Objective: To highlight unusual early presenting symptoms of Sporadic Creutzfeldt-Jakob Disease (sCJD).

Background: Prion diseases, a group of rare and fatal diseases caused by an abnormal accumulation of a scrapie prion protein, lead to rapid dementia and multiple neurological symptoms ^[1]. Three main types include: Sporadic, Genetic and Iatrogenic ^[1]. Patients with sCJD can present with a variety of neurological presentations that can result in misdiagnosis due to overlap with more common conditions. We present a case of gait ataxia and orthostatic hypotension as an early presentation of sCJD.

Method: A Case Report

Results: A 53-year-old female presented with two months of recurrent falls, gait difficulty and cognitive changes. She was noted to have orthostatic hypotension with a previously negative cardiac evaluation. MRI was notable for restricted diffusion of the right caudate initially concerning for possible ischemic stroke with asymmetric presentation. However, patient continued to have rapid neurologic deterioration over weeks resulting in hospitalization for continued falls, encephalopathy and mood lability. Repeat examination was notable for flat affect, short-term memory impairment, roving eye movements, right beating nystagmus and diffuse tremor, left-sided ataxia and gait ataxia. Repeat MRI Brain was notable for right frontal cortical ribboning with T2 hyperintensity of the bilateral caudate, bilateral basal ganglia, and bilateral thalami. At this point, there was a high suspicion for prion disease. A 14-3-3 was positive and an EEG was notable for FIRDA. Work-up for autoimmune, toxic and infectious etiologies was negative and a probable diagnosis of CJD was made based on clinical diagnostic criteria [4]. The patient later developed right sided cervical dystonia, akinetic mutism, visual hallucinations and startle myoclonus. Family elected to pursue palliative measures given rapid neurologic decline.

Conclusion: Sporadic CJD is a rapidly progressive incurable dementia syndrome which can present with a variety of neurologic and systemic symptoms. Here we highlight an unusual presentation of this prion disease with earlier features of gait ataxia and autonomic dysfunction with subsequent progression to a multitude of movement disorders [2][3]. Given challenges of diagnosis, raising awareness for atypical presentations allows for earlier recognition and timely supportive management for these patients.

References: 1. Moore RA, Head MW, Ironside JW, Ritchie DL, Zanusso G, Choi YP, Priola SA. The Distribution of Prion Protein Allotypes Differs Between Sporadic and Iatrogenic Creutzfeldt-Jakob Disease Patients. PLoS Pathog. 2016 Feb 3;12(2):e1005416. doi: 10.1371/journal.ppat.1005416. Erratum in: PLoS Pathog. 2016 Mar;12(3):e1005496. Pyo Choi, Young [corrected to Choi, Young Pyo]. PMID: 26840342; PMCID: PMC4740439.

2. Mead S, Rudge P. CJD mimics and chameleons. Pract Neurol. 2017 Apr;17(2):113-121. doi: 10.1136/practneurol-2016-001571. Epub 2017 Feb 2. PMID: 28153848; PMCID: PMC5520355.

3. Nomura E, Harada T, Kurokawa K, Murata Y, Ishizaki F, Mimori Y, Nakamura S. Creutzfeldt-Jakob disease associated with autonomic nervous system dysfunction in the early stage. Intern Med. 1997 Jul;36(7):492-6. doi: 10.2169/internalmedicine.36.492. PMID: 9240499.

4. CDC’s Diagnostic Criteria for Creutzfeldt-Jakob Disease (CJD), 2018 https://www.cdc.gov/prions/cjd/diagnostic-criteria.html. Accessed 15 March 2022.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/gait-ataxia-and-autonomic-dysfunction-as-early-signs-of-creutzfeldt-jakob-disease-a-case-report/