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