Main Article Content
Carpal tunnel syndrome (CTS) is rare in children but is a recognised complication of the mucopolysaccharidoses (MPS). Clinicians should have a low threshold of suspicion for CTS in this group as symptoms may be atypical or minimal. If untreated, CTS can cause significant loss of hand function. We present findings in 11 children with mucopolysaccharidoses and suspected CTS, and propose guidelines for screening for CTS in children with these disorders.
Clinical and electrodiagnostic data of 11 children with mucopolysaccharidoses, who were suspected on clinical grounds to have CTS, was reviewed. All subjects underwent motor and sensory conduction studies of bilateral median and ulnar nerves. The presence of carpal tunnel syndrome and its severity was determined. Subsequent details of intervention(s) and recurrence were noted.
Three children had MPS I, five had MPS II, one had MPS III and two had MPS IV. Seven had motor and three sensory features referable to median nerve compression. Nine of the eleven children (2/3 with MPS I, 5/5 with MPS II, 0/1 with MPS III, 2/2 with MPS IV) had median neuropathies at the wrist, (eight bilateral, one unilateral) which were mild in three, moderate in five, and severe in one. Three children presented with symptoms at five years age. Six underwent median nerve decompression. Four of these had recurrent symptoms several years after surgery, which was confirmed on nerve conduction studies in two cases. To the best of our knowledge, this is the first report of carpal tunnel syndrome in MPS IV.
Some children with mucopolysaccharidoses experience early development of at least moderately severe carpal tunnel syndrome. We recommend screening for median neuropathies at the wrist from age 5 years for children with mucopolysaccharidoses, particularly types I, II and IV, regardless of their symptoms of CTS, and of the treatment received for mucopolysaccharidosis.
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).
1. Poilvache P, Carlier A, Rombouts JJ, Partoune E, Lejeune G (1989) Carpal tunnel syndrome in childhood: report of five new cases.J Pediatr Orthop 9 (6):687-90. Pubmed
3. Marks, Dawn B., Swanson Todd, Sandra I Kim, Marc Glucksman (2007). Biochemistry and molecular biology. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins.
4. National Institute of Neurological Disorders and Stroke: Mucopolysaccharidosis Fact Sheet. Online version. Updated May 2010. Retrieved from http://www.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidoses.htm
5. Haddad FS, Jones DH, Vellodi A, Kane N, Pitt MC (1997) Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses.J Bone Joint Surg Br 79 (4):576-82. Pubmed
6. Yuen A, Dowling G, Johnstone B, Kornberg A, Coombs C (2007) Carpal tunnel syndrome in children with mucopolysaccaridoses.J Child Neurol 22 (3):260-3. Crossref Pubmed
7. Wraith JE, Alani SM (1990) Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders.Arch Dis Child 65 (9):962-3. Pubmed
8. White K, Kim T, Neufeld JA (2010) Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses.J Pediatr Rehabil Med 3 (1):57-62. Crossref Pubmed
9. Cai F, Zhang J (1997) Study of nerve conduction and late responses in normal Chinese infants, children, and adults.J Child Neurol 12 (1):13-8. Pubmed
10. Martinez AC, Perez Conde MC, del Campo F, Barrio M, Gutierrez AM, Lopez E (1978) Sensory and mixed conduction velocity in infancy and childhood. I. Normal parameters in median, ulnar and sural nerves.Electromyogr Clin Neurophysiol 18 (6):487-504. Pubmed
11. Werner RA, Andary M (2011) Electrodiagnostic evaluation of carpal tunnel syndrome.Muscle Nerve 44 (4):597-607. Crossref Pubmed
12. MacDougal B, Weeks PM, Wray RC (1977) Median nerve compression and trigger finger in the mucopolysaccharidoses and related diseases.Plast Reconstr Surg 59 (2):260-3. Pubmed
13. Brik R, Mandel H, Aizin A, Goldscher D, Ziegler M, Bialik V et al. (1993) Mucolipidosis III presenting as a rheumatological disorder.J Rheumatol 20 (1):133-6. Pubmed
14. Kwon JY, Ko K, Sohn YB, Kim SJ, Park SW, Kim SH et al. (2011) High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome).Am J Med Genet A 155A (6):1329-35. Crossref Pubmed
15. Kelly TE, Thomas GH, Taylor HA, McKusick VA, Sly WS, Glaser JH et al. (1975) Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients.Johns Hopkins Med J 137 (4):156-75. Pubmed
16. White KK, Karol LA, White DR, Hale S (2011) Musculoskeletal manifestations of Sanfilippo Syndrome (mucopolysaccharidosis type III).J Pediatr Orthop 31 (5):594-8. Crossref Pubmed
17. Bona I, Vial C, Brunet P, Couturier JC, Girard-Madoux M, Bady B et al. (1994) Carpal tunnel syndrome in Mucopolysaccharidoses. A report of four cases in child.Electromyogr Clin Neurophysiol 34 (8):471-5. Pubmed
19. Van Heest AE, House J, Krivit W, Walker K (1998) Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders.J Hand Surg Am 23 (2):236-43. Crossref Pubmed
20. Field RE, Buchanan JA, Copplemans MG, Aichroth PM (1994) Bone-marrow transplantation in Hurler's syndrome. Effect on skeletal development.J Bone Joint Surg Br 76 (6):975-81. Pubmed
21. Guffon N, Souillet G, Maire I, Straczek J, Guibaud P (1998) Follow-up of nine patients with Hurler syndrome after bone marrow transplantation.J Pediatr 133 (1):119-25. Pubmed
22. Gabrielli O, Clarke LA, Bruni S, Coppa GV (2010) Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up.Pediatrics 125 (1):e183-7. Crossref Pubmed
23. Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM et al. (2006) A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome).Genet Med 8 (8):465-73. Crossref Pubmed
24. Muenzer J, Bodamer O, Burton B, Clarke L, Frenking GS, Giugliani R et al. (2012) The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.Eur J Pediatr 171 (1):181-8. Crossref Pubmed
25. Maurer K, Fenske A, Samii M (1980) Carpal tunnel syndrome combined with trigger finger in early childhood.J Neurol Neurosurg Psychiatry 43 (12):1148. Pubmed
26. Sri-Ram K, Vellodi A, Pitt M, Eastwood DM (2007) Carpal tunnel syndrome in lysosomal storage disorders: simple decompression or external neurolysis?J Pediatr Orthop B 16 (3):225-8. Crossref Pubmed
27. Gschwind C, Tonkin MA (1992) Carpal tunnel syndrome in children with mucopolysaccharidosis and related disorders.J Hand Surg Am 17 (1):44-7. Pubmed
29. Arn P, Wraith JE, Underhill L (2009) Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry.J Pediatr 154 (6):859-64.e3. Crossref Pubmed
30. Link B, de Camargo Pinto LL, Giugliani R, Wraith JE, Guffon N, Eich E et al. (2010) Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.Orthop Rev (Pavia) 2 (2):e16. Crossref Pubmed