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CARPAL TUNNEL SYNDROME IN CHILDREN WITH MUCOPOLYSACCHARIDOSIS TYPE I
Boudewijn A.W. van Binsbergen, BSc., Joris A. Van Dongen, MD. PhD., Linda Vriend, MD. PhD., Peter M. van Hasselt, MD. PhD.; Aebele B. Mink van der Molen, MD. PhD.
University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, Utrecht, Netherlands
Introduction: Mucopolysaccharidosis type I is a rare metabolic disease, in which incomplete degradation of the glycosaminoglycans dermatan sulfate and heparan sulfate accumulate within lysosomes and extracellular matrix. This accumulation is hypothesized to cause the different disease manifestations such as musculoskeletal disorders and carpal tunnel syndrome. Patients diagnosed with more severe types of mucopolysaccharidosis type I are treated with hematopoietic stem cell transplantation. Despite hematopoietic stem cell transplantation, disease manifestations such as carpal tunnel syndrome still persist. Therefore, this retrospective cohort study aims to improve the understanding of the pathophysiology of carpal tunnel syndrome in mucopolysaccharidosis type I, to assess the prevalence and evaluate efficacy of surgery on clinical symptoms and recurrence of carpal tunnel syndrome.
Materials & Methods: All patients were diagnosed with mucopolysaccharidosis type I and received treatment at our expert center. Thirty-four patients, born between 2001 and 2021 were included. Median age at latest follow-up was 11.71 years. Patient demographics, clinical symptoms of carpal tunnel syndrome pre- and post-carpal tunnel release and histopathological sections of the transverse carpal ligament were collected. To assess cumulative risks and determine hazard ratios, regression analyses were conducted and survival curves were plotted.
Results: Thirty of 34 mucopolysaccharidosis type I patients were diagnosed with carpal tunnel syndrome at a median age of 3.54 years. Only few patients expressed clinical symptoms. Twenty-one patients (70%) received carpal tunnel release at a median age of 4.29 years, with thirteen patients experiencing recurrence. Highest risk of developing carpal tunnel syndrome was within the first five to six years of age. In 8 out of 11 patients accumulation of these glycosaminoglycans within lysosomes was still observed, despite successful hematopoietic stem cell transplantation.
Conclusions: This study observed that 88.2% of mucopolysaccharidosis type I patients developed carpal tunnel syndrome. Majority of these patients did not express clinical symptoms, and three in five patients experienced recurrence of carpal tunnel syndrome after carpal tunnel release surgery.
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