PMC6403408_01
Brain magnetic resonance imaging: diffusion weighted image (A) and fluid attenuated inversion recovery image (B). Slight brain atrophy is observed along with linear hyperintensities at the corticomedullary junction of the frontal and parietal lobes.
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Brain magnetic resonance imaging (MRI) showed mild cerebral atrophy, with linear hyperintensities at the corticomedullary junction in the frontal and parietal lobes on diffusion-weighted and fluid-attenuated inversion recovery images (Fig. 1).
Skin biopsy specimen. Immunofluorescence staining with anti-ubiquitin antibody and counterstaining with 4', 6-diamidino-2-phenylindole di-lactate (DAPI). Intranuclear inclusions (arrows) are stained green by anti-ubiquitin antibody. The inclusions are located inside DAPI-positive (blue) nuclei in the merged view. Scale bar = 10 mum.
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A skin biopsy specimen was obtained from the right ankle, and intranuclear inclusions were detected by anti-ubiquitin immunostaining of fibroblasts, sweat gland cells, and adipocytes (Fig. 2).
EEG recorded at the second admission: a monopolar montage (A) and an A-P longitudinal bipolar montage (B). Although the patient was in a semi-comatose state without obvious motor signs suggesting a seizure involving her face or limbs, EEG exhibited generalized bilateral periodic delta waves and sharp waves with a high amplitude (80-150 muV) at intervals from 0.5 to 1 s, which were identified as generalized periodic discharges.
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October 2015, she developed dizziness and vomiting, and was readmitted in a semi-comatose state. On the second hospital day, EEG revealed generalized bilateral high-amplitude periodic delta waves and sharp waves at 0.5-1 second intervals (Fig. 3), although no motor signs suggesting a seizure were noted.