A case report about CADASlL: mutation in the NOTCH 3 receptor

Area of Science:

• Neurology
• Genetics
• Vascular Neurology

Background:

• Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare, inherited cerebrovascular disorder.
• It is caused by mutations in the NOTCH3 gene, leading to progressive damage in small blood vessels of the brain.
• CADASIL is characterized by recurrent strokes, migraines, cognitive decline, and psychiatric disturbances.

Observation:

• This report details a patient presenting with classic CADASIL symptoms, including migrainous headaches and behavioral changes.
• The patient also had a family history suggestive of stroke, a common indicator in hereditary conditions.
• Diagnostic confirmation involved characteristic findings on head magnetic resonance imaging (MRI).

Findings:

• Head MRI revealed specific white matter lesions consistent with CADASIL.
• Genetic analysis identified a mutation in the NOTCH3 gene, confirming the diagnosis.
• The combination of clinical presentation, imaging, and genetic testing is crucial for accurate CADASIL diagnosis.

Implications:

• This case underscores the importance of recognizing the diverse clinical manifestations of CADASIL.
• Early and accurate diagnosis through integrated clinical, imaging, and genetic approaches is vital for patient management.
• Understanding CADASIL contributes to broader knowledge of genetic arteriopathies and their neurological impact.