title: Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS.
abstract: BACKGROUND
  We wanted to investigate whether the prevalence of mucopolysaccharidoses (MPS) I, II, and VI was higher than expected in a selected cohort of patients with carpal tunnel syndrome (CTS). CTS is a common finding in patients with MPS, and therefore we screened patients who had undergone surgery for CTS for undiagnosed MPS.
  
  
  METHODS
  Patients who had been operated for CTS were found in databases from two hospitals. Furthermore, patients who had undergone surgery for CTS when under the age of 18 were retrieved from the National Patient Registry. All included patients had a filter paper blood spot sample taken that was subsequently analyzed enzymatically for MPS I, II, and VI.
  
  
  RESULTS
  425 patients were included. 402 patients tested negative in the first test. 23 had inconclusive result whereof 18 was negative in a second test. The remaining five patients had two inconclusive tests each and were referred for further examination at the Center for Inherited Metabolic Diseases where the diagnosis was excluded. Thus, all included patients were negative for both MPS I, II and VI.
  
  
  CONCLUSIONS
  Though our sample size is relatively small, results indicate that MPS is not prevalent in a cohort of adult patients with monosymptomatic CTS, and that screening is not indicated in this setting.
authors.affiliation: Department of Neurosurgery, Copenhagen University Hospital, 9 Blegdamsvej, 2100, Copenhagen, Denmark. mettenormark@hotmail.com.
authors.forename: Mette Borch
authors.initials: MB
authors.lastname: Nørmark
authors.affiliation: Faculty of Health and Sciences, Copenhagen University, 3B Blegdamsvej, 2200, Copenhagen, Denmark.
authors.forename: Nanna
authors.initials: N
authors.lastname: Kjaer
authors.affiliation: Center for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, 9 Blegdamsvej, 2100, Copenhagen, Denmark.
authors.forename: Allan Meldgaard
authors.initials: AM
authors.lastname: Lund
keywords: Carpal tunnel syndrome; High-risk screening; MPS; Mucopolysaccharidosis; Screening