Cadasil syndrome: A case report with a literature review

Area of Science:

• Neurology
• Genetics
• Vascular Biology

Background:

• CADASIL is a rare, autosomal dominant genetic microangiopathy.
• Its precise epidemiology and physiopathogenesis require further elucidation.
• The condition stems from mutations in the NOTCH3 gene, affecting vascular elasticity.

Observation:

• Clinical manifestations are diverse, including migraine with aura, ischemic strokes, and psychiatric disorders like depression.
• Magnetic Resonance Imaging (MRI) is vital for diagnosis, even pre-symptomatically.
• Characteristic MRI findings include signal abnormalities in the basal ganglia and white matter, particularly in the anterior temporal lobes.

Findings:

• NOTCH3 gene mutations lead to impaired elasticity in the media of affected blood vessels.
• Early detection via MRI aids in identifying the disease before overt symptoms manifest.
• The observed white matter and basal ganglia abnormalities on MRI are key diagnostic indicators.

Implications:

• Multidisciplinary management is essential, with a significant focus on psychological support.
• While no specific curative treatment exists, early diagnosis facilitates supportive care and symptom management.
• Understanding the genetic basis and vascular pathology of CADASIL can inform future therapeutic strategies.