Juvenile Metachromatic Leukodystrophy: A Case Report from Bangladesh

Authors

  • Mohammad Ala Uddin Medical Officer, Department of Pediatric Neurology, National Institute of Neurosciences and Hospital, Dhaka
  • Ariful Islam Associate Professor, Department of Pediatric Neurology, National Institute of Neurosciences and Hospital, Dhaka
  • SK Azimul Hoque Associate Professor, Department of Pediatric Neurology, National Institute of Neurosciences and Hospital, Dhaka
  • Narayan Saha Professor and Head, Department of Pediatric Neurology, National Institute of Neurosciences and Hospital, Dhaka

DOI:

https://doi.org/10.3329/jninb.v4i2.38933

Keywords:

Metachromatic leukodystrophy, Arylsulfatase A, ARSA gene, MRI brain, White matter

Abstract

Metachromatic leukodystrophy (MLD) is the neurometabolic disease caused by deficiency of enzyme arylsulfatase a resulting in deficiency of sulfatide degradation. The responsible gene is arylsulfatase A gene and is inherited in an autosomal recessive manner. MLD is characterized by three clinical subtypes, defined primarily by age at presentation such as late infantile MLD, juvenile MLD, adult onset MLD. Here we report a case of Juvenile form of MLD that was identified by means of typical history, clinical findings and supported by nerve conduction study, typical MRI of brain findings and confirmed by enzyme assay.

Journal of National Institute of Neurosciences Bangladesh, 2018;4(2): 154-157

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Published

2018-12-10

How to Cite

Uddin, M. A., Islam, A., Hoque, S. A., & Saha, N. (2018). Juvenile Metachromatic Leukodystrophy: A Case Report from Bangladesh. Journal of National Institute of Neurosciences Bangladesh, 4(2), 154–157. https://doi.org/10.3329/jninb.v4i2.38933

Issue

Vol. 4 No. 2 (2018)

Section

Case Reports

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