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18q− Syndrome: Brain MRI shows poor differentiation of gray and white matter on T2‐weighted images
Author(s) -
Linnankivi Tarja T.,
Autti Taina H.,
Pihko S. Helena,
Somer Mirja S.,
Tienari Pentti J.,
Wirtavuori Kari O.,
Valanne Leena K.
Publication year - 2003
Publication title -
journal of magnetic resonance imaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.563
H-Index - 160
eISSN - 1522-2586
pISSN - 1053-1807
DOI - 10.1002/jmri.10383
Subject(s) - white matter , haploinsufficiency , myelin basic protein , magnetic resonance imaging , locus (genetics) , myelin , pathology , diffusion mri , medicine , biology , gene , radiology , genetics , central nervous system , phenotype
Purpose To study brain MRI findings in patients with 18q− syndrome and to correlate these findings with the results of the molecular breakpoint analysis. Materials and Methods Brain MR images of 17 patients with 18q− syndrome were evaluated. Segregation analysis was performed with 15 microsatellite markers to determine the deletion breakpoints and whether the deletion included the myelin basic protein (MBP) gene. Results One patient had an interstitial deletion of 18q which spared the MBP gene. He was the only one with normal brain MRI. All 16 patients with deletions including the MBP gene had abnormal white matter in MRI. The main finding was poor differentiation of gray and white matter on T2‐weighted images due to increased white matter signal intensity. In addition, measured signal intensity of the white matter was significantly increased in patients compared with controls. Conclusions Poor differentiation of gray and white matter on T2‐weighted images is the most typical MRI finding of the 18q− syndrome. These results support the postulation that abnormal myelination in 18q− syndrome is due to haploinsufficiency at or near the MBP locus. J. Magn. Reson. Imaging 2003;18:414–419. © 2003 Wiley‐Liss, Inc.