| Literature DB >> 23460375 |
Yves Benabu1, Mathieu Beland, Natasha Ferguson, Bruno Maranda, Renee-Myriam Boucher.
Abstract
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) has always been considered to be a middle-age-onset disease. Diagnosis is confirmed by genetic testing and the finding of the Notch3 mutation or by skin biopsy. Imaging plays a pivotal and crucial role in confirming this diagnosis by identifying white matter changes early in the disease. This can be useful in screening symptomatic patients with a family history of the disease. CADASIL cases have been reported recently in children. We report our experience with CADASIL in a 3-year-old boy.Entities:
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Year: 2013 PMID: 23460375 DOI: 10.1007/s00247-013-2658-5
Source DB: PubMed Journal: Pediatr Radiol ISSN: 0301-0449