Summary: A 42 year old female presents with 5 year history of
migraines associated with auras.
CT images demonstrate ill-defined periventricular white
matter hypodensity as well as hypodensity involving the external capsules and
subcortical white matter of the anterior temporal lobes. A focal hypodensity is
present in the left thalamus.
T2 weighted and FLAIR MRI images demonstrate abnormal
hyperintensity within the subcortical and periventricular matter with
involvement of the anterior temporal lobes, external capsules, and
thalami. An old infarct is noted in the
left thalamus and there are chronic ischemic changes in the brainstem. Contrast
enhanced T1 weighted images demonstrate no abnormal enhancement. DWI images
demonstrate no signal abnormalities.
CADASIL (Cerebral Autosomal Dominant Arteriopathy with
Subcortical Infarcts and Leukoencephalopathy) is an inherited disorder which
involves a mutation on chromosome 19q12, affecting the Notch 3 gene. The
mutation results in an angiopathy of the small and medium sized arteries
resulting in luminal narrowing and decreased cerebral blood flow. Patients generally present between the ages of
30 and 50, most often with recurrent transient ischemic attacks and strokes
involving multiple vascular territories.
Approximately 20 to 40% of patients will present with migraines, often with
auras. Migraines also tend to involve a
younger population with CADASIL. Almost
all patients eventually progress to dementia characterized by executive
dysfunction as well as changes in memory and attention. Most patients will also develop behavioral
disturbances, commonly including depression, sleep disturbances, apathy, and
CT is often the initial examination performed due to ease
and availability. CT will demonstrate
nonspecific hypodense lesions within the subcortical white matter and basal
ganglia. MRI is required for further
evaluation and classically demonstrates hyperintense lesions within the white
matter which may be small and discrete or large and confluent. Involvement of the anterior temporal lobes
is highly sensitive and specific for CADASIL.
Other commonly involved locations include the frontal and parietal lobes
as well as the external capsule. Lacunar
infarcts of varying ages are also often seen, most commonly involving the basal
No specific therapy is available for treatment of CADASIL.
- Liem MK et al: Cerebral autosomal dominant arteriopathy with
subcortical infarcts and leukoencephalopathy: progression of MR abnormalities
in prospective 7-year follow-up study. Radiology. 249(3):964-71, 2008.
- Chabriat H et al: Cadasil. Lancet Neurol. 8(7):643-53, 2009.
- Auer DP et al: Differential lesion patterns in CADASIL and
sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with
statistical parametric group comparison. Radiology. 218(2):443-51, 2001.