What this covers
The mucopolysaccharidoses (MPS) are a group of disorders marked by the abnormal build-up of glycosaminoglycans (GAGs), and although the types differ, the bones and joints are always involved. Drawing on the literature and the authors' orthopaedic experience across three Italian centres, this review sets out a framework for the orthopaedic problems in MPS and their treatment.
Key takeaways
- Bone changes make up what is known as dysostosis multiplex, affecting the trunk and limbs with typical findings on X-ray, while the joints are affected by pathological tissue infiltration.
- The cervical spinal cord can be involved, with narrowing of the canal (stenosis) and instability at the neck and at the junction with the skull.
- Scoliosis is far more common than in healthy people, and kyphosis is both more frequent and more severe, typically at the thoracolumbar level with a malformed vertebra at the top of the curve and a risk of neurological complications.
Why it matters
Mapping out these skeletal problems helps clinicians anticipate and plan treatment for the orthopaedic complications that affect children with MPS.
