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

• Published in: Developmental medicine and child neurology Vol. 59; no. 12; pp. 1269 - 1275
• Main Authors: Viskochil, David, Muenzer, Joseph, Guffon, Nathalie, Garin, Christophe, Munoz‐Rojas, M Veronica, Moy, Kristin A, Hutchinson, Douglas T
• Format: Journal Article
• Language: English
• Published: England 01.12.2017
• Subjects: Adolescent; Adult; Carpal Tunnel Syndrome - diagnosis; Carpal Tunnel Syndrome - etiology; Child; Child, Preschool; Cohort Studies; Female; Humans; Infant; Male; Mucopolysaccharidosis I - complications; Mucopolysaccharidosis I - diagnosis; Neural Conduction; Registries; Young Adult
• ISSN: 0012-1622; 1469-8749
• DOI: 10.1111/dmcn.13545

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, basado en una conducción nerviosa anormal (n = 54) o en una cirugía de liberación (n = 237). En cuanto a la edad, la mediana (mínima y máxima) al primer diagnóstico de STC fue a los 5 años 2 meses (10 meses, 16 años 2 meses) y a los 9 años 11 meses (1año 8 meses, 44 años 1 mes) para pacientes con MPS I grave y atenuada, respectivamente. La mayoría de los pacientes tuvieron su primer diagnóstico de STC después del diagnóstico de MPS I (94%) y el tratamiento ‐ que consistió en trasplante de células madre hematopoyéticas y / o terapia de reemplazo enzimático (74%). Para el 11% de los pacientes con enfermedad atenuada, el diagnóstico de STC precedió al diagnóstico de MPS I con una media de 7 años y 6 meses. Interpretación El STC es una complicación rara en pacientes pediátricos y debe alertar a los especialistas para lograr el diagnóstico potencial de MPS I. Se evidencio demoras significativas en el diagnostico de STC y MPS I en aquellos pacientes con enfermedad atenuada. Resumo Síndrome do túnel do carpo em mucopolissacaridose I: um estudo de coorte baseado em registro ObjetivoCaracterizar a síndrome do túnel do carpo (STC) em pacientes com mucopolissacaridose I (MPS I). Método Foram incluídos dados para pacientes com MPS I que tiveram exame de condução nervosa que incluía diagnóstico de STC ou que passaram por cirurgia de liberação para STC. Embora isso represente um subgrupo de pacientes com STC no registro de MPS I, os critérios foram considerados para uma análise de dados mais objetiva. Resultados Até março de 2016, 994 pacientes foram categorizados como tendo MPS I severa (Hurler) ou atenuada (Hurler‐Scheie ou Scheie). Dentre estes, 291 tiveram diagnóstico de STC baseado em condução nervosa anormal (n=54) ou cirurgia de liberação (n=237). As idades medianas (mínimo, máximo) no primeiro diagnóstico de STC foram 5 anos e 2 meses (10 meses, 16 anos e 2 meses) e 9 anos e 11 meses (1 ano e 8 meses, 44 anos e 1 mês) para pacientes com MPS I severa e atenuada, respectivamente. A maioia dos pacientes teve o primeiro diagnóstico de STC após o diagnóstico de MPS I (94%) e tratamento (transplante de células tronco hematopoiéticas e/ou terapia de reposição enzimática (74%). Para 11% dos pacientes com doença atenuada, o diagnóstico de STC precede o diagnóstico de MPS I por uma média de 7 anos e 6 meses. Interpretação A STC é uma complicação rara em pacientes pediátricos, e deve alertar profissionais da saúde sobre um potencial diagnóstico de MPS I. Existe atraso significativo entre o diagnóstico de STC e MPS I para pacientes com a forma atenuada da doença. 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. This article is commented on by White on pages 1213–1214 of this issue. This article's has been translated into Spanish and Portuguese. Follow the links from the to view the translations.