Metachromatic leukodystrophy: A case report

  • Gopen Kumar Kundu Paediatric Neurology, BSMMU
  • Shaheen Akhter Paediatric Neurology, BSMMU
  • M. Mizanur Rahman Paediatric Neurology, BSMMU
Keywords: Metachromatic leukodystrophy, Arylsulfatase A, MRI

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.

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Author Biography

Gopen Kumar Kundu, Paediatric Neurology, BSMMU

 

 

Published
2016-07-28
How to Cite
Kundu, G., Akhter, S., & Rahman, M. M. (2016). Metachromatic leukodystrophy: A case report. Bangabandhu Sheikh Mujib Medical University Journal, 9(1), 62-65. https://doi.org/10.3329/bsmmuj.v9i1.28951
Section
Case Reports