Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Updates to Study Attributes
Extensive confluent deep and subcortical cerebral white matter hypo-attenuating changeshypoattenuation involving bilateral periventricular areas, cerebellum, external capsule and the temporal lobes.
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MRI shows diffuse, confluent hyperintensities white matter hyperintensities on T2/FLAIR that involve bilateral periventricular white matter, centrum semiovale, cerebellum, corpus callosum, external capsulecapsules and the anterior part of the temporal lobes. The subcortical U-fibres, basal ganglia and thalamus arethalami are spared.
T2* images show punctate hemosiderin deposits in the right centrum semiovale, characteristic ofrepresenting old microbleeds.
There are scattered lesions with T2/FLAIR hyperintense rim in the subcortical white matter and basal ganglia, which have isointense to CSF on all sequences, suggestive of oldchronic ischaemia.
There wasis no abnormal post-contrast enhancement (not shown).
TheParenchymal volume loss of the parenchymal brain with marked prominence of the sulci is, consistent with cerebral atrophy.
Updates to Case Attributes
MRI shows widespread confluent white matter hyperintense inon T2/Flair/FLAIR, mainly affecting the anterior temporal lobe,lobes and external capsule;capsules, as well as lacunar, and subcortical infarcts, and and microhaemorrhages. The imaging findings in a young patient with a significant family history is in keeping with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
The differential diagnosis includes Binswanger's disease, MELAS, Susac syndrome, and CNS vasculitis.
In Binswanger's disease, the white matter lesions are usually small, commonly grouped around the frontal and occipital horns and in the centrum semiovale, along with cerebral atrophy and lacunar infarcts. Binswanger's disease is nonhereditary, and the patient has a history of hypertension.
MELAS hasshows multiple infarcts of varying ages, and in differingdifferent arterial territories,. MR spectroscopy may demonstrate elevated lactate. The patient may develop muscle weakness.
Susac syndrome is a rare syndrome typically affecting young to middle-aged women that are. It is clinically characterised by the triad of acute or subacute encephalopathy, bilateral sensorineural hearing loss, and branch retinal arterial occlusions. The lesions tend to be multiple, small white matter lesions that have a predilection for the corpus callosum.
In CNS vasculitis, MRI is composed ofshows non-specific findings. The cerebral arteries may demonstrate a beaded appearance and contrast enhancement of the vessel wall.