Objective To review of the natural history of airway disease in children with muccopolysaccharidoses (MPSs), which represent a group of hereditary progressive disorders caused by excessive accumulation of glycosaminoglycans in various tissues.
Design Retrospective medical chart review.
Setting Tertiary referral academic medical center.
Patients Twenty-seven children with MPSs.
Main Outcome Measures A review of the medical charts of 27 children with MPSs between February 1, 1984, and February 1, 2004, was performed to examine the natural history of airway disease.
Results Clinically upper airway obstruction was noted in 19 patients (70%) and necessitated a tracheotomy in 3 patients (11%). Fourteen of the 27 patients underwent bone marrow transplantation, and successful engraftment resulted in a significant decrease in obstructive symptoms in 13 of the 14 patients.
Conclusions Patients affected by MPSs require the vigilant attention of the otolaryngologist, as sleep apnea and upper airway obstruction are common complications. Successful bone marrow engraftment may alter the natural history of airway disease and result in substantial improvement in symptomatic airway disease in children with MPSs.
