Brain MRI of patients with metachromatic leukodystrophy

Example T2-weighted axial MR images of patients with late infantile MLD in the early (A) and late (B) phase and with juvenile MLD in the early (C) and late (D) phase of the disease.

(A) 2 years 4 months old female, who had presented with first symptoms 1 month prior to the MR scan. MRI shows the typical pattern of severe parieto-occipital WM hyperintensity of periventricular and central WM, sparing subcortical WM (already myelinated). In the frontal WM, only central parts are slightly involved. Both genu and splenium show signal hyperintensities, with the splenium more severely affected. Internal capsule is not yet involved, nor are there signs of cerebral atrophy or cerebellar involvement yet.

(B) 3-year-old female, 23 months after first symptoms. Note the severe centrifugal spread of WM signal hyperintensities, involving partly subcortical areas and the corpus callosum. In addition, there is widening of inner ventricles as well as hyperintensity of the posterior limb of the internal capsule. Furthermore, cerebellar WM and projection fibers in the brain stem are affected.

(C) 12-year-old female, MRI done at the very onset of symptoms. Periventricular and central WM areas show signal hyperintensities including the commissural WM. Posterior limb of internal capsule is already involved. There are no cerebellar changes or cerebral atrophy. Subcortical WM (U-fibers) is also spared.