CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)
- Background:
- Rare hereditary cause of infarcts in younger patients
- Small-vessel disease due to progressive degeneration of the smooth muscle cells in blood vessels
- Causative agent of degeneration is mutation in the NOTCH3 gene at the short arm of chromosome 19
- Prudent to exclude traditional risk factors of stroke and migraines, because CADSIL patients may present with migraine aura.
- Generally, the cerebral cortex is spared, and subcortical lacunar infarcts are accompanied by abnormal white matter (WM).
- Clinical Presentation:
- Clinical presentation may vary.
- Typical presentation is migraine with aura or transient weakness or focal neurologic deficit
- Key Diagnostic Features:
- Characteristic subcortical lacunar infarcts on background of chronic microangiopathic ischemic changes
- White matter of the anterior temporal poles and superior paramedian bilateral frontal lobes are characteristically affected.
- Differential Diagnosis:
- MELAS: Often bilateral, symmetric, cortical, and subcortical involvement
- CNS vasculitis: DSA or CTA will demonstrate vascular abnormalities.
- Chronic hypertension: Diffuse leukoencephalopathy with microhemorrhages (basal ganglia, pons, cerebellum)
- Amyloid angiopathy: Diffuse leukoencephalopathy with macro/microhemorrhages centered at the cortical/subcortical junction, with sparing of the brain stem
- Treatment:
- No specific treatment
- Antiplatelet medications may help prevent further strokes.
