title: Neurologic aspects of 49,XXXXY syndrome.
abstract: 49,XXXXY syndrome is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities, multiple skeletal defects, and genital abnormalities. We describe a 13-year-old boy with 49,XXXXY syndrome, language impairment, seizures, and left-hemisphere magnetic resonance imaging abnormalities and review the distinctive neurologic, cognitive, and behavioral phenotypes associated with this disorder. Finally, we discuss testosterone supplementation in the treatment of this syndrome.
authors.affiliation: Division of Paediatric Neurology, Tor Vergata University of Rome, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Galasso
authors.forename: Carla
authors.initials: C
authors.lastname: Arpino
authors.forename: Francesca
authors.initials: F
authors.lastname: Fabbri
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000782:Aneuploidy; D001921:Brain / Q000473:pathology*; D003072:Cognition Disorders / Q000209:etiology / Q000235:genetics; D004569:Electroencephalography; D006801:Humans; D007806:Language Disorders / Q000209:etiology / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D012640:Seizures / Q000209:etiology / Q000235:genetics*; D025064:Sex Chromosome Disorders / Q000150:complications*; D013577:Syndrome; D013739:Testosterone / Q000627:therapeutic use
chemical_list: D013739:Testosterone