Rapidly Progressing Sporadic Creutzfeldt-Jakob Disease Presenting as a Stroke

Abstract

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, fatal human prion disease that is characterized by progressive dementia and neurologic degeneration. It can mimic multiple other neurological disorders, and a high index of clinical suspicion is necessary to make a diagnosis. A 74-year-old woman with a 3-month history of a stroke and progressive neurologic deterioration was found to have sCJD. She expired within a week of her diagnosis. Autopsy revealed spongiform encephalopathy consistent with prion disease, and genetic analysis revealed 129 polymorphism and no pathologic mutation, confirming the diagnosis of nonfamilial human prion disease. No pathologic evidence of a stroke was found. Awareness of the disease by clinicians is important not only at the time of initial presentation but also during the following months. Since there is no treatment, invasive medical procedures should be limited to only those that are required for either diagnosis or hospice care.

Creutzfeldt-Jakob and Vascular Brain Diseases: Their Overlap and Relationships

“…RT-QuIC assay was positive in three cases: 1 ( 22 ), 2 ( 23 ), and 4 ( 10 ). S100B CSF protein was positive in three cases: 1 ( 22 ), 3 ( 24 ), and 9 ( 11 ).…”

“…One patient was diagnosed with a stroke with progressive neurological deterioration. After her death, however, this diagnosis was not confirmed at autopsy, and instead, showed positive 3F4 immunostaining with characteristic features of spongiform encephalopathy along with PRNP gene sequence analysis with 129 polymorphism valine homozygosity (VV2) [case 3 ( 24 )].…”

“…Possibly, they are related to the rate of prions accumulation, for which there may be a genetic reason ( 15 ). However, the PRNP gene sequence analysis in patients with stroke-like sporadic CJD was performed only in 2/23 studies [case 3 ( 24 )—VV2 at the polymorphic codon 129; case 11 ( 15 )—subtype MM/MV1 + 2C PrP Sc -type accumulation, ( 29 )], which did not allow us to draw any conclusions.…”

Stroke mimics: A review

“…Creutzfeldt-Jakob disease is a rare fatal human prion diseaseand its annual incidence is about one per million [50,51]. It has various initial symptoms and may mimic a stroke during its early stage [52].…”

“…It has various initial symptoms and may mimic a stroke during its early stage [52]. But it is characterized by rapidly progressive dementia and neurologic degeneration that is often followed by behavior disorders, ataxia, myoclonus, and akinetic mutism [50,52]. Parasitic encephalopathy may present as SM and initial brain CT scan may suggest AIS sometimes.…”