Session Title: AA 2021 Virtual Posters - Neurological Rehabilitation
Session Time: None. Available on demand.
Disclosures: Lauren E. Massey, MD: No financial relationships or conflicts of interest
Case Diagnosis: Creutzfeldt-Jakob disease
Case Description: A 62-year-old male with no significant history presented with 4 weeks of acute progressive left-sided dysmetria and ataxic speech without weakness. Exam was notable for left facial droop, left uvular deviation, and left-sided hyperreflexia in addition to left-sided cerebellar signs. He underwent extensive workup including negative head imaging and a mildly elevated CSF protein of 45 and IgG of 0.69. He received a 5-day course of high dose steroids for empiric treatment of immune-mediated steroid-responsive cerebellar ataxia, however his symptoms continued to progress. He was discharged to an inpatient rehabilitation facility (IRF) where he developed myoclonus and cognitive impairments. Repeat MRI demonstrated cortical ribboning and bilateral caudate hyperintensity. He was transferred to the acute hospital and diagnosed with sporadic Creutzfeldt-Jakob disease (CJD) after CSF 14-3-3 resulted as positive. Palliative care was consulted given the rapid progression of disease and poor prognosis. He was discharged to inpatient hospice and ultimately passed shortly thereafter.
Setting: Inpatient Rehabilitation HospitalAssessment/
Discussion: CJD is a rapidly progressive neurodegenerative disorder believed to be caused by an abnormal isoform of a cellular glycoprotein known as the prion protein. It is invariably fatal within 1 year of symptom onset with a mean survival of six months. The peak incidence is in the 7th decade of life and it has a prevalence of 1 case per million population. Sporadic CJD, the most common human prion disease, accounts for 85% of human prion disease cases. It has been reported that around 5-15% of cases are due to inheritance mutations of the prion protein gene.
Conclusion: This case report aims to spread awareness of the uncommon yet fatal neurodegenerative disorder known as CJD, with an emphasis on presentation and diagnosis.
Level of Evidence: Level V
To cite this abstract in AMA style:Massey LE, Mansourian V, Berlin EM, Khan SA. A Case of Rapidly Progressive Ataxia and Myoclonus Found to Be Creutzfeldt-jakob Disease [abstract]. PM R. 2021; 13(S1)(suppl 1). https://pmrjabstracts.org/abstract/a-case-of-rapidly-progressive-ataxia-and-myoclonus-found-to-be-creutzfeldt-jakob-disease/. Accessed December 3, 2023.
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