Mohammad Ahmed-Khan Mohamed Zakee Mohamed JiffryMD1, Taleah Khan, MBBS2, Mahnoor
Hanif,Faateh Ahmad Rauf,
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,
