Metachromatic leukodystrophy: A case report
DOI:
https://doi.org/10.3329/bsmmuj.v9i1.28951Keywords:
Metachromatic leukodystrophy, Arylsulfatase A, MRIAbstract
Metachromatic leuk:odystrophy (MLD) is a rare neurometabolic disease caused by the deficiency of the enzyme arylsulfatase A .Deficiency of this enzyme results in intralysosomal storage ofsphingolipid , cerebroside 3-sulfates (sulfatides), which are abundant in myelin of neurons. A pathological hallmark of MLD is demyelination and neurodegeneration.
A case of the juvenile form of MLD diagnosed by typical history, brain imaging and enzyme assay, is being reported here.
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