title: Costello syndrome and neurological abnormalities.
abstract: Costello syndrome is a rare but increasingly recognized syndrome of unknown etiology. Neurological abnormalities are not rare in this syndrome and consist of structural and electrophysiological disorders. Ventricular dilatation is observed in more than 40% of cases. Other reported cerebral anomalies are brain atrophy, Chiari malformation and syringomyelia. Although there is insufficient data to propose strict guidelines, it seams reasonnable to have a low threshold for neuroimaging, in general, and particularly when neurologic signs or symptoms are present. Screening including cerebral MRI and EEG should be proposed after a diagnosis of Costello syndrome. The frequency of testing in such children should be guided by neurological follow-up.
authors: Department of Medical Genetics, Pellegrin-Children's Universitary Hospital, Bordeaux, France.
authors: Marie-Ange
authors: MA
authors: Delrue
authors: Jean-François
authors: JF
authors: Chateil
authors: Benoit
authors: B
authors: Arveiler
authors: Didier
authors: D
authors: Lacombe
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology* / Q000503:physiopathology; D001139:Arnold-Chiari Malformation / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000473:pathology*; D004562:Electrocardiography; D005145:Face / Q000002:abnormalities; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009421:Nervous System Malformations / Q000175:diagnosis; D011712:Pyramidal Tracts / Q000002:abnormalities; D012868:Skin Abnormalities; D013577:Syndrome; D013610:Tachycardia / Q000473:pathology / Q000503:physiopathology