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Carpal tunnel syndrome in mucopolysaccharidosis I: a registry‐based cohort study
Author(s) -
Viskochil David,
Muenzer Joseph,
Guffon Nathalie,
Garin Christophe,
MunozRojas M Veronica,
Moy Kristin A,
Hutchinson Douglas T
Publication year - 2017
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.13545
Subject(s) - medicine , mucopolysaccharidosis , enzyme replacement therapy , carpal tunnel syndrome , hurler syndrome , hunter syndrome , mucopolysaccharidosis type ii , cohort , hematopoietic stem cell transplantation , mucopolysaccharidosis i , complication , surgery , lysosomal storage disease , pediatrics , disease , transplantation
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.