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

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. Resumen Síndrome del túnel carpiano en la mucopolisacaridosis Tipo I: un estudio de cohortes basado en registros ObjetivoCaracterizar el síndrome del túnel carpiano (STC) en pacientes con Mucopolisacaridosis Tipo I (MPS I). Método Se incluyeron datos de pacientes con MPS I que tenían un examen de conducción nerviosa que incluía un diagnóstico de STC o que tenían cirugía de liberación de STC. Aunque esto representaba un subconjunto de pacientes con STC en el Registro de MPS I, los criterios se consideraron los más objetivos para el análisis de datos. Resultados En marzo de 2016, 994 pacientes se clasificaron como severos (Hurler) o atenuados (Hurler‐Scheie o Scheie). Entre estos, 291 tuvieron un diagnóstico de STC,