Fig. 1

Initial MRI at the age of 2.5 months performed after the first partial seizure. Sagittal T1-weighted MRI image demonstrates cerebellar hypoplasia with an emphasis on the vermis and tonsils (arrow) and consecutive enlargement of the cerebrospinal fluid (CSF) spaces. The corpus callosum has a normal shape and size (thick arrow) (a). Transversal T1-weighted MRI image shows normal myelination within the internal capsule concealing the punctuate high signal (b) corresponding to the low signal areas in the T2-weighted (c) and T2*-weighted images within the thalami (d). These areas of signal abnormality correspond to calcifications. Also note the abnormal signal intensity in the frontal lobes (b, c) corresponding to leukencephalopathic areas also seen in the follow ups. At this point there was no administration of gadolinium contrast material