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In this case-based and clinically rich session, Dr. Bianca Link explores joint and skeletal complications in patients with mucopolysaccharidoses (MPS) in depth, using longitudinal examples to highlight the diversity of disease progression and surgical challenges. The presentation focuses on MPS I and II, referencing MPS III and IV, underscoring the complexity of orthopedic decision-making in these disorders.
Dr. Link begins by reviewing musculoskeletal involvement across MPS types. While stiffness and deformity are common in most types, instability is particularly characteristic of MPS IV. She also notes that while joint contractures are typical in MPS I and II, even MPS III—primarily a neurocognitive disorder—can present with secondary musculoskeletal signs due to central nervous system involvement.
A major focus is on the spine and lower limbs. Dr. Link presents comparative hip imaging of two MPS I patients—one female with early bilateral femoral head necrosis and another male with rapid-onset hip dysplasia and joint collapse. The case illustrates that disease progression and prognosis can differ dramatically, even with the same diagnosis, depending on early intervention and baseline anatomy.
The webinar then explores the case of a young boy with MPS I who underwent hematopoietic stem cell transplantation (HSCT) at 18 months. Despite successful engraftment, his scoliosis worsened over time. Pre-surgical evaluation revealed cervical spinal stenosis, prompting decompression surgery before any spinal correction—highlighting the critical need to assess the craniocervical junction prior to orthopedic interventions to prevent neurologic injury.
Subsequent cases demonstrate complications in managing orthopedic outcomes post-HSCT and ERT. One young woman with MPS I, transplanted three times, showed improvement and retained walking ability, despite residual deformities and surgery-related complications. Another attenuated MPS I case revealed how carpal tunnel syndrome and spinal stenosis can coexist and complicate diagnosis and management.
Dr. Link also discusses severe cases of MPS II, illustrating variability in spinal involvement and the progression of scoliosis despite ERT. She shows that patients with seemingly mild phenotypes can still develop debilitating orthopedic complications, necessitating ongoing monitoring and individualized treatment.
The session concludes with a strong message: even with advances like ERT and HSCT, orthopedic challenges persist in MPS due to the limitations of therapy in reaching bone and cartilage. Early diagnosis, vigilant surveillance (especially through MRI), and strategic surgical planning are essential to preserving mobility and quality of life.