Insight into adult-onset metachromatic leukodystrophy with optic atrophy: A comprehensive case report

This abstract provides an overview of metachromatic leukodystrophy (MLD), an autosomal recessive disorder stemming from arylsulfatase A deficiency. MLD leads to cerebroside sulfate accumulation, causing central and peripheral demyelination. Clinical manifestations vary by age group: late-infantile (...

Full description

Saved in:
Bibliographic Details
Published in:Radiology case reports 2023-11, Vol.18 (11), p.4182-4186
Main Authors: Katwal, Shailendra, Suwal, Sundar, Lamichhane, Suman, Bhusal, Amrit, Ghimire, Aastha
Format: Article
Language:English
Subjects:
Adult onset
Case Report
Metachromatic leukodystrophy (MLD)
Motor weakness
Optic atrophy
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:This abstract provides an overview of metachromatic leukodystrophy (MLD), an autosomal recessive disorder stemming from arylsulfatase A deficiency. MLD leads to cerebroside sulfate accumulation, causing central and peripheral demyelination. Clinical manifestations vary by age group: late-infantile (rapid progression), juvenile (slower progression), and adult-onset (psychiatric symptoms). A case study details a 23-year-old with progressive vision impairment, motor weakness, and cognitive changes. Examination and MRI findings led to suspicion of MLD, later confirmed by enzyme testing. Optic nerve involvement is emphasized, along with diagnostic criteria involving enzyme assays, imaging, and urinary sulfatide excretion tests. While no cure exists, symptomatic and supportive care, including hematopoietic stem cell transplantation, remains key in MLD management.
ISSN:1930-0433
1930-0433
DOI:10.1016/j.radcr.2023.08.087