Metachromatic leukodystrophy: A case report

Abstract

<p>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.</p><p>A case of the juvenile form of MLD diagnosed by typical history, brain imaging and enzyme assay, is being reported here.</p>

Juvenile Metachromatic Leukodystrophy: A Case Report from Bangladesh

“…It is one of the most prevalent inherited white matter disorders 2 . The enzyme Arylsulfatase A is necessary for the normal metabolism of sulfatides which are important constituents of the myelin sheath 3,4 . The accumulation of sulfatide triggers leukodystrophy 1 .…”

“…The accumulation of sulfatide triggers leukodystrophy 1 . This accumulation occurs not only in the central nervous system but also in various other tissues including peripheral nervous system 3,4 . The incidence of MLD is reported as about 1 per 100,000 live births in the European population, and is found at even lower rate in Asia 1,4,5 .…”

“…Juvenile MLD patients present between age 30 months and 16 years (12 to 14 years). Patients presenting after this age are classified as having adult onset MLD 1,2,3,7 . There rarely has been case report of MLD in Bangladesh.…”