Figure 2

Details of the neuroimaging findings from selected patients. a, b: Case ID50, 52 months (OFD1 mutation: 337 C > T; Q113X). a) Sagittal TSE T2-weighted image: a) vermis and pons hypoplasia (arrow) with anomalous elongation of the medulla, slight swelling of the tectum and aqueductal stenosis are shown together with an enlargement of the fourth ventricle and of the posterior fossa. An anomalous protuberance on the dorsal surface of the medulla is also evident (arrow). b) Axial IR T1-W image: dysmorphism of the left side of the medulla that is bigger than the controlateral one (arrow). Also note the hypoplasia of the cerebellar hemispheres with anomalous orientation of the folia on the right side. c, d, e: Case ID39, 8-year-old (OFD1 mutation: 290 A > G; E97K). c) Sagittal TFE T1weighted 3D image: marked hypogenesis, anticlockwise rotation (arrow) and dysmorphism of the vermis and flat ventral pons (arrow). The fourth ventricle and the posterior fossa are both enlarged. d) Axial TFE T1-weighted 3D image: little protuberance on the right side of the pons (arrow). e) Axial TFE T1 weighted image: typical “molar tooth sign” (square) characterized by thickening and horizontalization of the superior cerebellar peduncles. A mild hypointense dilatation of a Virchow-Robin space is present in the middle of the midbrain. The anomalous orientation of the cerebellar folia is also visible in the superior part of the cerebellum. f, g: Case ID13, 13-year-old (OFD1 mutation: 247CAA > TAA; Q83X). f) Sagittal TFE T1-weighted 3D image: abnormal dilatation of the primary cerebellar fissure and hypoplasia of the declive lobule (arrow). g) Axial TSE T2-weighted image: enlargement of the right biventer lobule with abnormal orientation of the folia (arrows).