2025 年 42 巻 3 号 p. 400-402
Granular osmiophilic material (GOM) is a specific pathologic finding for CADASIL. Skin samples are used to detect GOM for pathologic diagnosis. Immunohistochemical analysis is useful to detect abnormal vascular Notch3 deposits. Anterior temporal pore lesions are specific neuroimaging for CADASIL. To diagnose CADASIL for atypical cases without the lesions, pathologic analysis is needed to confirm result of genetic analysis. Although formalin–fixed paraffin sections are used as standard methods in skin samples, unfixed frozen sections have been used for immunohistochemistry, because unfixed frozen sections are more sensitive to detect the deposits than formalin–fixed paraffin sections. Immunohistochemical analysis for patients with CADASIL is useful to evaluate amount and distribution of Notch3 deposits. The pathologic analysis can be used as a biomarker to evaluate clinical severity.
