Metachromatic leukodystrophy: A case report

Abstract

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.

Keywords

• Metachromatic leukodystrophy
• Arylsulfatase A
• MRI