glassy and neuronal loss is seen on imaging. Biopsy of Brain tissue is the definitive diagnostic test.
Treatment:
Currently, there is no treatment for CJD. The disease is fatal and research continues.
Outcome:
The prognosis was poor. Wife was well informed of her husband’s condition and refused a biopsy. R.S.’s brothers and sisters were overwhelmed with the diagnosis and wife’s decisions about medical treatment. There was a lot of arguing amongst family members in the clinical setting. This case actually became an ethical consult case. R.S.’s wife decided to withdraw treatment and allow her husband’s to die without further suffering. The patient died the following day and no autopsy was requested. A year later the hospital was in a law suit against the patient’s brothers, sisters and patient’s daughter. There is still an unclear outcome of the court case.
Case created by Randi Shupp, 2012.