title: Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old.
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.
authors: Diagnostic Radiology, Hopital Cité de la Santé, Québec, Canada. yvesbenabu@videotron.ca
authors: Yves
authors: Y
authors: Benabu
authors: Mathieu
authors: M
authors: Beland
authors: Natasha
authors: N
authors: Ferguson
authors: Bruno
authors: B
authors: Maranda
authors: Renee-Myriam
authors: RM
authors: Boucher
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D046589:CADASIL / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000000981:diagnostic imaging / Q000473:pathology*; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D014057:Tomography, X-Ray Computed / Q000379:methods
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch