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CADASIL

Case contributed by A.Prof Frank Gaillard ◉ ◈

Diagnosis almost certain

Diagnosis almost certain

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 ischemic changes with involvement of the temporal lobes

4 case question available

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.

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