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Neurologic Aspects of 49,XXXXY Syndrome

Division of Paediatric Neurology "Tor Vergata" University Rome

Carla Arpino, MD

Division of Paediatric Neurology "Tor Vergata" University of Rome

Francesca Fabbri, MD

Division of Paediatrics "Tor Vergata" University of Rome

Paolo Curatolo, MD

Division of Paediatric Neurology "Tor Vergata" University of Rome Rome, Italy, curatolo{at}uniroma2.it.

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 associa t e d w i t h t h i s d i s o r d e r. F i n a l l y, w e d i s c u s s testosterone supplementation in the treatment of this syndrome. (J Child Neurol 2003;18:501—504).

Journal of Child Neurology, Vol. 18, No. 7, 501-504 (2003)
DOI: 10.1177/08830738030180071001


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