title: Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry.
abstract: OBJECTIVE
  To clarify the extent and chronology of surgical burden in relation to symptom onset and diagnosis in patients with mucopolysaccharidosis I (MPS I) as reported in the MPS I Registry, an international observational database.
  
  
  METHODS
  Analysis of surgical data from 544 patients enrolled in the MPS I Registry. Among all patients with at least 1 reported surgery, the number and frequency of procedures, and age at procedure, diagnosis, and symptom onset were collected overall, by patient, and by reported phenotype (Hurler, Hurler-Scheie, Scheie).
  
  
  RESULTS
  Overall and by phenotype, approximately 75% of patients in the MPS I Registry reported at least 1 surgery. The most common were myringotomies and related procedures, hernia repair, adenoidectomy/tonsillectomy, and carpal-tunnel release. Median age at first surgery was <5 years. A median of 3 to 4 surgeries was reported per patient. By age 1.5, 4, and 10 years, respectively, 22%, 44%, and 54% of patients reported > or = 2 surgeries. At least 1 surgery preceded diagnosis in 36%, 46%, and 63% of patients with Hurler, Hurler-Scheie, and Scheie, respectively.
  
  
  CONCLUSIONS
  Pediatricians and pediatric surgeons need to be aware of the surgical burden of MPS I and be alert to its presenting signs and symptoms in children scheduled for surgery.
authors.affiliation: Department of Pediatrics, The Nemours Children's Clinic, Jacksonville, FL 32207, USA. parn@nemours.org
authors.forename: Pamela
authors.initials: P
authors.lastname: Arn
authors.forename: J Edmond
authors.initials: JE
authors.lastname: Wraith
authors.forename: Lisa
authors.initials: L
authors.lastname: Underhill
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008059:Mucopolysaccharidosis I / Q000145:classification / Q000150:complications* / Q000175:diagnosis; D010641:Phenotype; D013514:Surgical Procedures, Operative / Q000145:classification / Q000706:statistics & numerical data*; D055815:Young Adult