Tumefactive inflammatory lesions in juvenile metachromatic leukodystrophy

Juvenile metachromatic leukodystrophy (MLD) is caused by autosomal recessive defects in the ARSA gene coding for arylsulfatase A. Clinically, it is characterized by slowly progressive ataxia, spasticity, cognitive decline, and behavioral disturbances starting at age 4–10 years. White matter abnormalities are often first seen in the corpus callosum subsequently extending into the periventricular regions with a diffuse symmetrical pattern.

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