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Results: 3

1.

Figure. From: Midbrain-hindbrain involvement in lissencephalies.

Figure 2 Cobblestone complex in patient 107 with WWS phenotype
(A) Coronal T2-weighted image (WI) showing typical magnetic resonance appearance of cobblestone complex with irregular inner layer of ectopic neurons (black arrowheads) and overmigrated neurons at the surface of the cortex (white arrowheads) and between both fibroglial bundles crossing the white matter radially, hydrocephalus, and profound hypomyelination. Midbrain and hindbrain (white stars on cerebellar hemispheres) are severely hypoplastic with near total absence of the vermis and pontine midline cleft (black arrow). (B) Sagittal T1WI showing the characteristic dysplastic large tectum (arrowheads), deformity of the mid-hindbrain junction (pontomedullary “kink,” white line), and near total absence of the vermis with very hypoplastic cerebellar hemisphere (white star).

Patrice Jissendi-Tchofo, et al. Neurology. 2009 February 3;72(5):410-418.
2.

Figure. From: Midbrain-hindbrain involvement in lissencephalies.

Figure 3 Not-determined lissencephalies
(A and B) Patient 67 classified as not determined (ND). Axial T2-weighted image (WI) (A) shows entire brain agyria with very thin outer cortex layer (black arrows) and undulating gray matter heterotopia (white arrows) surrounding the enlarged lateral ventricles (LVs). Sagittal T1WI (B) displays callosal hypogenesis with small posterior genu (white arrows) but absent body (arrowheads), with small midbrain (M), pons (P), and medulla (m), and enlarged dysplastic vermis. (C and D) Patient 78 classified as ND. Axial T2WI (C) shows agyria of the entire brain with subependymal linear gray matter heterotopia bilaterally (white arrowheads) and marked ventriculomegaly in this microcephalic patient. Sagittal T1WI (D) displays callosal agenesis and extremely hypoplastic midbrain (M), pons (P), and medulla (m). The entire cerebellum is nearly absent.

Patrice Jissendi-Tchofo, et al. Neurology. 2009 February 3;72(5):410-418.
3.

Figure. From: Midbrain-hindbrain involvement in lissencephalies.

Figure 1 Classic and variant lissencephalies
(A and B) Patient 2 with LIS1 mosaicism. Axial T2-weighted image (WI) (A) shows a pachygyria with a gradient that is worse posteriorly. The inner cortex is thick and separated from the outer thin layer (black arrowheads) by a cell-sparse zone (white arrowheads) that has signal intensity of myelinated white matter with some areas of hyperintensity. Sagittal T1WI (B) shows the smooth surface of the brain involving the posterior frontal, parietal, and occipital cortices (white arrowheads). In the posterior fossa, midbrain and hindbrain appear normal. The vermis is normal with visible primary fissure (short arrow) and prepyramidal fissure (long arrow) defining three parts in equal proportions. (C and D) Patient 34 with DCX mutation. Axial T1WI (C) shows a thick cortex with few broad gyri (white arrowheads) that are worse anteriorly. On the sagittal T1WI (D), the inferior vermis (arrowheads) appears small compared with the anterior vermis (limited posteriorly by the primary fissure [arrow]). The other posterior fossa structures are normal. (E) Patient 61 with presumed RELN mutation having the same brain magnetic resonance features as his female sibling (patient 59) in whom RELN mutation was found. On sagittal T1WI, pachygyria is worse anteriorly, the midbrain (M) is small, and the pons (P) is hypoplastic, resulting in the flattening of its ventral aspect (double arrows). The medulla (m) is mildly hypoplastic, whereas the vermis is severely hypoplastic. (F) Patient 54 with ARX mutation. Sagittal T1WI shows agenesis of the corpus callosum with prominent anterior commissure (arrowheads), small basal ganglia (arrow), hypoplastic midbrain (M), pons (P) and medulla (m), and hypoplastic and dysplastic vermis (V). (G) Patient 89, from a Hutterite family, having dysequilibrium syndrome and VLDLR mutation. Sagittal TIWI shows same features of midbrain and hindbrain involvement as in RELN mutation (A), including a severe hypoplasia of the vermis (V) and cerebellar hemispheres.

Patrice Jissendi-Tchofo, et al. Neurology. 2009 February 3;72(5):410-418.

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