Orthopedic Management of the Mucopolysaccharidoses
Klane White, MD
Dr. Klane White provides a visual overview of pediatric orthopedics and the prevention and treatment of musculoskeletal disorders in children with MPS. Dysostosis Multiplex (multiple bone abnormalities) is a progressive condition specific to MPS. The abnormalities can include varus and valgus bowing of the legs, scoliosis in the spine, hip dysplasia, and bent knees and spine on the sagittal plane. The most common spinal abnormality in MPS is Thoracolumbar Kyphosis in the lower spine. Carpal Tunnel syndrome can occur in MPS I, II, and VI. Other common abnormalities found in individuals with MPS include genu valgum (knock-knee) and cervical stenosis in the neck. Surgery is often necessary when there is excessive pain and stiffness, or when motion, rest, and everyday activities become limited. Neuromonitoring during surgery is critical to avoid potential post-surgery paralysis. Bracing and other therapies provide hope but currently offer mixed results.
Airway Problems with Patients of Mucopolysaccharidoses
Robert Wood, PhD, MD
Dr. Robert Wood discusses why individuals with MPS have a strong tendency to develop common airway problems, and the surgical and non-surgical recommendations to treat them. The airway and lungs are critical to human survival. If you cannot breathe, nothing else matters. Typical symptoms associated with MPS include noisy breathing, snoring, and sleep apnea. Upper airway obstructions can manifest in four ways – large adenoids, floppy larynx, floppy tongue base, and lingual tonsils. Many individuals with MPS experience all four symptoms. Non-surgical treatment options include CPAP and BiPAP, while common surgical options can include stenting, tracheostomy, adenoidectomy, and tonsillectomy. But one of the most critical considerations for those considering surgery, is the increased susceptibility to problems with anesthesia and intubation for individuals with MPS. It is highly recommended that careful evaluation be given by physicians who are highly experienced in dealing with MPS patients.