Cerebral Autosomal Dominant Arteriopathy and Subacute Infarcts with Leukoencephalopathy

Diseases,

Cerebral autosomal dominant arteriopathy and subacute infarcts with leukoencephalopathy (CADASIL)

Diagnosis:

  • Genetic testing: Notch 3 gene mutation on chromosome 19.
  • Clinical including family history plus biopsy (skin or brain)
  • +MRI:
    • Diffuse white matter lesions including frontal lobes, temporal lobes (especially anteriorly), insula, deep & periventricular white matter.
    • T2 hyperintense
    • T1 hypointense

Pathology:

Skin biopsy:

  • Electron microscopy: tunica media of arteries showing granular osmiophilic material GOM between degenerating smooth muscle cells
  • Light microscopy: thickened arterioles with PAS positive granular material in tunica media
  • Immunohistochemistry Notch 3 positive smoothe muscle cells.

Brain biopsy:

  • Parenchymal arteries are involved. Thickened arterioles with PAS positive granular material in tunica media. Necrosis