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Neuroradiology |
1 From the Departments of Radiology (R.v.d.B., M.A.v.B.), Clinical Genetics (S.A.J.L.O.), and Neurology (M.D.F., J.H.), Leiden University Medical Center, C2S, Albinusdreef 2, 2333 ZA Leiden, the Netherlands; and Department of Neurology, Rijnland Hospital, Leiderdorp, the Netherlands (J.H.). From the 2002 RSNA scientific assembly. Received October 22, 2002; revision requested January 7, 2003; final revision received April 16; accepted May 20. Address correspondence to R.v.d.B. (e-mail: r.van_den_boom@lumc.nl).
PURPOSE: To depict various brain lesions that have been described in patients who have cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with prospective standardized magnetic resonance (MR) imaging in patients of different age groups.
MATERIALS AND METHODS: Forty patients with CADASIL in different age groups (20–30 years, n = 5; 31–40 years, n = 4; 41–50 years, n = 16; 51–60 years, n = 15) underwent transverse MR imaging with T1-weighted dual fast spin-echo, fluid-attenuated inversion-recovery, and T2*-weighted gradient-echo sequences. Images were analyzed by one neuroradiologist for the presence of areas of hyperintensity, lacunar infarcts, microbleeds, and subcortical lacunar lesions (SLLs) in different anatomic locations. Descriptive statistics were obtained for the presence of MR imaging abnormalities in various brain areas and for distribution according to age.
RESULTS: The mean age of the 40 mutation carriers (21 women, 19 men) was 45 years ± 10 (SD). In patients with CADASIL who were 20–30 years old, characteristic hyperintense lesions in the anterior temporal lobe (100% [five of five]) and SLLs (20% [one of five]) were the only abnormalities seen on MR images. In patients who were 30–40 years old, lacunar infarcts were found in 75% (three of four) of cases. More areas of hyperintensity were noted, and they frequently involved the external capsule, basal ganglia, and brainstem. In patients 41–50 years old, microbleeds were observed in 19% (three of 16). In patients older than 50 years, areas of hyperintensity (100% [15 of 15]), SLLs (73% [11 of 15]), lacunar infarcts (93% [14 of 15]), and microbleeds (47% [seven of 15]) were frequently observed.
CONCLUSION: The four types of brain lesions that are observed in patients with CADASIL were seen in patients of different age groups.
© RSNA, 2003
Index terms: Brain, diseases, 13.78, 13.87 • Brain, infarction • Brain, MR, 13.121411, 13.121412, 13.121413 • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), 10.7229
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