Metachromatic leukodystrophy: A case report

Gopen Kumar Kundu; Shaheen Akhter; M. Mizanur Rahman

doi:10.3329/bsmmuj.v9i1.28951

Metachromatic leukodystrophy: A case report

Authors

Gopen Kumar Kundu Paediatric Neurology, BSMMU
Shaheen Akhter Paediatric Neurology, BSMMU
M. Mizanur Rahman Paediatric Neurology, BSMMU

DOI:

https://doi.org/10.3329/bsmmuj.v9i1.28951

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

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Published

2016-07-28

How to Cite

Kundu, G. K., 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

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Vol. 9 No. 1 (2016)

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Case Report

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

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Metachromatic leukodystrophy: A case report

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Gopen Kumar Kundu, Paediatric Neurology, BSMMU

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