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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.
April 21, 2016
A young woman with diplopia and vertical nystagmus
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