Colmenares-Bonilla D

Language: Spanish
References: 29
Page: 16-23
PDF size: 999.58 Kb.

ABSTRACT

Mucopolysaccharidoses (MPS) are multisystem lysosomal disorders with an estimated incidence of 1 in 25,000 births, characterized by the progressive deposition of glycosaminoglycans (GAGs) that cause cellular and tissue damage. Although diagnosis has improved with biochemical profiles and genetic sequencing, 60-70% of cases are first identified by musculoskeletal manifestations, placing the pediatric orthopedist in a leading role for early detection. MPS present a phenotypic spectrum classified as: 1) hurlerian (MPS I, II, VI) with multiple dysostosis and joint contractures; 2) neurological (MPS III) with psychomotor regression; and 3) skeletal (MPS IVA) with disproportionate short stature and cervical instability. The accumulation of specific GAGs (dermatan/heparan sulfate) determines clinical manifestations, ranging from corneal opacity to spinal cord compression due to odontoid hypoplasia. The orthopedist must recognize key signs such as thoracolumbar hump (pathognomonic in MPS I/IV), progressive genu valgum (> 15°), and irregular femoral epiphyses (mimicking bilateral Perthes syndrome in MPS IVA). Although enzyme replacement therapies have improved survival, orthopedic complications (scoliosis, arthropathy) persist, requiring surgical management (cervical arthrodesis, osteotomies) and multidisciplinary follow-up. This review emphasizes the essential knowledge for the timely diagnosis and comprehensive management of MPS, to optimize the quality of life of these patients.

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EVIDENCE LEVEL

V. Estudio de revisión