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- Title
Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study.
- Authors
Viskochil, David; Muenzer, Joseph; Guffon, Nathalie; Garin, Christophe; Munoz‐Rojas, M Veronica; Moy, Kristin A; Hutchinson, Douglas T
- Abstract
<bold>Aim: </bold>To characterize carpal tunnel syndrome (CTS) in patients with mucopolysaccharidosis I (MPS I).<bold>Method: </bold>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.<bold>Results: </bold>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.<bold>Interpretation: </bold>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.<bold>What This Paper Adds: </bold>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.
- Subjects
CARPAL tunnel syndrome; ENTRAPMENT neuropathies; OVERUSE injuries; MUCOPOLYSACCHARIDOSIS; LYSOSOMAL storage diseases; DIAGNOSIS; COMPARATIVE studies; LONGITUDINAL method; RESEARCH methodology; MEDICAL cooperation; NEURAL conduction; RESEARCH; EVALUATION research; ACQUISITION of data; DISEASE complications; MUCOPOLYSACCHARIDOSIS I
- Publication
Developmental Medicine & Child Neurology, 2017, Vol 59, Issue 12, p1269
- ISSN
0012-1622
- Publication type
journal article
- DOI
10.1111/dmcn.13545