Figure 2.

MRI findings in selected patients showing progressive cerebellar and cerebral atrophy. (1) Patient 1 at 9 months (1A) and 17 months (1B and C) showing progressive loss of white matter, extremely thin corpus callosum, and cerebellar atrophy. The red arrows delineate vermian atrophy. (2) Patient 2 at 10 months (2A and D), 23 months (2B and E), and 4 years and 7 months (2C and F) showing progressive atrophy of the entire brain, with early cerebral atrophy (mainly white matter) followed by very severe cerebellar (nuclei > vermis > hemispheres, and anterior vermis earlier than posterior vermis) and optic nerve atrophy (not shown). Midbrain and pontine atrophy occur simultaneously with cerebellar atrophy. (5) Patient 5 at 22 months (5A), 36 months (5B), and 15 years (5C) of age showing mildly diminished white matter with thinning of the corpus callosum, moderate ex vacuo enlargement of the 4th ventricle and severe cerebellar atrophy including the cerebellar hemispheres and deep nuclei, rostra > caudal vermis, and superior cerebellar peduncles. For comparison, we have shown a mid-sagittal T1-weighted image showing a large corpus callosum and intact cerebellar vermis and a axial T2-weighted image showing no volume loss with normal sized ventricles and no increased extra-axial space.