Presentation
Repeated neurological events in a 60 year old female with a family history stroke, depression and dementia.
Patient Data
Widespread small vessel ischemic changes with involvement of the temporal lobes
CADASIL Genetic Test
GENE TESTED: Notch 3 for CADASIL
RESULTS: Positive mutation for Notch 3 gene. This is a previously reported CADASIL mutation in exon 3.
Case Discussion
This case demonstrates fairly typical distribution of ischemic changes in a patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). Note the prominent involvement of the temporal poles, which are usually relatively spared in run-of-the-mill chronic small vessel ischemic change.