Neuronal intranuclear inclusion disease mimicking acute cerebellitis: A case report

Figure 1 Magnetic resonance imaging obtained at the level of the cerebellum. Bilateral high signal intensities in the cerebral hemispheres and middle cerebellar peduncle are visible. Cerebellum atrophy is evident. T2W: T2-weighted; FLAIR: Fluid attenuation inversion recovery; DWI: Diffusion-weighted imaging; ADC: Apparent diffusion coefficient.

Figure 2 Magnetic resonance imaging obtained at the level of the cerebrum. Diffusion-weighted imaging showed high-intensity signals along the corticomedullary junction. Both T2-weighted and fluid attenuation inversion recovery sequences showed marked cerebral atrophy, white matter degeneration, and old cerebral infarctions. T2W: T2-weighted; FLAIR: Fluid attenuation inversion recovery; DWI: Diffusion-weighted imaging; ADC: Apparent diffusion coefficient.

Figure 3 Skin biopsy specimen. A and B: Immunohistochemical staining showed that the inclusion bodies were positive for p62 (arrows; A: × 40; B: × 80); C: Hematein eosin staining reveals eosinophilic inclusion bodies (arrow; × 40); D: Electron microscopy. The red arrow indicates a spherical inclusion body composed of fibrous substances without membranes.

Figure 4 Repeat-primed polymerase chain reaction analysis. A: Normal control panel shows no repeat expansion; B: Panel of the patient shows the stripe-shaped pattern of expanded repeats of GCC located in the Notch 2 N-terminal like C.