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

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 PROBLEMS, 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 THAT 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.