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Comment
. 2021 Oct 26;97(17):813-816.
doi: 10.1212/WNL.0000000000012737. Epub 2021 Sep 8.

Sporadic Creutzfeldt-Jakob Disease in a Very Young Person

Brian Stephen Appleby  1 , Ryan Maddox  2 , Lawrence B Schonberger  2 , Ignazio Cali  2 , Teresa Hammett  2 , Mark Cohen  2 , Ermias Belay  2
Affiliations
Comment

Sporadic Creutzfeldt-Jakob Disease in a Very Young Person

Brian Stephen Appleby et al. Neurology. .

Abstract

Background and objectives: Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common form of human prion disease and typically occurs in middle to late life. sCJD in early adulthood is extremely uncommon. The purpose of this report is to raise awareness of cases of sCJD in young patients that are not associated with a genetic mutation or acquired prion disease risk factors.

Methods: We describe the clinical presentation, diagnostic workup, and postmortem examination of a 22-year-old man with sCJD.

Results: The patient presented with a rapidly progressive neurocognitive disorder consisting of early and prominent psychiatric symptoms. CSF real-time quaking-induced conversion (RT-QuIC) was indeterminate, and brain MRI was suggestive of prion disease. Neuropathologic examination and the absence of a genetic mutation and acquired prion disease risk factors resulted in a final diagnosis of sCJD.

Conclusion: Although extremely rare, sCJD can occur in young people and should be considered in the setting of rapidly progressive neuropsychiatric conditions. Postmortem examination is required to diagnose the type of prion disease and remains important to surveil for known and potentially novel acquired prion diseases.

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Figures

Figure 1
Figure 1. Brain MRI 3 Months After Symptom Onset
Hyperintensity is seen in most cortices and bilateral caudate heads on diffusion-weighted imaging (A) and fluid-attenuated inversion recovery (B) sequences. Attenuation of the signal is noted in some cortical areas on apparent diffusion coefficient (C).
Figure 2
Figure 2. Histopathology
Hematoxylin & eosin (A and C) and immunohistochemistry (B and D) of prion protein. (A and C) Spongiform degeneration with medium size; vacuoles (arrow). (B and D) Faint PrP immunostaining with synaptic pattern. Antibody: 3F4; size bar: 100 µm.
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