CADASIL

Discussion:

Congenital Autosomal Dominant Arteriopathy with Subcortical Infracts and Leukoencephalopthy (CADASIL)

  • Hereditary condition due to mutation in the NOTCH-3 Gene on chromosome 19
  • Results in small vessel disease and stroke in young patients
  • Imaging findings of leukoaraiosis and small infarcts
  • Involves external capsules, paramedian fontal lobes and anterior temporal lobes, the latter considered relatively specific for the disease

Other imaging features that me be seen in CADASIL include:

  • Micro-hemorrhages, which occur more frequently than in patients without the disease, but occur in many locations (white matter, deep grey nuclei, brainstem, cortex) making them a non specific finding
  • Iron accumulation in putamen and caudate nuclei
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