CADASIL

Case contributed by A.Prof Frank Gaillard

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
MRI

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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Case information

rID: 22131
Case created: 13th Mar 2013
Last edited: 6th Dec 2016
Inclusion in quiz mode: Included

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