Carpal tunnel syndrome in patients with mucopolysaccharidosis: A literature review

Mucopolysaccharidoses (MPS) are hereditary and progressive metabolic disorders caused by inborn errors of metabolism (EM) that lead to a deficiency of enzymes that act on cell lysosomes.These enzymes are specifically involved in the metabolism of glycosaminoglycans (GAG), which start to accumulate in cells, tissues and organs. Carpal tunnel syndrome (CTS) is a neuropathy caused by entrapment of the median nerve (MN) at the level of the carpal tunnel (CT). Although CTS is the most common neuropathy caused by entrapment in adults, it is extremely rare in children, however, the most common etiology in the pediatric population, excluding the idiopathic one, is the MPS. Objective: To review and describe the main aspects of the relationship between carpal tunnel syndrome and mucopolysaccharidoses. Methods: Articles published between 2015 and 2020 indexed in PubMed, LILACS and Scielo databases were consulted. Conclusion: The results of this study allow us to conclude that the main cause of CTS in children and adolescents is MPS, a spectrum of systemic diseases with variable and unpredictable presentation. In addition, parents of patients with MPS report a worse perception of hand function and the child's ability to perform activities of daily living. An efficient screening protocol employing neuroconduction studies or even MN ultrasound should be used, as the benefit of early intervention in CTS been demonstrated in different studies in patients with MPS.