MRI appearance of metachromatic leukodystrophy in children / 中华放射学杂志

ABSTRACT

Objective To analyze the chara cteristic finding of metachromatic leukodystrophy (MLD) on MR images. Methods Eleven patients with biochemicall y proved MLD were studied retrospectively for the extent of white matter abnormalities and the in volvement of specific structures (such as corpus callosum, white matter tract, a nd thalami). Result All 11 cases in the periventricular white m atter and 10 cases in centrum semiovale showed a symmetric confluent high intens ity on T_2-weighted images. Involvement of subcortical U-fibers was present i n 4 late-stage cases. Other sites of involvement were the genu (n=8) and s plenium (n=9) of the cor pus callosum (both n=8), the posterior limbs of internal capsule (n=7), external capsule (n=4), the descending pyramidal tracts (pons in 1, midbrain in 3), and the cerebellar white matter (n=1). A tigroid pattern was found in the centru m se miovale in 8 cases. Nine cases appeared low signal intensity on T_2-weighted i mag es in the thalami; There were 5 cases with mild ventriculomegaly and 1 case with diffuse brain atrophy. Conclusion The typical MR feature of M LD is a bilatera l and symmetrical high signal intensity on T_2-weighted images in periventricu lar and centrum semiovale white matter with initial sparing of the subcortical U -fi ber, and both the genu and splenium of corpus callosum involvement. Besides, the tigroid pattern in the centrum semiovale and involvement of the internal capsul e, external capsule, and corticospinal tract are frequent additional features.