MUSCULOSKELETAL ALTERATIONS OF ORTHOPEDIC INTEREST IN MUCOPOLYSACCHARIDOSES.

Abstract

Mucopolysaccharidoses (MPS) are lysosomal storage diseases characterized by the improper accumulation of glycosaminoglycans due to genetic deficiencies in specific enzymes. This accumulation leads to progressive cellular and tissue dysfunction, affecting multiple systems, particularly the musculoskeletal system, resulting in multiple dysostoses with deformities in the spine, thorax, and limbs. Clinically, MPS manifests as recurrent respiratory infections, sleep apnea, severe cardiac lesions, and hydrocephalus, among other symptoms. Bone and joint alterations markedly impair motor function and the quality of life of patients. However, early diagnosis can be achieved by identifying osteoarticular signs, which are crucial for the immediate initiation of treatment. Despite the well-pronounced skeletal manifestations, there is a lack of recognition among specialists, indicating the need for detailed reviews for medical professionals, especially orthopedists, radiologists, pediatricians, and geneticists. This study aims to highlight the orthopedic alterations of MPS, emphasizing their radiographic aspects, which are essential for suspicion, differential diagnosis, and correct identification, contributing to better management of these diseases. Level of Evidence V; Review Article.