RT Journal Article
SR Electronic
T1 Developmental Differences of the Major Forebrain Commissures in Lissencephalies
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1602
OP 1607
DO 10.3174/ajnr.A2133
VO 31
IS 9
A1 S. Kara
A1 P. Jissendi-Tchofo
A1 A.J. Barkovich
YR 2010
UL http://www.ajnr.org/content/31/9/1602.abstract
AB BACKGROUND AND PURPOSE: Changes of the major forebrain commissures in lissencephaly have not been systematically studied. We investigated the developmental differences of the commissures in patients with varying types of lissencephaly to determine whether specific commissural features may help in distinguishing lissencephaly phenotypes. MATERIALS AND METHODS: MR imaging of 124 patients was retrospectively reviewed. Patients were classified as having cLIS, vLIS, and CBSC, according to cortical phenotype; few patients had genetic diagnoses. Abnormalities of the CC, AC, and HC were recorded, and the overall shape was regarded as hypogenetic, hypoplastic, dysmorphic, a thin flat callosal body with a vertical splenium, and a convex upward callosal body, compared with age-matched controls. Correlations between commissural characteristics and cortical patterns were analyzed by using the Monte Carlo simulation of χ2, extension to m × n table, and Fisher exact tests as appropriate (P < .05). RESULTS: Patients were classified as having cLIS (57.4%), vLIS (38.4%), or CBSC (4.2%). The most common callosal developmental anomaly was hypogenesis with an absent rostrum, a small inferior genu, and a small splenium. An angled (90°) splenium was found to be significantly associated with cLIS, as was an excessively convex upward callosal body with VLDLR. ACC with an enlarged AC was found in all cases of ARX. CONCLUSIONS: Specific patterns of the commissure anomalies were associated with certain types of lissencephaly. Callosal anomalies were more common than those of the AC or HC. Developmental variations of commissures may be useful as an imaging criterion in differentiating the groups of lissencephalies and may give insight into the processes causing these malformations. ACanterior commissureACCagenesis of the CCARXlissencephaly with ARX mutationARX-XLAGlissencephaly with ARX mutation, and an absent callosum, ambiguous genitaliaCBSCcobblestone complexCCcorpus callosumcLISclassic lissencephalyCMDcongenital muscular dystrophiesDCXlissencephaly with mutated DCX geneFCMDFukuyama CMDFKRPlissencephaly with FKRP mutationHChippocampal commissureLARGElissencephaly with LARGE mutationLIS1lissencephaly with mutated LIS1 geneNDnot determined(p)presumedPOMT1, POMT2, and POMGnT1lissencephalies with POMT1, POMT2, POMGnT1 mutationsRELNlissencephaly with RELN mutationTUBA1Alissencephaly with TUBA1A mutationVLDLRlissencephaly with VLDLR mutationvLISvariant lissencephaly