MR of childhood metachromatic leukodystrophy.
OBJECTIVE
To investigate the MR findings of childhood metachromatic leukodystrophy (MLD).


METHODS
Nine MR imaging studies in seven children (five girls and two boys, 10 to 32 months old) with MLD were evaluated retrospectively for the extent and progression of white matter abnormalities and the presence of contrast enhancement.


RESULTS
All seven cases showed symmetric, confluent high signal intensity on T2-weighted images in the periventricular white matter and centrum semiovale. A posterior predominance of white matter abnormalities was noted in all cases. Although initially spared from demyelination in all cases, in one case, the subcortical U fibers were later involved in demyelination of follow-up MR studies. Other sites of involvement were the genu (n = 5) and splenium (n = 6) of the corpus callosum, the posterior limbs of the internal capsule (n = 5), the descending pyramidal tracts (n = 4), the claustrum (n = 4), and the cerebral white matter (n = 2); diffuse brain atrophy was seen in two cases. No enhancement of the lesion was seen on any of the five postcontrast examinations. A "tigroid" pattern, previously described in cases of Pelizaeus-Merzbacher disease, was noted in the centrum semiovale in six cases.


CONCLUSIONS
In late-infantile MLD, demyelination is more prominent in the occipital region. In addition to demyelination of the periventricular white matter, common manifestations include a "tigroid" pattern and involvement of the corpus callosum, the internal capsule, and the corticospinal tract.
Kim
T S
TS
Department of Radiology, Seoul National University, College of Medicine, Korea.
Kim
I O
IO
Kim
W S
WS
Choi
Y S
YS
Lee
J Y
JY
Kim
O W
OW
Yeon
K M
KM
Kim
K J
KJ
Hwang
Y S
YS
D001921:Brain / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002675:Child, Preschool; D003287:Contrast Media; D003337:Corpus Callosum / Q000473:pathology; D003711:Demyelinating Diseases / Q000473:pathology; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis / Q000473:pathology; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007089:Image Enhancement; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009778:Occipital Lobe / Q000473:pathology; D011712:Pyramidal Tracts / Q000473:pathology; D012189:Retrospective Studies
D003287:Contrast Media