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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR findings
S J Skehan1, M Hutchinson, D P MacErlaine
1Department of Diagnostic Imaging, St Vincent's Hospital, Dublin, Ireland.
Purpose:
To describe the MR appearances of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Methods:
MR examinations were performed on 15 family members (both symptomatic and asymptomatic). The phenotype was defined by the presence of abnormalities on MR scanning in genetically susceptible individuals.
Results:
There were 10 abnormal and 5 normal MR scans. Three subjects with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy had moderate or severe neurologic deficits, 4 had transient focal neurologic symptoms, 2 had migraine, and 1 was asymptomatic (all these had abnormal MR scans). Only 1 subject with migraine had a normal MR. Four other asymptomatic family members had normal scans. Two main abnormalities emerged. First, small, linear, and punctate lesions were identified in the periventricular white matter, brain stem, basal ganglia, and thalamus. Second, large confluent patches of abnormal tissue were present in subcortical regions that often were symmetric and had a tendency to occur in the temporal lobes.
Conclusions:
The diffuse myelin loss and small infarcts that cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy are well demonstrated with MR. Presymptomatic abnormalities can be seen on MR.
Insights
Magnetic Resonance (MR) imaging reveals characteristic abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). These MR findings can detect presymptomatic changes in affected individuals.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disorder.
- It is characterized by recurrent ischemic strokes and progressive cognitive decline.
- Understanding its neuroimaging features is crucial for early diagnosis and management.
Purpose of the Study:
- To delineate the specific Magnetic Resonance (MR) imaging appearances of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
- To correlate MR findings with clinical presentation and genetic susceptibility within affected families.
Main Methods:
- MR examinations were conducted on 15 family members, encompassing both symptomatic and asymptomatic individuals.
- The phenotype was established by identifying MR abnormalities in genetically predisposed individuals.
Main Results:
- Ten out of fifteen subjects exhibited abnormal MR scans, while five had normal scans.
- Key MR findings included small, punctate lesions in the periventricular white matter, brain stem, basal ganglia, and thalamus.
- Additionally, large, symmetric subcortical patches of abnormal tissue, often in the temporal lobes, were observed.
Conclusions:
- Magnetic Resonance (MR) imaging effectively demonstrates the diffuse myelin loss and small infarcts characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
- MR imaging can identify abnormalities even before the onset of clinical symptoms, highlighting its utility in presymptomatic detection.