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Pediatric Radiology

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01.09.2013 | Case Report

Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old

verfasst von: Yves Benabu, Mathieu Beland, Natasha Ferguson, Bruno Maranda, Renee-Myriam Boucher

Erschienen in: Pediatric Radiology | Ausgabe 9/2013

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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.

Liguori M, Mazzei R, Ungaro C et al (2009) Conventional MRI and NOTCH3 gene screening in sporadic CADASIL. Neurology 72:469–471PubMedCrossRef

Razvi SSM, Davidson R, Bone I et al (2005) The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in the West of Scotland. J Neurol Neurosurg Psychiatry 76:739–741PubMedCrossRef

Hartley J, Westmacott R, Decker J et al (2010) Childhood-onset CADASIL: clinical, imaging, and neurocognitive features. J Child Neurol 25:623–627PubMedCrossRef

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Okumura K, Tsuru T, Aizaki K et al (2007) A case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), diagnosed in the age of puberty. No To Hattatsu 39:49–53PubMed

Granild-Jensen J, Jensen UB, Schwartz M et al (2009) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male. Dev Med Child Neurol 51:754–757PubMedCrossRef

Cleves C, Friedman NR, Rothner AD et al (2010) Genetically confirmed CADASIL in a pediatric patient. Pediatrics 126:e1603–e1607PubMedCrossRef

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Titel: Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old
verfasst von: Yves Benabu
Mathieu Beland
Natasha Ferguson
Bruno Maranda
Renee-Myriam Boucher
Publikationsdatum: 01.09.2013
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Radiology / Ausgabe 9/2013
Print ISSN: 0301-0449
Elektronische ISSN: 1432-1998
DOI: https://doi.org/10.1007/s00247-013-2658-5

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Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old

Abstract

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Springer Medizin

Abstract

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