Fig. 2

MRI findings in PI3K-AKT-mTOR pathway-associated megalencephaly. T2-weighted axial images (a, b, d, e, g, h, j-l), T1-weighted coronal image (c), T2-weighted images (f, i) of patients (a-c, Patient 1 with an AKT3 mutation [p.(N229S)] at 2 years of age; d-f, Patient 2 with a PIK3R2 mutation [p.(G373R)] at 2 years; g-i, Patient 3 with a PIK3R2 mutation [p.(G373R)] at 6 years; j, Patient 4 with a PTEN mutation [p.(Q214*)] at 2 years; k, Patient 5 with a PTEN mutation [p.(L247S)] at 1 year and 9 months; l, Patient 8 without mutation at 4 years. In Patient 1–3, ventriculomegaly (b, e, h), bilateral polymicrogyria that appears to be most severe in the perisylvian regions but is also present in other regions (a, c, d, f, g, i), and an abnormally high intensity signal from white matter (b, e, h) were observed. The patient with PTEN mutations showed no abnormalities (j, k). Patient 8, without mutation, showed only mild ventriculomegaly (l)