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Research Articles Issue 2 · 2023 · pp. 153–158 · Issue page

MULTIDISCIPLINARY APPROACH TO DIAGNOSIS AND MANAGEMENT OF MUCOPOLYSACCHARIDOSIS TYPE VI: A CASE STUDY

MA
Marya HAMEED1
MU
Muhammad Talal ASHRAF2
MU
Muhammad Khuzzaim KHAN3
FA
Fahad Hassan SHEIKH4
FA
Fatima SIDDIQUI5
MU
Mukhtiar Ahmed MEMON6
1 National Institute of Child health, Karachi, Pakistan
2 Dow University of Health Sciences, Karachi, Pakistan
3 Dow University of Health Sciences, Karachi, Pakistan
4 National Institute of Child health, Karachi, Pakistan
5 National Institute of Child health, Karachi, Pakistan
6 Dow University of Health Sciences, Karachi, Pakistan
Corresponding author: [email protected]
DOI https://doi.org/10.38173/RST.2023.26.2.15:153-158
Received 13 June 2023
Revised 24 September 2023
Accepted 20 October 2023
Available Online 15 November 2023
Abstract
MUCOPOLYSACCHARIDOSIS TYPE VI, ALSO KNOWN AS MAROTEAUX-LAMY SYNDROME IS A RARE GENETIC DISORDER THAT IMPAIRS THE BODY'S ABILITY TO BREAK DOWN GLYCOSAMINOGLYCANS, LEADS TO VARIOUS SYMPTOMS SUCH AS SKELETAL ABNORMALITIES, JOINT STIFFNESS, VISION AND HEARING PROB LEMS, AND HEART AND LUNG COMPLICATIONS. WE REPORT A CASE OF A 15 -YEAR-OLD FEMALE PATIENT WITH MAROTEAUX -LAMY SYNDROME, PRESENTING WITH DECREASED HEIGHT, SQUINTING, AND DIFFICULTY WALKING. IMAGING STUDIES REVEALED SEVERAL SKELETAL ABNORMALITIES, AND THE PATIENT'S ACTUAL BONE AGE CORRESPONDED TO TH AT OF A THREE -YEAR-OLD FEMALE. ENZYME REPLACEMENT THERAPY AND PHYSIOTHERAPY LED TO CONSIDERABLE IMPROVEMENT IN MOBILITY, DISEASE PROGRESSION, AND BONE GROWTH. THIS CASE REPORT EMPHASIZES THE IMPORTANCE OF EARLY DIAGNOSIS AND TREATMENT IN MANAGING MAROTEAUX-LAMY SYNDROME.
Keywords
MUCOPOLYSACCHARIDOSIS PEDIATRICS STORAGE DISORDER LYSOSOMAL
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