case_images: PMC11774858_01
case_images: (A-C) Brain MRI images on DWI are shown. Each image was taken in 2014, 2018, and 2024. (A,B) DWI high-intensity signals were observed along CMJ, and they expanded to deep white matter. (C) DWI high-intensity signals were observed in cerebellar peduncles in 2024. (D-F) Brain MRI images on FLAIR are shown. Each image was taken in 2014, 2018, and 2024. (D,E) FLAIR high-intensity signals were observed in deep white matter in 2014, 2018, and 2024. (F) FLAIR high-intensity signals were observed in paravermis from 2014 to 2024. It was observed in bilateral cerebellar peduncles in 2024. (G) Schematic diagram of the timeline and clinical manifestation of our case. MRI, magnetic resonance imaging; DWI, diffusion-weighted imaging; FLAIR, fluid-attenuated inversion recovery; MoCA-J, Montreal Cognitive Assessment; MMSE, Mini-Mental State Examination.
case_images: fnins-18-1530160-g001.jpg
case_images: PMC11774858_01_fnins-18-1530160-g001.jpg
case_images: fig1
case_images: High-intensity signals on DWI were observed in the CMJ (Figure 1A), and high-intensity signals on FLAIR were observed in the white matter (Figure 1D). Since DWI high-intensity signals were observed along the CMJ (Figures 1A,B), the diagnosis of NIID was considered; however, the patient and her family declined a skin biopsy at that time to diagnose NIID. High-intensity signals on DWI and FLAIR were observed in the paravermal region (Figures 1C,F). High-intensity signals on DWI and FLAIR were observed in both cerebellar peduncles, suggesting MRI findings were consistent with the clinical manifestations (Figures 1C,F). High-intensity signals on DWI were observed along the CMJ of both hemispheres and in the deep subcortical white matter (Figures 1A,B). FLAIR images also showed diffuse high-intensity signals in the deep white matter (Figures 1D,E). A longitudinal brain MRI study revealed that high-intensity signals on DWI expanded from the CMJ to the deep white matter, whereas high-intensity FLAIR signals had already been observed in the deep subcortical white matter at first admission (Figures 1A,D). This suggests that MRI signal changes correlate with clinical manifestations, especially the progression of cognitive impairment (Figures 1A,G).
case_images: (A) Electroencephalogram (EEG) of this case is shown. The EEG frequency indicated about 6-7 Hz, theta band oscillation (scale bar represents 1.0 s and 50 muV). (B) Results of the nerve conduction velocity study are shown. Motor nerve conduction velocity in the median, ulnar, and tibial nerves, as well as sensory nerve conduction velocity in the median nerve, ulnar, and sural nerves, are shown. The amplitude was slightly decreased, and the latency was slightly increased, suggesting axonal neuropathies existed. (C) Skin biopsy findings with anti-p62 antibody immunostaining of fibroblasts (scale bar represents 10 mum). (D) Skin biopsy findings with anti-p62 antibody immunostaining of dermal adipocyte (scale bar represents 10 mum). (E) Expansion of the GGC repeat on the NOTCH2NLC gene was detected by florescence amplicon analysis. (F) Control gene sequences of control by florescence amplicon analysis.
case_images: fnins-18-1530160-g002.jpg
case_images: PMC11774858_01_fnins-18-1530160-g002.jpg
case_images: fig2
case_images: EEG revealed a diffuse slow background (Figure 2A). NCS revealed slightly slow conduction velocity and low amplitude in both the motor and sensory nerves, suggesting mild nerve axon and myelin damage (Figure 2B). A skin biopsy was performed, and intranuclear inclusion bodies were observed (Figures 2C,D). The total number of GGC repeats was 94 (Figures 2E,F), which was higher than normal.