RT Journal Article
SR Electronic
T1 Diffusion Imaging of the Congenitally Thickened Corpus Callosum
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 660
OP 665
DO 10.3174/ajnr.A3245
VO 34
IS 3
A1 N.K. Rollins
YR 2013
UL http://www.ajnr.org/content/34/3/660.abstract
AB SUMMARY: This report presents 4 subjects with congenital segmental callosal thickening, an uncommon malformation studied with MR imaging and DTI. Medical records were reviewed for genetic testing and neurodevelopmental status. Three subjects had profound developmental delay; 3 had seizures. MR imaging showed segmental thickening of the rostral and/or midcallosal body. Associated anomalies included polymicrogyria in 1 patient and optic hypoplasia in 1. DTI showed that the segmental thickening was due to anomalous longitudinal supracallosal fibers visually separable from the paired cingulum in 3 patients; in 1 patient, the cingulum was poorly formed. Genetic testing was negative for Fragile X syndrome. Microarray DNA analysis showed 3 copy losses (2q27.3, 3p21.31, 7q21.11) and 1 copy gain (8p11.23) in 1 patient, while testing in the other subject was negative for losses or gains. Potential explanations for the anomalous fibers include heterotopic cingulum, an enlarged indusium griseum, and aberrant callosal fibers. FAfractional anisotropyIGindusium griseumM-CMTCmarmorata telangiectatica congenita syndromeNFneurofibromatosis