Figure 4 Pictures and Brain MRI Images of the SG.II.1 and SG.II.4 Babies and US.II.3 and TU1.II.1 Fetuses
(A–D) Photographs of SG.II.1 (A and B) and SG.II.4 (C and D) babies showing their whole bodies (A and C) and a close up of their faces (B and D).
(E–I) Brain MRI images of the elder brother SG.II.1 (top) and the younger brother SG.II.4 (bottom). Axial T2 weighted images showed severe ventriculomegaly, associated with severe thinning of the brain parenchyma (E, F). The brain parenchyma showed absence of normal gyral/sulcal pattern with smooth appearance in keeping with lissencephaly (E, F). Corpus callosum appeared to be absent (E, H). Note the prominent germinal matrix with germinolysis cysts (solid arrows) (F, I). The pons and cerebellum appeared hypoplastic with dilatation of the 4th ventricle (G, H) and Z shaped appearance of the brainstem (solid arrows) (H).
(J–M) Coronal (J), axial (L), and midsagittal (K, M) T2-weighed fetal prenatal MRI images of US.II.3 at 18.5 weeks of pregnancy (J and K) and TU1.II.1 at 28 weeks of pregnancy (L and M) demonstrating a similar imaging pattern including thin parenchyma (lissencephalic aspect), prominent germinal matrix marked by an asterisk, ventriculomegaly, and brain stem and vermian dysgenesis (kinked brain stem and elongated pons).
In summary, we observe a similar brain malformation pattern both prenatally—US.II.3 in (J) and (K), TU1.II.1 in (L) and (M), AL.II.1 (see text), TU1.II.4 (see text), and TU2.II.2 (see text)—and postnatally (SG.II.1 [E–I top] and SG.II.4 [E–I bottom]).