CADASIL

Case contributed by RMH Report Writing

Presentation

Multiple neurological events in a relatively young man, also memory loss and early onset dementia.

Patient Data

Age: 50-year-old
Gender: Male
MRI

MRI Brain

Confluent bright flair signal and periventricular white matter and centrum semiovale, as well as foci of similar signal in the pons, commonly reflect underlying chronic small vessel ischaemia.

The extent and severity of the disease are marked for a patient of this age. Old lacunar infarct seen in the right pons, with suspected previous microhemorrhage within it. Multiple old lacunar infarcts also were seen in basal ganglia and centrum semiovale bilaterally.

Tiny foci of diffusion restriction seen in the left parietal subcortical white matter in the representing an acute infarct.

2.5mm bulbous origin of the right ophthalmic artery. MRA unremarkable otherwise.

 

Case Discussion

The important finding is the involvement of both temporal lobes. These are commonly spared in non-CADASIL cases.

Case Discussion

Congenital Autosomal Dominant Arteriopathy with Subcortical Infracts and Leukoencephalopathy (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 frontal lobes and anterior temporal lobes, the latter considered relatively specific for the disease

Other imaging features that may 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: 36943
Case created: 19th May 2015
Last edited: 13th Nov 2016
Inclusion in quiz mode: Included

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