Figure 2.

Neuroimaging findings at 13 years of age. (A) CT scan of the brain showing cerebral atrophy and ventricular enlargement. (B) Sagittal T1-weighted image of the brain showing ventricular enlargement, thinning of the corpus callosum with foci in the posterior body of the corpus callosum (arrow). (C–E) Axial T2-weighted images of the brain showing signal changes in the periventricular and frontal white matter, the putamen, caudate nucleus, corpus callosum, and anterior limb of the internal capsule. (F–I) Within the brainstem: (F) no signal abnormality was observed in the midbrain; (G) superior cerebellar peduncle (yellow arrow); (H) inferior cerebellar peduncle (black arrow); (I) T2-axial images of the medulla showing spotty high signal in the medulla (arrows), however pyramids and medial lemniscus decussation were preserved. (J,K) T2-axial image of upper cervical spinal cord showing high intensity area in the central part of the spinal cord (arrow).