Brain magnetic resonance imaging findings in 49,XXXXY syndrome

• Type of Material: Article
• Authors: Trevor L. Hoffman, Childrens Hospital of Philadelphia; Arastoo Vossough, Childrens Hospital of Philadelphia; Can Ficicioglu, Childrens Hospital of Philadelphia; Jeannie Visootsak, Emory University
• Language: English
• Date: 2008-06-01
• Publisher: Elsevier: 12 months
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2008 Elsevier Inc. All rights reserved.
• License: Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1016/j.pediatrneurol.2008.03.004
• Title of Journal or Parent Work: Pediatric Neurology
• ISSN: 0887-8994
• Volume: 38
• Issue: 6
• Start Page: 450
• End Page: 453
• Grant/Funding Information: T.L.H. is supported by American Cancer Society Postdoctoral Fellowship PF-006-145-01-DDC.; J. V. is supported by NIH 1 KL RR02 5009.
• Keywords: Science & Technology; 48,XXYY; XXXXY SYNDROME; PHENOTYPE; Clinical Neurology; Neurosciences & Neurology; SEX-CHROMOSOME ANEUPLOIDIES; Pediatrics; Life Sciences & Biomedicine
• Research Categories: Biology, Neuroscience; Biology, Genetics

Abstract

Klinefelter syndrome is a chromosomal disorder characterized by one or more supernumerary X chromosomes, in addition to the normal 46,XY male karyotype. Whereas classic Klinefelter syndrome (47,XXY) occurs in 1:400 births, the most severe Klinefelter variant (49,XXXXY) occurs in only 1:85,000 births. The degree of cognitive impairment, specific skeletal changes, and genital abnormalities in Klinefelter syndrome variants is thought to correlate with the number of additional X-chromosomes present. Magnetic resonance imaging studies in individuals with classic Klinefelter syndrome show smaller brain volumes, but magnetic resonance imaging data are lacking for individuals with rarer and more severe Klinefelter variants. We present case reports and magnetic resonance imaging studies on 3 individuals with 49,XXXXY. All 3 patients exhibited varying degrees of volume loss and abnormalities in white matter. Changes in white matter may represent a specific finding in patients with severe Klinefelter variants such as 49,XXXXY, and karyotype analysis should be considered in patients with unexplained white-matter disease, especially when developmental delay or genital abnormalities are present.