Neurologic aspects of 49,XXXXY syndrome.
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.
Galasso
Cinzia
C
Division of Paediatric Neurology, Tor Vergata University of Rome, Italy.
Arpino
Carla
C
Fabbri
Francesca
F
Curatolo
Paolo
P
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
D013739:Testosterone