A Case of Minimally Symptomatic CADASIL Diagnosed on a White Matter Lesion Involving the External Capsule and Family History

Key Points

• To highlight the diagnosis of CADASIL in a minimally symptomatic patient based on MRI findings and family history.
• Conducted MRI of the head to investigate hearing loss.
• Identified symmetrical white matter lesions involving the external capsule.
• Assessed family history for CADASIL-related symptoms.
• Confirmed diagnosis through genetic testing for NOTCH3 mutation.
• MRI revealed white matter lesions involving the external capsule.
• Known mutation in the NOTCH3 gene (p.R75P) was detected.
• Indicated that CADASIL can present with mild symptoms despite characteristic lesions.