Speaker:
Klane K. White, MD, MSc
Chair Department of Paediatric Orthopaedics, Rose Brown Endowed Chair of Paediatric Orthopaedic Surgery, Children’s Hospital Colorado
Professor Vice Chair, Department of Orthopaedics, University of Colorado School of Medicine
Professor, Genetics and Metabolism, Department of Paediatrics
Skeletal abnormalities are early and prominent features of the mucopolysaccharidoses and mucolipidoses (MPS/ML). The orthopaedic surgeon is often the first healthcare provider to raise suspicion for this diagnosis and an integral member of the MPS/ML healthcare team. Medical therapies for the management of MPS (i.e. hematopoietic stem cell transplantation, intravenous enzyme replacement therapy) have led to increased lifespan but have had limited beneficial effect on the development of skeletal deformities. Patients must be monitored carefully and treated surgically as necessary. Conditions that may require surgical management include spinal cord compression in the cervical spine, gibbus deformity, hip dysplasia and osteonecrosis, genu valgum, and carpal and tarsal tunnel syndromes. Anesthetic and perioperative evaluation are critical to safe and successful orthopaedic surgery.