Fig. 1

Neuroimaging findings in affected siblings (A-C: Proband, D-F: Probands’s brother). (a-b) MRI images (a: axial Turbo spin echo T2 sequence, b: axial post-gad 3D-T1 images) showing a a cortical development anomaly in left fronto-opercular frontal lobe (white arrow), where the cortex has a polymicrogyria; close to this cortical malformation, the post-gad T1 image b shows a small artero-venous shunt (white circle). In the left, posterior temporal lobe, axial T2 image a show an abnormal thickness of the cortex (white dotted arrow). c Digital angiography of pulmonary arteries shows multiple pulmonary arteriovenous malformations in the left lower lobe. d-f brain MRI Images d: axial Fluid attenuated inversion recovery FLAIR T2 image, f: coronal. FLAIR T2 image) showing a focal blurring in the left frontal lobe, between the medium and superior frontal gyrus, with a transmantle sign (white arrows) reaching the frontal horn of the lateral ventricle, as a cortical focal dysplasia, type II. e Chest CT study shows a pulmonary arteriovenous malformation in the right lower lobe