Journal of Clinical Orthopaedics | Vol 7 | Issue 1 |  Jan-Jun 2022 | page: 116-121 | Sharvin Sheth, Amit Jhala

DOI: 10.13107/jcorth.2022.v07i01.491

Author: Sharvin Sheth [1], Amit Jhala [1]

[1] Department of Spine Surgery, HCG Hospitals, Ahmedabad – 380006, India

Address of Correspondence
Dr. Amit Jhala,
Consultant Spine Surgeon and Chief, Department. of Spine Surgery, HCG Hospitals, Mithakali 6-roads, Ahmedabad, 380006, India.
E-mail: acjhala@gmail.com

Abstract

Mucopolysaccharidosis (MPS) is a group of inherited metabolic disorders caused due to abnormal storage of mucopolysaccharides in different tissues of the body. They are autosomal recessive disorders, except MPS II which has an X-linked recessive pattern. Musculoskeletal manifestations occur due to disturbance in bone remodeling and improper development of ossification centers. Thoracolumbar kyphosis is the most common spinal pathology resulting from abnormal vertebral end plate ossification and growth arrest as well as hypotonia and spinal musculature imbalance. The increased life span as a result of medical treatment and lack of osseous penetration of enzyme replacement has raised the issue of thoracolumbar dysplasia and resultant deformity. Here, we discuss a case report of progressive thoracolumbar spinal deformity in two siblings suffering from MPS who underwent spine deformity correction surgeries, and literature review for the same.

Keywords: Mucopolysaccharidosis, spine deformity, scoliosis correction

References

1.  Lowry RB, Renwick DH. Relative frequency of the Hurler and Hunter syndromes. N Engl J Med 1971;284:221-2.
2. Muenzer J. The mucopolysaccharidoses: A heterogeneous group of disorders with variable paediatric presentations. J Pediatr 2004;144 Suppl 5:S27-34.
3. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54.
4. Hopwood JJ, Morris CP. The mucopolysaccharidoses: Diagnosis, molecular genetics and treatment. Mol Biol Med 1990;7:381-404.
5. Natowicz MR, Short MP, Wang Y, Dickersin GR, Gebhardt MC, Rosenthal DI, et al. Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med 1996;335:1029-33.
6. Rekka P, Rathna PV, Jagadeesh S, Seshadri S. Mucopolysaccharidoses Type IV A(Morquio syndrome): Acase series of three siblings. J Indian Soc Pedod Prev Dent 2012;30:66-9.
7. Garn SM, Hurme VO. Dental defects in three siblings afflicted. with Morquio’s disease. Br Dent J 1952;93:210-2.
8. Schmidt M, Breyer S, Löbel U, Yarar S, Stücker R, Ullrich K, et al. Musculoskeletal manifestations in mucopolysaccharidosis Type I (Hurler syndrome) following hematopoietic stem cell transplantation. Orphanet J Rare Dis 2016;11:93.
9. White KK. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford) 2011;50 Suppl 5:v26-33.
10. Muenzer J, Wraith JE, Clarke LA. Mucopolysaccharidosis I: Management and treatment guidelines. Pediatrics 2009;123:19-29.
11. Wilson S, Brömme D. Potential role of cathepsin K in the pathophysiology of mucopolysaccharidoses. J Pediatr Rehabil Med 2010;3:139-46.
12. Simonaro CM, D’Angelo M, He X, Eliyahu E, Shtraizent N, Haskins ME, 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.
13. Simonaro CM, Ge Y, Eliyahu E, He X, Jepsen KJ, Schuchman EH. Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses. Proc Natl Acad Sci USA 2010;107:222-7.
14. Roberts SB, Dryden R, Tsirikos AI. Thoracolumbar kyphosis in patients with mucopolysaccharidoses: Clinical outcomes and predictive radiographic factors for progression of deformity. Bone Joint J 2016 Feb;98-B:229-37.
15. Tandon V, Williamson JB, Cowie RA, Wraith JE. Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br 1996;78:938-44.
16. Taccone A, Donati PT, Marzoli A, Dell’Acqua A, Gatti R, Leone D. Mucopolysaccharidosis: Thickening of dura mater at the craniocervical junction and other CT/MRI findings. Pediatr Radiol 1993;23:349-52.
17. Dickson PI, Ellinwood NM, Brown JR, Witt RG, Le SQ, Passage MB, et al. Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I. Mol Genet Metab 2012;106:68-72.
18. Hite SH, Peters C, Krivit W. Correction of odontoid dysplasia following bone-marrow transplantation and engraftment (in Hurler syndrome MPS 1H). Pediatr Radiol 2000;30:464-70.
19. Miebach E, Church H, Cooper A, Mercer J, Tylee K, Wynn RF, et al. The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis Type I H (Hurler syndrome). J Inherit Metab Dis 2011;34:755-61.
20. Yasin MN, Sacho R, Oxborrow NJ, Wraith JE, Williamson JB, Siddique I. Thoracolumbar kyphosis in treated mucopolysaccharidosis 1 (Hurler syndrome). Spine (Phila Pa. 1976) 2014;39:381-7.
21. van der Linden MH, Kruyt MC, Sakkers RJ, de Koning TJ, Oner FC, Castelein RM. Orthopaedic management of Hurler’s disease after hematopoietic stem cell transplantation: A systematic review. J Inherit Metab Dis 2011;34:657-69.
22. Souillet G, Guffon N, Maire I, Pujol M, Taylor P, Sevin F, 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.
23. Clarke LA, Wraith JE, Beck M, Kolodny EH, Pastores GM, Muenzer J, et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 2009;123:229-40.
24. Muenzer J, Beck M, Eng CM, Giugliani R, Harmatz P, Martin R, et al. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med 2011;13:95-101.
25. Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S. Musculoskeletal manifestations of Hurler syndrome: Long-term follow-up after bone marrow trans-plantation. J Pediatr Orthop 2004;24:97-101.
26. Dornelles AD, de Camargo Pinto LL, de Paula AC, Steiner CE, Lourenço CM, Kim CA, et al. Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil network. Genet Mol Biol 2014;37:23-9.
27. Stoop FJ. Prevalence and development of orthopaedic symptoms in the dutch hurler patient population after haematopoietic stem cell transplantation. JIMD Rep 2013;9:17-29.
28. Mac-Thiong JM, Labelle H, Berthonnaud E, Betz RR, Roussouly P. Sagittal spinopelvic balance in normal children and adolescents. Eur Spine J 2007;16:227-34.
29. Genevois KA, Garin C, Solla F, Guffon N, Kohler R. Surgical management of thoracolumbar kyphosis in mucopolysaccharidosis Type 1 in a reference center. J Inherit Metab Dis 2014;37:69-78.
30. Dalvie SS, Noordeen MH, Vellodi A. Anterior instrumented fusion for thoracolumbar kyphosis in mucopolysaccharidosis. Spine (Phila Pa 1976) 2001;26:E539-41.
31. Ain MC, Browne JA. Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia. Spine (Phila Pa 1976) 2004;29:2075-80.
32. McMaster MJ, Glasby MA, Singh H, Cunningham S. Lung function in congenital kyphosis and kyphoscoliosis. J Spinal Disord Tech 2007;20:203-8.

 (Abstract    Full Text HTML)   (Download PDF)