Publication: Metachromatic Leucodystrophy: A Case Report
Date
2011
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 143 - 145
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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%).
Description
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
Keywords
Metachromatic Leucodystrophy
Identifier
https://doi.org/10.3126/jnps.v31i2.4644