Abstract Introduction Creutzfeldt-Jacob disease (CJD) is a rare, fatal neurodegenerative disorder caused by prion proteins. The incidence is 1-2 million cases per million population annually. This disease typically arises spontaneously, characterized by rapidly progressive behavioral changes, myoclonus, cerebellar and extrapyramidal signs. Clinical findings are often nonspecific, making it a challenging diagnosis and most patients tend to die within a year. Case 64-year-old male with no co morbid conditions, presented with fatigue, confusion and unsteadiness for the last three days. On examination the patient would intermittently follow commands but did not have any focal deficit. Family had noticed him be withdrawn and less communicative. Blood and Urine cultures were negative. MRI brain did not reveal any abnormality, and EEG showed rare triphasic waves. Given persistent agitation and altered mental status the patient was intubated. Lumbar puncture had a normal opening pressure, 5 nucleated cells and elevated protein of 114. Infectious work up including cerebrospinal fluid (CSF) bacterial culture, HSV PCR and cryptococcal antigen was negative. He was given 5 days of high dose steroids (1 gm of Methyl prednisone) and subsequently intravenous immunoglobulin therapy without any improvement. Autoimmune encephalitis panel from serum and CSF were both negative. Extended EEG showed diffuse slowing and generalized periodic epileptiform discharges of 1-2 Hz in frequency. Repeat MRI revealed T2 signal intensity in the caudate nuclei, thalami, parietal and occipital cortices suggestive of cortical ribboning concerning for sporadic CJD. CSF real time quacking-induced conduction (RT-QuIC) was positive, and his total tau-protein (T-tau) to phosphorylated tau protein (p-tau) ratio was elevated to 221. T-tau was elevated at 4095, highly consistent with sporadic CJD. Patient’s family decided to pursue comfort measures, and he passed away 1 month into his hospitalization. Conclusion CJD due to its rare nature is not often thought of in the workup and diagnosis of altered mental status. Definitive diagnosis of CJD is challenging and the gold standard is brain tissue biopsy with identification of prion deposition. The diagnosis is highly supported by MRI findings, identification of 14-3-3 protein in the CSF, elevated T-tau with normal and P-tau. Despite significant clinical efforts in this area to date there is still no cure for prion disease. More research along with awareness is needed for early identification of this incurable disease. This abstract is funded by: None
Khan et al. (Fri,) studied this question.