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Orthopaedic challenges for mucopolysaccharidoses.

Andrea Borgo1, Andrea Cossio2, Denise Gallone2

  • 1Orthopaedic Clinic, Padua University General Hospital, Padua, Italy.

Italian Journal of Pediatrics
|November 17, 2018
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Summary
This summary is machine-generated.

Mucopolysaccharidoses (MPS) cause skeletal issues like dysostosis multiplex and joint problems. This study outlines MPS orthopaedic manifestations and treatments, emphasizing spinal and hip involvement, and surgical options.

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Area of Science:

  • Orthopaedics
  • Genetics
  • Paediatrics

Background:

  • Mucopolysaccharidoses (MPS) are inherited metabolic disorders.
  • Characterized by the abnormal accumulation of glycosaminoglycans (GAGs).
  • Osteoarticular system involvement is a hallmark across all MPS types.

Purpose of the Study:

  • To establish a framework for MPS-related orthopaedic manifestations.
  • To review current treatment strategies for these conditions.
  • To consolidate expert experience and literature findings.

Main Methods:

  • Literature review across three Italian Orthopaedic Centres.
  • Analysis of accumulated professional experience.
  • Categorization of clinical features and treatments by body part.

Main Results:

  • Dysostosis multiplex affects the trunk and limbs with characteristic radiological findings.
  • Joints exhibit pathological tissue infiltration; hips show dysplasia and migration tendency.
  • Spinal issues include stenosis, instability, scoliosis, and kyphosis, often requiring surgical fusion.
  • Genu valgum is common, impacting the proximal tibial metaphysis and leading to cartilage erosion.

Conclusions:

  • MPS presents diverse orthopaedic challenges, particularly affecting the spine, hips, and knees.
  • Treatment strategies vary based on the specific manifestation and patient age.
  • Anesthetic risks are elevated, necessitating specialized care.