Midbrain and Hindbrain Involvement in Lissencephaly

J Gordon Millichap
2009 Pediatric Neurology Briefs  
Involvement of the midbrain and hindbrain (MHB) in the various groups of lissencephalies was examined in an MRI study of 111 patients (aged 1 day to 32 years; mean 5 years 4 months) studied at University of California San Francisco, and centers in France, Belgium, and Turkey. The three major groups of lissencephaly (cLIS or LIS type 1; vLIS or variant LIS; and CBSC, cobblestone complex or LIS type 2) showed significant differences in the appearance and severity of associated MHB malformations;
more » ... he least severe MHB malformations occurred with cLIS and the most severe with CBSC lissencephaly. The extent of cerebral lissencephaly was significantly correlated with the severity of MHB abnormalities (P= 0.0029). Based on the data obtained here and that in the literature, a new classification of lissencephalies is proposed: Classic LIS (LIS1, LIS1 mossaicism, DCX (XLIS); Variant LIS (ARX, RELN, VLDLR, ND1, ND2, ND3, TL-LIS; Cobblestone complex (FCMD-Fukuyama type, WWS, MEB; and related MD syndromes (CMD merosin deficiency). (Jissendi-Tchofo P, Kara S, Barkovich AJ. Midbrain-hindbrain involvement in lissencephalies. Neurology Feb 3, 2009;72:410-418).
doi:10.15844/pedneurbriefs-23-3-1 fatcat:j2i3dpv2ezcxzbi33jf6vdlwpe