Figure 10.

Neuroimaging finding in cerebrotendinous xanthomatosis (A–D) and spinal xanthomatosis (E–H). T2 axial images (A–C) in a patient with progressive cerebellar ataxia, cognitive decline, malabsorption, and cataract related to CTX show heterogeneous signal changes in the dentate nucleus and surrounding cerebellar white matter (A), and symmetric signal changes involving corticospinal tract in the brain stem (B) and posterior limb of the internal capsule. SWI images (D) show blooming in the cerebellar white matter suggestive of lipid deposition. Imaging (E–H) of an individual with progressive spastic paraparesis due to the spinal variant of CTX (spinal xanthomatosis): Normal brain imaging including posterior fossa (E). T2 sagittal of spine revealing long segment linear hyperintensity along the posterior cervical (F) and thoracic cord (G). Corresponding T2 axial section with signal changes in the dorsal column (H).