American Research Journal of Clinical Case Reports

Metachromatic Leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder that is classed as a demyelinating disorder of the nervous system along with other leukodystrophies. The disease is characterized by a genetic deficiency of Arylsulfatase A (ARSA)[2][7][8], or the deficiency of saposin B [6] (which activates ARSA and is a non-enzymatic protein co-factor). ARSA has the function of breaking down and removing sulfatides from the body, and is toxic to myelin when built up in the CNS or PNS, causing pathological demyelination of the nerves. Cerebroside sulfate, which is normally broken down by ARSA, consequently accumulates, and is what causes the toxicity to myelin. We present a 2-year-old male who presented with recurring seizures and drop attacks beginning 18 months of age. He then recently began to regress with regard to milestones and subsequently progressed to quadriplegia. The case was investigated with an MRI and confirmatory biochemical testing for MLD. The MR imaging showed areas of elevated signal intensity of periventricular white matter, and the contrast MR shows early signs of demyelination on the basis of the lack of enhancement. Keywords: metachromatic leukodystrophy, lysosomal storage disorders, leukodystrophies, demyelinating disorder,