Mucopolysaccharidosis Type VI: Case Report
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Published:
Apr 24, 2023
Keywords:
Mucopolysaccharidosis, Maroteaux-Lamy syndrome, spinal cord compression, myelopathy
Main Article Content
Abstract
Mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome, is caused by a deficiency of the arylsulfatase B enzyme, which causes intracellular accumulation of dermatan sulfate. The risk of spinal cord compression is particularly high and frequent at the occipitocervical junction. Enzyme replacement therapy has been essential for patients with this disease; however, it has no effect on skeletal abnormalities, and its impact on spinal stability is still under study. An annual examination (neurological evaluation, radiography, magnetic resonance imaging, and somatosensory evoked potentials) is recommended. In case of anomalies, it should be repeated every 6 months. Despite the high anesthetic risk, myelopathy and progressive symptoms indicate the need for surgical decompression. We present the case of a 12-year-old girl with mucopolysaccharidosis type VI treated with enzyme replacement therapy since the age of 7, who came to the consultation with symptoms compatible with progressive high cervical myelopathy. She underwent occipitocervical decompression and fusion with enlargement of the foramen magnum. This disease is rare; therefore, multidisciplinary patient follow-up is imperative, as well as knowing the risk of spinal cord compression and its timely surgical treatment by spinal surgeons.
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How to Cite
Besse, M., Baigorria, J. F., Ambrosini, J. L., Baldasarre, R., Rosado Pardo, J. A., & Sarotto, A. J. (2023). Mucopolysaccharidosis Type VI: Case Report. Revista De La Asociación Argentina De Ortopedia Y Traumatología, 88(2), 187-198. https://doi.org/10.15417/issn.1852-7434.2023.88.2.1600
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Case Presentations
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13. Lampe C, Lampe C, Schwarz M, Müller-Forell W, Harmatz P, Mengel E. Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery. J Inherit Metab Dis 2013;36(6):1005-13. https://doi.org/10.1007/s10545-013-9591-5
https://doi.org/10.1093/rheumatology/ker393
2. Terai H, Nakamura H. Surgical management of spinal disorders in people with mucopolysaccharidoses. Int J Mol Sci 2020;21:1171. https://doi.org/10.3390/ijms21031171
3. Remondino RG, Tello CA, Noel M, Francheri Wilson A, Galaretto E, Bersusky E, et al. Clinical manifestations and surgical management of spinal lesions in patients with mucopolysaccharidosis: A report of 52 cases. Spine Deform 2019;7(2):298-303. https://doi.org/10.1016/j.jspd.2018.07.005
4. Horovitz DDG, Sá Pacheco Carneiro Magalhães T, Pena e Costa A, Carelli LE, Souza e Silva D, Freitas de Linhares e Riello AP, et al. Spinal cord compression in young children with type VI mucopolysaccharidosis. Mol Gen Metab 2011;104(3):295-300. https://doi.org/10.1016/j.ymgme.2011.07.019
5. Jurecka A, Opoka-Winiarska V, Jurkiewicz E, Marucha J, Tylki-Szymańska A. Spinal cord compression in
Maroteaux-Lamy syndrome: Case report and review of the literature with effects of enzyme replacement therapy. Pediatr Neurosurg 2012;48:191-8. https://doi.org/10.1159/000345635
6. Solanki GA, Sun PP, Martin KW, Hendriksz CJ, Lampe C, Guffon N, et al. Cervical cord compression in
mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP). Mol Gen
Metab 2016;118(4):310-8. https://doi.org/10.1016/j.ymgme.2016.06.001
7. Borlot F, Arantes P, Quaio C, da Silva Franco J, Lourenco C, Bertola D, et al. New insights in
mucopolysaccharidosis type VI: neurological perspective. Brain Dev 2014;36(7):585-92.
https://doi.org/10.1016/j.braindev.2013.07.016
8. Neufeld EF, Muenzer J. The mucopolysaccharidosis VI. En: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill; 2001:3421-52.
9. Bulut E, Pektas E, Sivri HS, Bilginer B, Umaroglu MM, Ozgen B. Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI. Br J Radiol 2018;91(1085):20170744.
https://doi.org/10.1259/bjr.20170744
10. Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis 2010;5:5. https://doi.org/10.1186/1750-1172-5-5
11. Lins CF, de Carvalho TL, de Moraes Carneiro ER, da Costa Mariz Filho PJ, Dias Mansur MC, dos Santos Moraes R, et al. MRI findings of the cervical spine in patients with mucopolysaccharidosis type VI: relationship with neurological physical examination. Clin Radiol 2020;75(6):441-7. https://doi.org/10.1016/j.crad.2020.01.007
12. Solanki GA, Alden TD, Burton BK, Giugliani R, Horovitz DD, Jones SA, et al. A multinational,
multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. Mol Gen Metab 2012;107(1-2):15-24. https://doi.org/10.1016/j.ymgme.2012.07.018
13. Lampe C, Lampe C, Schwarz M, Müller-Forell W, Harmatz P, Mengel E. Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery. J Inherit Metab Dis 2013;36(6):1005-13. https://doi.org/10.1007/s10545-013-9591-5