Literature DB >> 23460375

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

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.

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Year:  2013        PMID: 23460375     DOI: 10.1007/s00247-013-2658-5

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  8 in total

1.  Recurrent hemiplegia, normal MRI, and NOTCH3 mutation in a 14-year-old: is this early CADASIL?

Authors:  M R Golomb; D K Sokol; L E Walsh; C K Christensen; B P Garg
Journal:  Neurology       Date:  2004-06-22       Impact factor: 9.910

2.  Genetically confirmed CADASIL in a pediatric patient.

Authors:  Catalina Cleves; Neil R Friedman; A David Rothner; Muhammad S Hussain
Journal:  Pediatrics       Date:  2010-11-15       Impact factor: 7.124

3.  [A case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), diagnosed in the age of puberty].

Authors:  Keiko Okumura; Tomohiko Tsuru; Kouichi Aizaki; Bunshiroh Akikusa
Journal:  No To Hattatsu       Date:  2007-01

4.  Conventional MRI and NOTCH3 gene screening in sporadic CADASIL.

Authors:  M Liguori; R Mazzei; C Ungaro; I L Simone; A Gambardella; I Plasmati; F Fera; U Aguglia; P Lanza; F Bono; L Chiumarulo; F L Conforti; D Consoli; A Quattrone
Journal:  Neurology       Date:  2008-12-03       Impact factor: 9.910

5.  The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland.

Authors:  S S M Razvi; R Davidson; I Bone; K W Muir
Journal:  J Neurol Neurosurg Psychiatry       Date:  2005-05       Impact factor: 10.154

6.  Childhood-onset CADASIL: clinical, imaging, and neurocognitive features.

Authors:  Jessica Hartley; Robyn Westmacott; Jochen Decker; Manohar Shroff; Grace Yoon
Journal:  J Child Neurol       Date:  2010-03-01       Impact factor: 1.987

7.  Structural and metabolic brain abnormalities in preclinical cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy.

Authors:  M L Stromillo; M T Dotti; M Battaglini; M Mortilla; S Bianchi; K Plewnia; L Pantoni; D Inzitari; A Federico; N De Stefano
Journal:  J Neurol Neurosurg Psychiatry       Date:  2008-10-01       Impact factor: 10.154

8.  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male.

Authors:  Jakob Granild-Jensen; Uffe Birk Jensen; Marianne Schwartz; Uffe Stender Hansen
Journal:  Dev Med Child Neurol       Date:  2009-01-29       Impact factor: 5.449

  8 in total

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