A 70-year-old female with history of type II diabetes, hypertension and depression presented with confusion and rigidity. She was fully functional till two months ago. Family initially noticed behavior changes such as forget to take her pills or pay her bills. Her symptoms worsened quickly within one month; as she appeared more confused, less talkative, and she would stare off at the wall for long time. Family took her to a local hospital, where she was diagnosed with confusion secondary to urinary tract infection. She was treated with antibiotics and discharged to nursing facility, but her mental status continued to deteriorate despite antibiotics and rehabilitation. She started to have twitching of the entire body and increasing stiffness, then progressed to unable to feed herself or have trouble finish simple tasks, along with hallucinations. She was then transferred to our medical center for evaluation. Neurological examination was significant for somnolence, mute, not following commands except opening eyes to verbal stimulation, and increased muscle tone throughout worse in left arm. Her MRI brain showed gyriform pattern of subtle restricted diffusion of the bilateral cerebral cortex (cortical ribboning) right greater than left. EEG showed intermittent generalized periodic epileptiform discharges (GPEDs) of periodic short-interval diffuse discharges (PSIDDs) type. Lumbar puncture was performed, cerebrospinal fluid (CSF) analysis revealed normal cell counts, protein and glucose level, negative cultures, negative VZV, HSV 1/2 and Neuron-specific Enolase. CSF real-time quaking induced conversion (RT-QuIC), CSF 14-3-3 protein & total-tau protein analyses were all positive, confirming the diagnosis of CJD. Intensive support and counseling were provided to the family, patient died one month after diagnosis.
CJD is a rare, fatal neurodegenerative disease, its incidence is about one in every one million people per year worldwide. There are three major categories of CJD; sporadic CJD, hereditary CJD and acquired CJD. CJD is characterized by rapidly progressive dementia. Personality changes such as impaired memory, thinking and impaired vision are early symptoms. As disease progresses, patient often developed myoclonus, severe mental impairment, not able to move or talk and coma. There is no proven effective therapy for CJD, death usually happens within one year. Although brain biopsy remains the gold standard diagnostic test for CJD; appropriate clinical features with atypical EEG findings, positive CSF 14-3-3 protein assay and hyper-intense signal on the cortical gyri in MRI (known as the cortical ribbon sign) generally are sufficient for a probable diagnosis for CJD.
While confusion and dementia are very common in elderly hospitalized patients, it is prudent to think broadly and include rare diseases such as CJD in the differential diagnoses, especially in patients presented with rapid progressive dementia.
To cite this abstract:Wang, H . CREUTZFELDT-JAKOB DISEASE(CJD): A RARE CAUSE OF CONFUSION. Abstract published at Hospital Medicine 2017, May 1-4, 2017; Las Vegas, Nev. Abstract 781. Journal of Hospital Medicine. 2017; 12 (suppl 2). https://www.shmabstracts.com/abstract/creutzfeldt-jakob-diseasecjd-a-rare-cause-of-confusion/. Accessed January 20, 2020.