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Skeletal complications in mucopolysaccharidosis VI patients: Case reports

Paula Garcia1, Sérgio B Sousa, Tah Pu Ling

  • 1Unidade de Doenças Metabólicas, Hospital Pediátrico de Coimbra, Coimbra, Portugal.

Journal of Pediatric Rehabilitation Medicine
|July 28, 2011
PubMed

Insights

Mucopolysaccharidosis (MPS) VI, a genetic disorder, causes significant orthopedic issues. This study details the orthopedic challenges and management strategies in three patients with MPS VI.

Area of Science:

  • Genetics and Metabolic Disorders
  • Orthopedics and Musculoskeletal Health
  • Lysosomal Storage Diseases

Background:

  • Mucopolysaccharidosis (MPS) VI is an inherited lysosomal storage disorder.
  • Patients with MPS VI frequently develop severe skeletal abnormalities.
  • Orthopedic complications significantly impact patient quality of life.

Purpose of the Study:

  • To describe the orthopedic problems in three patients with MPS VI.
  • To illustrate the progression of orthopedic manifestations in MPS VI.
  • To highlight management approaches for orthopedic issues in MPS VI.

Main Methods:

  • Case series describing three patients with MPS VI.
  • Focus on clinical presentation and radiographic findings of orthopedic conditions.
  • Review of management strategies employed for skeletal deformities.

Main Results:

  • Detailed description of hip dysplasia, spinal deformities, and deformities in the skull, knees, and hands in the cases.
  • Observation of disease progression over time.
  • Evaluation of the effectiveness of various orthopedic interventions.

Conclusions:

  • MPS VI presents with a spectrum of severe orthopedic challenges.
  • Comprehensive orthopedic management is crucial for addressing MPS VI-related skeletal issues.
  • Further research into optimal treatment strategies for orthopedic manifestations is warranted.

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