Mucopolysaccharidoses

Current Rheumatology Reports

Volumn 16, Issue 1, 2014, Pages

  Cimaz, Rolando ^a   La Torre, Francesco ^b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b Division of Medical Oncology   (Italy)

Author keywords

Attenuated phenotypes; Carpal tunnel syndrome; Diagnosis; Dysostosis multiplex; Joint contractures; Joint stiffness; Mucopolysaccharidoses; Musculoskeletal manifestations; Treatment

Indexed keywords

ARTICLE; CARPAL TUNNEL SYNDROME; CLINICAL FEATURE; DISEASE ASSOCIATION; ENZYME REPLACEMENT; GROWTH DISORDER; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HURLER SYNDROME; HYPOPLASIA; JOINT CONTRACTURE; JOINT LAXITY; JOINT STIFFNESS; LIQUID CHROMATOGRAPHY; MUCOPOLYSACCHARIDOSIS; NONHUMAN; ODONTOID HYPOPLASIA; PHENOTYPE; TANDEM MASS SPECTROMETRY; TREATMENT PLANNING; TRIGGER FINGER; ARTHROPATHY; DELAYED DIAGNOSIS; PATHOLOGY; REVIEW;

CARPAL TUNNEL SYNDROME; DELAYED DIAGNOSIS; HUMANS; JOINT DISEASES; MUCOPOLYSACCHARIDOSES;

EID: 84887712766     PISSN: 15233774     EISSN: 15346307     Source Type: Journal    
DOI: 10.1007/s11926-013-0389-0     Document Type: Article

References (87)

1. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50 SUPPL. 5:v4-12. An excellent overview of the MPS disorders emphasising pathophysiology, diagnosis, and treatment options.
2. Neufeld EU, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, editor. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p. 3421-52.
3. Tomatsu S, Okamura K, Maeda H, et al. Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis. 2005;28:187-202.
4. Tomatsu S, Gutierrez MA, Ishimaru T, et al. Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis. 2005;28:743-57.
5. Federico A, Capece G, Cecio A, et al. Sanfilippo B syndrome (MPS III B): case report with analysis of CSF mucopolysaccharides and conjunctival biopsy. J Neurol. 1981;225:77-83.
6. Munoz-Rojas MV, Vieira T, Costa R, et al. Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression. Am J Med Genet A. 2008;146A:2538-44.
7. Tuschl K, Gal A, Paschke E, et al. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol. 2005;32:270-2.
8. Sukegawa K, Matsuzaki T, Fukuda S, et al. Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation. Clin Genet. 1998;53:96-101.
9. Schulze-Frenking G, Jones SA, Roberts J, et al. Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II. J Inherit Metab Dis. 2011;34:203-8.
10. Cimaz R, Vijay S, Haase C, et al. Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome. Clin Exp Rheumatol. 2006;24(2):196-202.
11. Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology (Oxford). 2011;50 SUPPL. 5:v19-25. A comprehensive review of clinical rheumatological aspects of MPS patients.
12. Vijay S, Wraith JE. Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr. 2005;94:872-7.
13. Cudry S, Tigaud I, Froissart R, et al. MPS II in females: molecular basis of two different cases. J Med Genet. 2000;37:E29.
14. Peters C. Hematopoietic cell transplantation for storage diseases. In: Blume KG, Forman SJ, Appelbaum FR, editors. Hematopoietic stem cell transplantation. Malden: Blackwell Science; 2004. p. 1455-70.
15. McGill JJ, Inwood AC, Coman DJ, et al. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age - a sibling control study. Clin Genet. 2010;77:492-8.
16. Manger B. Rheumatological manifestations are key in the early diagnosis of mucopolysaccharidosis type I. Eur Musculoskelet Rev. 2008;1-6.
17. Petty RE, Southwood TR, Manners P, et al. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol. 2004;31:390-2.
18. Cimaz R, Coppa GV, Kone-Paut I, et al. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J. 2009;7:18.
19. Aldenhoven M, Sakkers RJ, Boelens J, et al. Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 2009;68:1659-65.
20. Pastores GM, Meere PA. Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type 1). Curr Opin Rheumatol. 2005;17:70-8.
21. Del Rosso A, Matucci-Cerinic M, De Giorgio F, et al. Rheumatological manifestations in diabetes mellitus. Curr Diabetes Rev. 2006;2:455-66.
22. Thomas JA, Beck M, Clarke JT, et al. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis. 2010;33:421-7. This paper reveals the characteristics of the most frequent attenuated form of MPS disorders: Scheie syndrome.
23. White KK, Karol LA, White DR, et al. Musculoskeletal manifestations of Sanfilippo syndrome (mucopolysaccharidosis type III). J Pediatr Orthop. 2011;31:594-8.
24. Link B, de Camargo Pinto LL, Giugliani R, et al. Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey. Orthop Rev. 2010;2:e16.
25. Al-Qatan MM, Thomson HG, Clarke HM. Carpal tunnel syndrome in children and adolescents with no history of trauma. J Hand Surg. 1996;21B:108-11.
26. Yuen A, Dowling G, Johnstone B, et al. Carpal tunnel syndrome in children with mucopolysaccaridoses. J Child Neurol. 2007;22:260-3.
27. Van Heest AE, House J, Krivit W, Walker K. Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders. J Hand Surg. 1998;23A:236-43.
28. MacDougal B, Weeks PM, Wray RC. Median nerve compression and trigger finger in the mucopolysaccharidoses and related diseases. Plast Reconstr Surg. 1977;59:260-3.
29. Maurer K, Fenske A, Samii M. Carpal tunnel syndrome combined with trigger finger in early childhood. J Neurol Neurosurg Psychiatry. 1980;3:1148.
30. Haddad FS, Hill RA, Jones DH. Triggering in the mucopolysaccharidoses. J Pediatr Orthop B. 1998;7:138-40.
31. Kim HR, Lee SH. Ultrasonographic assessment of clinically diagnosed trigger fingers. Rheumatol Int. 2010;30:1455-8.
32. Serafini G, Derchi LE, Quadri P, et al. High resolution sonography of the flexor tendons in trigger fingers. J Ultrasound Med. 1996;15:213-9.
33. Ryzewicz M, Wolf JM. Trigger digits: principles, management, and complications. J Hand Surg [Am]. 2006;31:135-46.
34. Pastores GM. Musculoskeletal complications encountered in the lysosomal storage disorders. Best Pract Res Clin Rheumatol. 2008;22:937-47.
35. Simonaro CM, Haskins ME, Schuchman EH. Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses. Lab Invest. 2001;81:1319-28.
36. Simonaro CM, D'Angelo M, Haskins ME, Schuchman EH. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr Res. 2005;57:701-7.
37. Simonaro CM, D'Angelo M, He X, et al. Mechanism of glycosaminoglycan- mediated bone and joint disease:implications for the mucopolysaccharidoses and other connective tissue diseases. Am J Pathol. 2008;172:112-22.
38. Wraith JE. The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother. 2005;6:489-506.
39. Schmidt H, Ullrich K, von Lengerke HJ, et al. Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome). Pediatr Radiol. 1987;17:409-14.
40. Chen SJ, Li YW, Wang TR, Hsu JC. Bony changes in common mucopolysaccharidoses. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1996;37:178-84.
41. Tandon V, Williamson JB, Cowie RA, et al. Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br. 1996;78:938-44.
42. Weisstein JS, Delgado E, Steinbach LS, et al. Musculoskeletal manifestations of Hurler syndrome:long-term follow-up after bone marrow transplantation. J Pediatr Orthop. 2004;24:97-101.
43. White KK. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford). 2011;50 SUPPL. 5:v26-33. A comprehensive review of orthopedic aspects of MPS disorders.
