PMC10272712_01
Axial FLAIR (A), T1 post-contrast (B), and ASL (C) demonstrate cortical edema, cortical and pial enhancement, and marked hyperperfusion involving the left temporal and occipital lobes. DWI (D) and ADC (E) show T2 shine-through but no definite restricted diffusion in the involved regions. Also noted is a chronic infarct in the right frontal lobe.
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F1
On hospital day 8, she underwent a repeat MRI brain demonstrating new left hemispheric gyral swelling and edema involving the occipital, parietal, temporal, and posterior frontal lobes with cortical/pial enhancement and marked hyperperfusion throughout that region (Figure 1).
Pathologic features of NIID on biopsies from all three patients: Hematoxylin- and eosin-stained sections [(A-C); 400x magnification] from biopsies on all three patients showed prominent intranuclear eosinophilic inclusions (arrows), seen within neurons also exhibiting central chromatolysis in the brain biopsy from patient 1, the eccrine glandular epithelium on the skin biopsy from patient 2, and neurons and glia on brain biopsy from patient 3. All intranuclear inclusions were immunoreactive for ubiquitin [(D-F); arrowheads]. Electron microscopy on all three specimens confirmed the presence of intranuclear fibrillar inclusions (G-I).
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F2
Electron microscopy revealed scattered intranuclear inclusions, mostly filamentous (Figure 2).
PMC10272712_02
Pathologic features of NIID on biopsies from all three patients: Hematoxylin- and eosin-stained sections [(A-C); 400x magnification] from biopsies on all three patients showed prominent intranuclear eosinophilic inclusions (arrows), seen within neurons also exhibiting central chromatolysis in the brain biopsy from patient 1, the eccrine glandular epithelium on the skin biopsy from patient 2, and neurons and glia on brain biopsy from patient 3. All intranuclear inclusions were immunoreactive for ubiquitin [(D-F); arrowheads]. Electron microscopy on all three specimens confirmed the presence of intranuclear fibrillar inclusions (G-I).
fneur-14-1184612-g0002.jpg
PMC10272712_03_fneur-14-1184612-g0002.jpg
F2
Electron microscopy revealed scattered intranuclear inclusions, mostly filamentous (Figure 2).
DWI, ADC, and FLAIR from 2017 (A-C), 2019 (D-F), and 2021 (G-I) demonstrate progressive diffusion restriction at the corticomedullary junction of the bilateral frontal and parietal lobes, as well as diffuse confluent white matter FLAIR hyperintensity.
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F3
Repeat brain MRIs revealed progressively increasing symmetric DWI signal at the corticomedullary junction, extending posteriorly from the frontal lobes to involve the parietal and occipital lobes (Figure 3).
PMC10272712_03
Pathologic features of NIID on biopsies from all three patients: Hematoxylin- and eosin-stained sections [(A-C); 400x magnification] from biopsies on all three patients showed prominent intranuclear eosinophilic inclusions (arrows), seen within neurons also exhibiting central chromatolysis in the brain biopsy from patient 1, the eccrine glandular epithelium on the skin biopsy from patient 2, and neurons and glia on brain biopsy from patient 3. All intranuclear inclusions were immunoreactive for ubiquitin [(D-F); arrowheads]. Electron microscopy on all three specimens confirmed the presence of intranuclear fibrillar inclusions (G-I).
fneur-14-1184612-g0002.jpg
PMC10272712_03_fneur-14-1184612-g0002.jpg
F2
Electron microscopy revealed scattered intranuclear inclusions, mostly filamentous (Figure 2).
Axial FLAIR (A), T1 post-contrast (B), DWI (C), and ADC (D) demonstrate diffuse cortical edema and patchy cortical enhancement throughout the left cerebral hemisphere on a background of corticomedullary diffusion restriction involving the bilateral frontal and left parietal lobes as well as diffusion restriction in the corpus callosum.
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F4
On hospital day 20, a follow-up brain MRI demonstrated worsening, predominantly left hemispheric, cortical enhancement, as well as gyral swelling and edema (Figure 4).