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

  • Mette Borch NørmarkEmail author
  • Nanna Kjaer
  • Allan Meldgaard Lund
Research Report
Part of the JIMD Reports book series (JIMD, volume 36)


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.

Patients and 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.

Discussion/Conclusion: 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.


Carpal tunnel syndrome High-risk screening MPS Mucopolysaccharidosis Screening 


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  • Mette Borch Nørmark
    • 1
    Email author
  • Nanna Kjaer
    • 2
  • Allan Meldgaard Lund
    • 3
  1. 1.Department of NeurosurgeryCopenhagen University HospitalCopenhagenDenmark
  2. 2.Faculty of Health and SciencesCopenhagen UniversityCopenhagenDenmark
  3. 3.Center for Inherited Metabolic Diseases, Department of Clinical GeneticsCopenhagen University HospitalCopenhagenDenmark

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