PMC9950388_01
Imaging examinations of the patient. (A) FLAIR sequence shows diffuse, bilateral white matter lesions with hyperintensity. (B) DWI sequence shows no characteristic hyperintense areas in the corticomedullary junction. (C) MRS focused on the frontal lesion shows no lactate peak appearance. (D) MRA shows no significant intracranial aortic stenosis or occlusion changes. (E, F) Brachial and lumbosacral plexus MRI showed extensive thickening in the nerve roots. FLAIR, fluid-attenuated inversion recovery; DWI, diffusion-weighted image; MRS, magnetic resonance spectroscopy; MRA, magnetic resonance angiography; MRI, magnetic resonance imaging.
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F1
Brain MRI showed diffuse, bilateral white matter lesions without hyperintensity in the white matter adjacent to the cortex on DWI (Figures 1A, B). However, strokes or mitochondrial diseases were unsupported by negative findings in the magnetic resonance angiography and the magnetic resonance spectroscopy (Figures 1C, D). Brachial and lumbosacral plexus MRI showed extensive thickening in the nerve roots (Figures 1E, F).
Histopathologic and genetic analyses of the patient. (A) Hematoxylin-eosin staining shows eosinophilic inclusion bodies in some sweat gland cells. Scale bars 20 mum. (B) Anti-P62 immunohistochemical staining. Visible inclusion bodies in the nucleus of some skin sweat gland cells. Scale bars 20 mum. (C) RP-PCR of the patient with a characteristic saw-tooth pattern for an expansion of 151 GGC repeated in the 5'-untranslated region of the NOTCH2NLC gene. RP-PCR, repeat-primed PCR.
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F2
Therefore, we performed a skin biopsy and found eosinophilic inclusions positive for anti-p62 in the fibroblasts and sweat gland cells of the skin tissue (Figures 2A, B). Additionally, an expansion of 151 GGC repeated in the 5'-untranslated region of the NOTCH2NLC gene was detected by repeat-primed polymerase chain reaction (Figure 2C), further confirming the diagnosis of NIID.