Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry

J Pediatr. 2009 Jun;154(6):859-64.e3. doi: 10.1016/j.jpeds.2008.12.024. Epub 2009 Feb 12.


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.

Study design: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Female
  • Humans
  • Male
  • Mucopolysaccharidosis I / classification
  • Mucopolysaccharidosis I / complications*
  • Mucopolysaccharidosis I / diagnosis
  • Phenotype
  • Surgical Procedures, Operative / classification
  • Surgical Procedures, Operative / statistics & numerical data*
  • Young Adult