Metachromatic Leucodystrophy: A Case Report

Authors

  • Ramchandra Bastola Department of Pediatrics, PAHS, Pokhara, Nepal
  • Shree Krishna Shrestha Department of Pediatrics, PAHS, Pokhara, Nepal
  • Amrita Ghimire Department of Pediatrics, PAHS, Pokhara, Nepal
  • Sunita Ghimire Department of Pediatrics, PAHS, Pokhara, Nepal

Keywords:

ARSA; MLD ; MRI

Abstract

Metachromatic leukodystrophy (MLD) is a rare autosomal recessive inherited disease, which is caused by a deficiency in the enzyme activity of Arylsulfatase A (ARSA). Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant in myelin and neurons. Demyelination and neurodegeneration, causing multiple and ultimately lethal neurological symptoms is the hallmark of MLD. Though it is a rare disease of frequency 1/100,000 live birth, typical history and brain imaging is being reported here.

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Published

2021-01-09

How to Cite

1.
Bastola R, Shrestha SK, Ghimire A, Ghimire S. Metachromatic Leucodystrophy: A Case Report. Journal of Karnali Academy of Health Sciences [Internet]. 2021Jan.9 [cited 2024May9];3(3). Available from: https://jkahs.org.np/jkahs/index.php/jkahs/article/view/399

Issue

Vol. 3 No. 3 (2020): JKAHS; Sep-Dec Issue (9)

Section

Case report

License

Copyright (c) 2020 Dr.Ramchandra Bastola, Shree krishna Shrestha, Amrita Ghimire, Sunita Ghimire

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