Post prepared by Dr Mariam Kemal, PGY-3 (Internal medicine), Monmouth Medical Center
This 66 year old female had been living alone independently. However, her neighbors became concerned when she had seemed more withdrawn than usual for about a month, and then stopped going out of the house and paying her utility bills. Ultimately, one of them noticed a dead cat in the house, and immediately called patient’s son who lived out-of- state, and he requested that she be admitted hospital. At the time of her initial evaluation, she was depressed and had a urinary tract infection. She was treated for the infection, and when she expressed suicidal ideation she was transferred to the psychiatric unit. While she was on the psychiatric unit she developed slurred speech, right arm clumsiness and and unsteady gait. She was transferred back to the medical service and underwent a diagnostic evaluation. Her brain MRI showed diffusion restriction in left putamen and caudate nucleus. Her EEG was also abnormal. Her spinal fluid was ultimately positive for presence of Protein 14-3-3, indicating Creutzfeldt –Jacob disease. She has progressed to a very debilitated state in just two week – Her speech was limited to a few intermittent slurred words, she was not able to walk and had diffuse myoclonic jerks. She was transferred to hospice. Her brain was sent for autopsy to The National Prion Disease Pathology Surveillance Center which confirmed the presence of abnormal protease resistant prion protein (PrPSc), commonly identified as PrP 27-30, confirming the diagnosis of sporadic Creutzfeldt-Jacob disease.
What is Creutzfeldt-Jakob disease?
Creutzfeldt-Jakob disease (“CJD”) is a rare brain disorder that causes rapidly progressive dementia with muscle twitching, leading to death within several months.
CJD usually affects older adults.
It is caused by abnormal proteins called “prions” that infect the brain.
“Classic” CJD has been transmitted by infected organs during transplant surgery.
“Variant” CJD (“mad cow disease”) has been transmitted by infected beef.
In addition to dementia and myoclonus, many CJD patients also exhibit behavioral change (including depression), balance problems, and sleep disturbance.
It is the presence of these unusual clinical features, and the rapid rate of clinical deterioration, that distinguish CJD from other dementias like Alzheimer’s disease.
How is Creutzfeldt-Jakob disease diagnosed?
MRI imaging of the brain can show characteristic findings:
The electroencephalogram (EEG) can show periodic complexes:
The spinal fluid can show the 14-3-3 protein.
However, a brain biopsy demonstrating spongiform change is still necessary to confirm the diagnosis in many cases:
Sadly, there are no treatments that can stop or cure the disease, and all affected patients die within several months.