SHM Converge Scientific Abstract ePoster Gallery-Rapidly Progressive Dementia in an Elderly Woman a Case of Sporadic Creutzfeldt Jakob Disease

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This case describes a 78-year-old woman who presented with a three-week history of rapidly progressive memory loss and functional decline. She had previously been fully independent. On exam, she had myoclonus, bilateral upper extremity ataxia, and no focal neurologic deficits. Initial testing revealed severe hypothyroidism (TSH 151 mIU/L) and a urinary tract infection, both of which were treated as potential causes of delirium/encephalopathy. She also received high-dose steroids for possible autoimmune encephalopathy and thiamine for possible deficiency, but none of these interventions improved her condition.  <br /><br />Brain MRI showed bilateral restricted diffusion in the caudate nuclei, putamen, and thalamus, findings highly suggestive of Creutzfeldt–Jakob disease (CJD). EEG demonstrated diffuse slowing without seizures. Infectious and autoimmune workups were negative. CSF studies supported the diagnosis, with positive RT-QuIC, markedly elevated total tau, and elevated 14-3-3 protein.  <br /><br />The patient was ultimately diagnosed with sporadic CJD (sCJD). Her neurologic status continued to deteriorate during hospitalization, progressing to mutism and profound cognitive impairment. After counseling, the family transitioned her to palliative care, and she died within three months of symptom onset, consistent with the typical rapidly fatal course of sCJD.  <br /><br />This case highlights the diagnostic challenge of CJD, since early symptoms can mimic more common conditions such as infection, metabolic encephalopathy, or autoimmune disease. It emphasizes the importance of considering prion disease in older adults with rapidly progressive dementia, especially when MRI and CSF biomarkers are characteristic. Although no cure exists, early recognition is crucial for prognosis, family counseling, and palliative care planning.

Asset Subtitle

Mahmuda Islam

Meta Tag

Author List Aniqa Islam, Mahmuda Islam

Category Clinical Vignettes

Concept Sporadic Creutzfeldt-Jakob Disease

Concept Rapidly Progressive Dementia

Concept Myoclonus

Concept Prion Disease

Concept RT-QuIC

Distinguished Non-Finalist

Presenter Organization Utsouthwestern Medical Center

Presenting Author Mahmuda Islam

Track Adult

Keywords

sporadic Creutzfeldt-Jakob disease

rapidly progressive dementia

myoclonus

ataxia

restricted diffusion MRI

caudate nuclei

putamen

thalamus

RT-QuIC

CSF biomarkers

Sporadic Creutzfeldt-Jakob Disease

Rapidly Progressive Dementia

Myoclonus

Prion Disease

RT-QuIC