MRI spectrum of cerebellar parenchymal abnormalities in cerebrotendinous xanthomatosis (CTX)

The MRI spectrum of cerebellar parenchymal abnormalities in different patients with CTX.

(A) Axial FLAIR image shows absence of cerebellar signal abnormalities.

(B) Axial FLAIR image reveals bilateral dentate nuclei hyperintensity.

(C,D) Coronal T2W image (C) shows bilateral hyperintensity of dentate nuclei and surrounding white matter, and axial FLAIR image (D) shows in the same areas low signal intensity consistent with cerebellar vacuolation.

(E,F) Axial FLAIR image (E) shows bilateral hyperintensity of the dentate nuclei with a central stripe of low signal suggesting calcification, and brain CT (F) shows in the same areas hypodense signal surrounding hyperdense lesions which are consistent with calcification.