PMC8397827_01
Brain imaging features of this patient. (A) Restricted diffusion in bilateral caudate nucleus, putamen nucleus and frontal cortical areas on DWI, obtained at one month, (B) wider distribution of abnormal high signal on DWI, "cortical ribboning" of frontal, temporal, parietal and cingulate cortex, obtained at one and a half months, (C) Brain PET-CT images showed uneven hypometabolism of the whole brain parenchyma most evident in the bilateral frontotemporal lobes, bilateral basal ganglia and bilateral thalamus, obtained at four months. (D) Brain ADC images showed significant ventricular enlargement, obtained at six months after disease onset.
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Brain diffusion-weighted imaging (DWI) imaging showed hyperintense lesions in the bilateral basal ganglia and frontal cortical lobes (Figure 1A). Repeated brain magnetic resonance imaging (MRI) revealed a wider distribution of abnormal high signals on DWI (Figure 1B). To further clarify the diagnosis, the positron emission tomography-computed tomography (PET-CT) was performed (Figure 1C), showing heterogeneous hypometabolism in the whole brain parenchyma with pronounced hypometabolism being noted in bilateral frontal, temporal lobes, basal ganglia and thalamus. However, due to patient's tolerance, only an apparent diffusion coefficient sequence was completed, and the results showed slight hypointensities in the left temporal and parietal lobes, and ventricular enlargement compared to the previous brain MRI (Figure 1D).
EEG showed generalized slowing without typical PSWCs, obtained at (A) three months, (B) three and a half months, (C) four months (D) four and a half months after disease onset.
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In our case, the whole PSWCs were approximately 1 Hz and the sleep staging was inconclusive (Figure 2A and B). The PSWCs remained atypical with the disappearance of sleep staging and periodic synchronous discharge (Figure 2B-D).
PSG trend graph of abnormal sleep structures obtained three months after onset. Recording Duration (min) 1342.1, from 11:01:45 to 09:23:52 the next day.
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The results demonstrated an evident abnormal sleep structure, with a significant reduction in sleep spindles and K-complexes (Figure 3). The periodic leg movement index was 5.8 (Figure 3).
Positive skin biopsy tissue (A) and CSF samples (B) RT-QuIC results at four months after onset (Updated diagnostic guidelines for sCJD have incorporated RT-QuIC for early diagnosis of disease, surveillance, evaluation of PrPsc inoculation in different tissues, and in trial monitoring).
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The biopsied skin and CSF samples were positive according to RT-QuIC (Figure 4A and B).