Research Day

Clinical Clues To Creutzfeldt-Jakob Disease

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INTRODUCTION: Creutzfeldt-Jakob Disease is difficult to diagnose. Currently, the gold standard is autopsy confirmation, making it a diagnosis of exclusion during life. But there are signs and tests that can be used to clue us to the disease. Here, we outline steps taken to rule in diagnosis in a case with complex symptoms.

CASE PRESENTATION: A 59 year old Caucasian female with history of recent and remote TBIs presented with altered mental status. Family reported progressive functional decline following both TBIs, with a more dramatic decline during the 2 days prior to admission. Symptoms included mood lability, aggression, memory loss and psychotic symptoms.

Hospital workup included urinalysis, UDS, blood tests, imaging, and extensive CSF analysis. Although most labs were unremarkable, some inflammatory markers were mildly elevated. Non-specific physical findings included intermittent mild startle response and jerking movement of extremities. A variety of psychotropic medications were used for behavioral dysregulation. Once behaviorally stable, she was discharged to nursing home because of prominent cognitive decline. CSF findings did return weeks later positive for 14-3-3 protein.

DISCUSSION: Although CJD cannot be definitively diagnosed during life, specific labs, physical signs and symptoms and clinical suspicion may be suggestive. Here, CSF protein such as 14-3-3, S100B, and Tau protein strongly point to prion disease. Fatigue, disordered sleep, and decreased appetite, progressing into memory loss, confusion, hyperekplexia and uncharacteristic behaviors are early signs. Muscle jerks, rapid dementia progression, and ataxia come later. Pulvinar Sign on MRI and CSF RT-QuIC are also highly specific. Treatment is supportive.

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