Fig. 1

MRI results of four patients. (A-C) Patient 2.(A) Axial T2-weighted image shows cerebellar vermis hypoplasia, a deepened interpeduncular fossa and thickened, elongated superior cerebellar peduncles (arrow), presents a “molar tooth sign”; (B) Enlargement of the fourth ventricle, “bat-wing”(arrow); (C) Parasagittal T1-weighted image showed thickened, elongated, and horizontally oriented superior cerebellar peduncles (arrow); (D-F) Patient 3. (D) Axial T1-weighted image (7 months) shows a blurry deepened interpeduncular fossa and thickened, elongated superior cerebellar peduncles (arrow); (E) Axial T1-weighted image (3 years) shows vermian hypoplasia, thickened, elongated superior cerebellar peduncles (arrow); (F) Axial T2-weighted image (3 years) shows a “bat-wing” of the fourth ventricle; (G-I) Patient 4. (G) Axial T1-weighted image shows slight vermian dysplasia and thin but elongated cerebellar peduncles (arrow); (H) Axial T2-weighted image shows thickened cortex, sparse gyri, and shallow sulci especially in the bilateral frontotemporal lobes (arrow); (I) Parasagittal T1-weighted image shows cerebellar hypoplasia, thin, elongated and horizontally oriented cerebellar peduncles (arrow); (J-L) Patient 4. (J-K) Axial T1 and T2-weighted image shows thin and elongated cerebellar peduncles (arrow); (L) The subarachnoid space is widened bilaterally in the frontotemporal regions (arrow), the ventricular system is enlarged, and the volume of white matter is less than peers, suggesting white matter dysplasia