Costello syndrome and neurological abnormalities.
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.
Delrue
Marie-Ange
MA
Department of Medical Genetics, Pellegrin-Children's Universitary Hospital, Bordeaux, France.
Chateil
Jean-François
JF
Arveiler
Benoit
B
Lacombe
Didier
D
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