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Dev Med Child Neurol. 2017 Dec;59(12):1269-1275. doi: 10.1111/dmcn.13545. Epub 2017 Sep 11.

Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study.

Author information

1
Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.
2
Department of Pediatrics, University of North Carolina, Chapel Hill, NC, USA.
3
Department of Pediatrics, Hôpital Femme Mère Enfant, Lyon, France.
4
Department of Pediatric Orthopedic Surgery, University of Lyon, Lyon, France.
5
Sanofi Genzyme, Cambridge, MA, USA.
6
Epidemiology and Biostatistics, Sanofi Genzyme, Cambridge, MA, USA.
7
Department of Orthopedics, University of Utah, Salt Lake City, UT, USA.

Abstract

AIM:

To characterize carpal tunnel syndrome (CTS) in patients with mucopolysaccharidosis I (MPS I).

METHOD:

Data were included for patients with MPS I who had either nerve conduction examination that included a diagnosis of CTS or who had CTS release surgery. Although this represented a subset of patients with CTS in the MPS I Registry, the criteria were considered the most objective for data analysis.

RESULTS:

As of March 2016, 994 patients were categorized with either severe (Hurler syndrome) or attenuated (Hurler-Scheie or Scheie syndromes) MPS I. Among these, 291 had a CTS diagnosis based on abnormal nerve conduction (n=54) or release surgery (n=237). Median ages (minimum, maximum) at first CTS diagnosis were 5 years 2 months (10mo, 16y 2mo) and 9y 11mo (1y 8mo, 44y 1mo) for patients with severe and attenuated MPS I respectively. Most patients had their first CTS diagnosis after MPS I diagnosis (94%) and treatment (hematopoietic stem cell transplant and/or enzyme replacement therapy) (74%). For 11% of patients with attenuated disease, CTS diagnosis preceded MPS I diagnosis by a mean of 7 years 6 months.

INTERPRETATION:

CTS is a rare complication in pediatric patients and should alert medical care providers to the potential diagnosis of MPS I. Significant delays exist between diagnosis of CTS and MPS I for patients with attenuated disease.

WHAT THIS PAPER ADDS:

There are significant delays in diagnosing carpal tunnel syndrome (CTS) in patients with mucopolysaccharidosis I (MPS I). Enzyme replacement therapy or hematopoietic stem cell transplant do not prevent the development of CTS. Testing for CTS in patients with MPS I is recommended to prevent irreparable damage. CTS in pediatric patients should alert physicians to potential diagnosis of MPS I.

PMID:
28892147
DOI:
10.1111/dmcn.13545
[Indexed for MEDLINE]

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