CADASIL
Presentation
Repeated neurological events in a 60 year old female with a family history stroke, depression and dementia.
Patient Data
Age: 60 years
Gender: Female
From the case:
CADASIL
MRI
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Sagittal T1
Widespread small vessel ischaemic 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 ischaemic 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 ischaemic change.
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