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From the Neuroradiology section (P.J.-T., S.K., A.J.B.), Department of Radiology, University of California, San Francisco, CA; Service de Neuroradiologie (P.J.-T.), Hôpital R. Salengro, Centre Hospitalier Régional de Lille, France; Neuroradiology section (P.J.-T.), Department of Radiology, Erasme Hospital, Brussels, Belgium; and Department of Radiology (S.K.), Faculty of Medicine, Kirikkale University, Turkey.
Address correspondence and reprint requests to Dr. Patrice Jissendi-Tchofo, Radiology Department, Erasme Hospital, Route de Lennik 808, B-1070 Brussels, Belgium jissendi{at}gmail.com
Objectives: To determine the involvement of the midbrain and hindbrain (MHB) in the groups of classic (cLIS), variant (vLIS), and cobblestone complex (CBSC) lissencephalies and to determine whether a correlation exists between the cerebral malformation and the MHB abnormalities.
Methods: MRI scans of 111 patients (aged 1 day to 32 years; mean 5 years 4 months) were retrospectively reviewed. After reviewing the brain involvement on MRI, the cases were reclassified according to known mutation (LIS1, DCX, ARX, VLDLR, RELN, MEB, WWS) or mutation phenotype (LIS1-P, DCX-P, RELN-P, ARX-P, VLDLR-P) determined on the basis of characteristic MRI features. Abnormalities in the MHB were then recorded. For each structure, a score was assigned, ranging from 0 (normal) to 3 (severely abnormal). The differences between defined groups and the correlation between the extent of brain agyria/pachygyria and MHB involvement were assessed using Kruskal–Wallis and 
2 McNemar tests.
Results: There was a significant difference in MHB appearance among the three major groups of cLIS, vLIS, and CBSC. The overall score showed a severity gradient of MHB involvement: cLIS (0 or 1), vLIS (7), and CBSC (11 or 12). The extent of cerebral lissencephaly was significantly correlated with the severity of MHB abnormalities (p = 0.0029).
Conclusion: Our study focused on posterior fossa anomalies, which are an integral part of cobblestone complex lissencephalies but previously have not been well categorized for other lissencephalies. According to our results and the review of the literature, we propose a new classification of human lissencephalies.
Abbreviations: A = autosomal; ACC = agenesis of corpus callosum; AD = autosomal dominant; AP = anteroposterior; AR = autosomal recessive; CBL = cerebellar; CBSC = cobblestone complex; cLIS = classic lissencephaly; CMD = congenital muscular dystrophy; CSZ = cell-sparse zone; DV = dorsal–ventral; FCMD = Fukuyama congenital muscular dystrophy; IVH = inferior vermis hypoplasia; LV = lateral ventricle; m = medulla; M = midbrain; MDS = Miller–Dieker syndrome; MEB = muscle–eye–brain; MHB = midbrain and hindbrain; MR = magnetic resonance; ND = not determined; P = pons; RC = rostrocaudal; SCBH = subcortical band heterotopia; SELH = subependymal linear heterotopia; V = vermis; vLIS = variant lissencephaly; WI = weighted image; WWS = Walker–Warburg syndrome; XLD = X-linked dominant; XLR = X-linked recessive.
Supplemental data at www.neurology.org
Editorial, page 394
e-Pub ahead of print on November 19, 2008, at www.neurology.org.
Supported by R37 NS035129 from the National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD.
Disclosure: The authors report no disclosures.
Received March 7, 2008. Accepted in final form July 16, 2008.
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