44. Field RE, Buchanan JA, Copplemans MG, et al. Bone-marrow transplantation in Hurler's syndrome. Effect on skeletal development. J Bone Joint Surg Br. 1994;76:975-81.
45. White KK, Steinman S, Mubarak SJ. Cervical stenosis and spastic quadriparesis in morquio disease (MPS IV). A case report with twenty-six-year follow-up. J Bone Joint Surg Am. 2009;91:438-42.
46. Kanazawa T, Yasunaga Y, Ikuta Y, et al. Femoral head dysplasia in Morquio disease type A: bilateral varus osteotomy of the femur. Acta Orthop Scand. 2001;72:18-21.
47. Taylor C, Brady P, O'Meara A, et al. Mobility in Hurler syndrome. J Pediatr Orthop. 2008;28:163-8.
48. Montano AM, Tomatsu S, Gottesman GS, et al. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis. 2007;30:165-74.
49. Odunusi E, Peters C, Krivit W, et al. Genu valgum deformity in Hurler syndrome after hematopoietic stem cell transplantation: correction by surgical intervention. J Pediatr Orthop. 1999;19:270-4.
50. De Waal Malefijt MC, van Kampen A, van Gemund JJ. Total knee arthroplasty in patients with inherited dwarfism -a report of five knee replacements in two patients with Morquio's disease type A and one with spondylo-epiphyseal dysplasia. Arch Orthop Trauma Surg. 2000;120:179-82.
51. Pizzutillo PD, Osterkamp JA, Scott Jr CI, Lee MS. Atlantoaxial instability in mucopolysaccharidosis type VII. J Pediatr Orthop. 1989;9:76-8.
52. Thomas SL, Childress MH, Quinton B. Hypoplasia of the odontoid with atlanto-axial subluxation in Hurler's syndrome. Pediatr Radiol. 1985;15:353-4.
53. Brill CB, Rose JS, Godmilow L, et al. Spastic quadriparesis due to C1-C2 subluxation in Hurler syndrome. J Pediatr. 1978;92:441-3.
54. Kacher E, Maestro RD. Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation. Neurosurgery. 2000;47:223-8.
55. Paulson GW, Meagher JN, Burkhart J. Spinal pachymeningitis secondary to mucopolysaccharidosis. J Neurosurg. 1974;41:618-21.
56. Balani KG, Krivit W, Carpenter BL, et al. Children with mucopolysaccharidosis: perioperative care, morbidity, mortality and new findings. J Pediatr Surg. 1993;28:403-8.
57. Nelson J, Thomas PS. Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part III: odontoid dysplasia. Clin Genet. 1988;33:126-30.
58. Mikles M, Stanton RP. A review of Morquio syndrome. Am J Orthop. 1997;26:533-40.
59. Northover H, Cowie RA, Wraith JE. Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis. 1996;19:357-65.
60. Silveri CP, Kaplan FS, Fallon MD, et al. Hurler syndrome with special reference to histologic abnormalities of the growth plate. Clin Orthop. 1991;269:305-11.
61. Polgreen LE, Miller BS. Growth patterns and the use of growth hormone in the mucopolysaccharidoses. J Pediatr Rehabil Med. 2010;3:25-38.
62. Scheie HG, Hambrick Jr GW, Barness LA. A newly recognized forme fruste of Hurler's disease (gargoylism). Am J Ophthalmol. 1962;53:753-69.
63. Vieira T, Schwartz I, Munoz V et al. Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis? Am J Med Genet A. 2008;146A(13):1741-47.
64. Arn P, Wraith JE, Underhill L. Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry. J Pediatr. 2009;154(6):859-864.
65. Mahalingam K, Janani S, Priya S, et al. Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives. Indian J Pediatr. 2004;71:29-32.
66. Hall CW, Liebaers I, Di Natale P, Neufeld EF. Enzymatic diagnosis of the genetic mucopolysaccharide storage disorders. Methods Enzymol. 1978;50:439-56.
67. Young EP. Prenatal diagnosis of Hurler disease by analysis of alpha-iduronidase in chorionic villi. J Inherit Metab Dis. 1992;15:224-30.
68. Filocamo M, Morrone A. Lysosomal storage disorders: molecular basis and laboratory testing. Hum Genomics. 2011;5:156-69.
69. Gelb MH, Turecek F, Scott CR, Chamoles NA. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis. 2006;29:397-404.
70. Meikle PJ, Grasby DJ, Dean CJ, et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab. 2006;88:307-14.
71. De Ruijter J, de Ru MH, Wagemans T, et al. Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III. Mol Genet Metab. 2012;107(4):705-10.
72. Tomatsu S, Fujii T, Fukushi M, et al. Newborn screening and diagnosis of mucopolysaccharidoses. Mol Genet Metab. 2013. doi: 10.1016/j.ymgme.2013.06.007.
73. Souillet G, Guffon N, Maire I, et al. Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant. 2003;31:1105-17.
74. Herskhovitz E, Young E, Rainer J, et al. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI):long-term follow-up. J Inherit Metab Dis. 1999;22:50-62.
75. Yamada Y, Kato K, Sukegawa K. Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation. Bone Marrow Transplant. 1998;21:629-34.
76. Braunlin EA, Stauffer NR, Peters CH, et al. Usefulness of bone marrow transplantation in the Hurler syndrome. Am J Cardiol. 2003;92:882-6.
77. Prasad VK, Kurtzberg J. Transplant outcomes in mucopolysaccharidoses. Semin Hematol. 2010;47:59-69.
78. Boelens JJ, Wynn RF, O'Meara A, et al. Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure. Bone Marrow Transplant. 2007;40:225-33.
79. Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis. 2010;5:5.
80. Wraith JE, Beck M, Lane R, et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). Pediatrics. 2007;120:e37-46.
81. Clarke LA, Wraith JE, Beck M, et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics. 2009;123:229-40.
82. Muenzer J, Wraith JE, Beck M, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med. 2006;8:465-73.
83. Harmatz P, Giugliani R, Schwartz I, MPS VI Study Group, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr. 2006;148:533-9.
84. Muenzer J, Beck M, Eng CM, et al. Long-term, open labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med. 2011;13:95-101.
85. Muenzer J, Beck M, Giugliani R, et al. Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey. Genet Med. 2011;13:102-9.
86. Mendelsohn NJ, Harmatz P, Bodamer O, Hunter Outcome Survey Investigators, et al. Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Genet Med. 2010;12:816-22.
87. Valayannopoulos V, Wijburg FA. Therapy for the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50 SUPPL. 5:v49-59. An excellent review of treatment options for MPS disorders.