PMC10248219_01
Head CT imaging showing brain atrophy and white matter lesions in the patient. (A) Enlargement of the anterior and posterior horns of the lateral ventricles and widening of the sulcus, with arrows showing white matter lesions around the anterior horns of the lateral ventricles. (B) Enlarged body of the lateral ventricle with arrows showing white matter lesions around the body of the lateral ventricle.
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F1
Head computed tomography (CT) scan on admission showed brain atrophy and white matter lesions (Figures 1A, B).
Histopathological examination of skin biopsy after admission showed round or nearly round inclusion bodies in the nucleus of sweat gland cells (magnification, x200). Immunostaining displayed intranuclear inclusions with p62 (mouse antibody, 610833, BD Biosciences) immunoreactivity.
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F2
Skin biopsy indicated intranuclear inclusion bodies in eccrine sweat gland cells, fibroblasts, and adipocytes. p62 immunohistochemistry demonstrated nuclear immunoreactivity (Figure 2).
Genetic testing by RP-PCR revealed an aberrant GGC repeat expansion in the 5'UTR of the NOTCH2NLC gene.
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F3
Finally, genetic testing by repeat-primed polymerase chain reaction (RP-PCR) found that the patient had GGC repeats in the 5'UTR of the NOTCH2NLC gene (Figure 3).