Inflammatory-like presentation of CADASIL: a diagnostic challenge
Open Access
- 21 August 2012
- journal article
- case report
- Published by Springer Science and Business Media LLC in BMC Neurology
- Vol. 12 (1), 78
- https://doi.org/10.1186/1471-2377-12-78
Abstract
CADASIL is an autosomal dominant genetic leukoencephalopathy linked to mutations in the Notch3 gene. In rare cases, widespread brain lesions on T2 MRI mimicking multiple sclerosis are observed. From a national registry of 268 patients with adult-onset leukodystrophy, we identified two patients with an atypical presentation of CADASIL without co-occurrence of another systemic disease.Keywords
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