Figure 3.

Brain MRI scans of patients 2, 3, 7, and 9. (A–C) Patient 2 at age 2 days; fetal gyral pattern with simplified sulcation, thin corpus callosum with hypoplastic splenium, widened ventricles and cisternae, subependymal pseudocysts, and a cavum septum pellucidum. (D,E) Patient 3 at age 4 days; moderate ventriculomegaly, absence of septum pellucidum, limited volume of the corpus callosum and periventricular white matter, suggestion of cortical malformation of the left temporoparietal region. (F,G) Patient 3 at age 25 months; ventriculomegaly (lateral and third ventricle) and enlarged subarachnoid space due to progressive loss of supratentorial white and gray matter volume; absence of septum pellucidum. (H) Patient 3 at age 28 months; severely enlarged lateral and third ventricle, narrow aqueduct and fourth ventricle, suggesting not only ex vacuo dilatation but dysfunction of cerebrospinal fluid. (I,J) Patient 7 at age 12 years; normal MRI but with persistent cavum septum pellucidum and vacuum vergae. (K,L) Patient 9 at age 15 years; marked ventriculomegaly (especially lateral ventricles).