Presentation
Muscle rigidity and convulsions.
Patient Data
Age: 2 years
Gender: Female
From the case:
Metachromatic leukodystrophy
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Bilateral symmetrical confluent periventricular deep white matter high signal intensities on T2, involving the centrum semiovale with sparing of subcortical U fibers, and associated linear abnormal low signal intensities of the white matter on axial T2 consistent with a tigroid pattern.
Case Discussion
Metachromatic leukodystrophy is the most prevalent hereditary (autosomal recessive) leukodystrophy. It is characterized by peri-atrial and, to a lesser extent, frontal horn symmetrical deep white matter high signal intensities with sparing of subcortical U fibers. Perivenular sparing produces a tigroid pattern.
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