CADASIL

Case contributed by Prof. Stephen Stuckey

Presentation

Personality change.

Patient Data

Age: 40 years
Gender: Female
Modality: MRI

Supratentorial T2 white matter hyperintensity with particular involvement of the anterior temporal lobes. Region of right anterior temporal lobe gliosis. 

Case Discussion

Congenital Autosomal Dominant Arteriopathy with Subcortical Infracts and Leukoencephalopthy (CADASIL)

  • Hereditary condition due to mutation in the NOTCH-3 Gene on chromosome 19
  • Results in small vessel disease and stroke in young patients
  • Imaging findings of leukoaraiosis and small infarcts
  • Involves external capsules, paramedian fontal lobes and anterior temporal lobes, the latter considered relatively specific for the disease

Other imaging features that me be seen in CADASIL include:

  • Micro-haemorrhages, which occur more frequently than in patients without the disease, but occur in many locations (white matter, deep grey nuclei, brainstem, cortex) making them a non specific finding
  • Iron accumulation in putamen and caudate nuclei
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Case Information

rID: 30361
Case created: 5th Aug 2014
Last edited: 29th Sep 2015
Inclusion in quiz mode: Included

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