Fig. 4

Imaging features of M035, M084 and M038 probands. A: MRI Fluid-attenuated inversion recovery (FLAIR) images. B: 3D Time-Of-Flight MR angiography (MRA). C and D: Digital subtracted conventional angiography. M084 proband: A: old cortical ischemic lesion (star) in the right MCA territory. B: Absence of right MCA (arrow). C (profile view, early contrast opacification time): Occlusion of the terminal right ICA downstream to the origin of posterior communicating artery (arrow) associated with bilateral deep collateral vascular network (arrowhead). D (profile view, late contrast opacification time): Note the presence of leptomeningeal collaterals from distal branches of the fetal right PCA participating in the blood supply of right MCA territory (dotted circle). M035 proband: A: Ischemic lesions (stars) in the right and left MCA territories; arterial hyperintensities (arrows) suggestive of Ivy sign. B: absence of the terminal segment of both ICAs and of the proximal segment of both MCAs (white arrows), ACAs (thin arrows) and PCAs (black arrows). C (frontal view): Steno-occlusive changes of the terminal ICAs bifurcation (arrows) associated with moyamoya vessels (arrowheads). D (profile view): Occlusion of both PCAs in their proximal segment (arrow), also associated with a collateral vascular network (arrowhead). M038 proband: A: Ischemic lesions (stars) in the right and left MCA territories. B: stenosis of the terminal part of right ICA (arrowhead), occlusion of the proximal segment of right MCA (arrow), and of left ACA (thin arrow). Terminal part of left ICA and proximal part of left MCA are fed by the left posterior communicating artery (black arrow). C (frontal view) and D (profile view): Multistage stenosis of the terminal part of right ICAs (arrows) associated with moyamoya vessels (arrowheads)