Metachromatic Leucodystrophy: A Case Report

Authors

  • Subhana Karki Assistant Professor, Kanti Children's Hospital, Maharajgunj, Kathmandu, and affiliated to National Academy of Medical Sciences, Bir Hospital, Mahabauddha, Kathmandu
  • Ganesh Kumar Rai Associate Professor, Kanti Children's Hospital, Maharajgunj, Kathmandu, and affiliated to National Academy of Medical Sciences, Bir Hospital, Mahabauddha, Kathmandu
  • Raju Kafle Kanti Children's Hospital, Maharajgunj, Kathmandu, and affiliated to National Academy of Medical Sciences, Bir Hospital, Mahabauddha, Kathmandu

DOI:

https://doi.org/10.3126/jnps.v31i2.4644

Keywords:

Metachromatic Leucodystrophy

Abstract

Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative disorder characterized by deficient activity of the enzyme arylsulfatase-A. Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant in myelin and neurons. A pathological hallmark of MLD is demyelination and neurodegeneration, causing various and ultimately lethal neurological symptoms. Its frequency is estimated to be 1/40,000 live births. The disease encompasses three clinical subtypes: late infantile (40% of the patients with MLD), juvenile (40%), and adult (20%).  

DOI: 10.3126/jnps.v31i2.4644

J Nep Paedtr Soc 2010;31(2):143-145

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How to Cite

Karki, S., Rai, G. K., & Kafle, R. (2011). Metachromatic Leucodystrophy: A Case Report. Journal of Nepal Paediatric Society, 31(2), 143–145. https://doi.org/10.3126/jnps.v31i2.4644

Issue

Vol. 31 No. 2 (2011)

Section

Brief Reports/Case Reports/Case Series

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