Step-up approach for surgical treatment of the spinal canal stenosis in a patient with mucopolysaccharidosis type VI (Maroto–Lami syndrome)

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Abstract


The article presents a clinical case of step-up surgical treatment of spinal canal stenosis at the craniovertebral and thoracolumbar level in a patient with mucopolysaccharidosis (MPS) type VI. The treatment method gives an opportunity to achieve a satisfactory result at the background of severe metabolic disease.


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About the authors

Sergey V. Kolesov

N.N. Priorov Central Institute of Traumatology and Orthopedics

Author for correspondence.
Email: dr-kolesov@yandex.ru

Russian Federation, Moscow

Dr. Sci. (Med.), Professor, traumatologist-orthopedist, Head of the Department of Spinal Pathology

Vladimir S. Pereverzev

N.N. Priorov Central Institute of Traumatology and Orthopedics

Email: vcpereverz@gmail.com

Russian Federation, Moscow

traumatologist-orthopedist of the Department of Spinal Pathology

Vladimir V. Shvets

N.N. Priorov Central Institute of Traumatology and Orthopedics

Email: vshvecv@yandex.ru

Russian Federation, Moscow

Dr. Sci. (Med.), traumatologist-orthopedist, leading researcher of the Department of Spinal Pathology

Arkadiy I. Kazmin

N.N. Priorov Central Institute of Traumatology and Orthopedics

Email: kazmin.cito@mail.ru

Russian Federation, Moscow

Cand. Sci. (Med.), traumatologist-orthopedist of the Department of Spinal Pathology

Maxim L. Sazhnev

N.N. Priorov Central Institute of Traumatology and Orthopedics

Email: mak.sajnev@yandex.ru
Moscow

Cand. Sci. (Med.), traumatologist-orthopedist of the Department of Spinal Pathology

Andrey A. Panteleev

N.N. Priorov Central Institute of Traumatology and Orthopedics

Email: apanteleyev@gmail.com

Russian Federation, Moscow

traumatologist-orthopedist of the Department of Spinal Pathology

Igor A. Kruglikov

N.N. Priorov Central Institute of Traumatology and Orthopedics

Email: igorkruglikov@yandex.ru

Russian Federation, Moscow

anesthesiologist-resuscitator

References

  1. Whitley CB, Belani KG, Chang PN, et al. Long-term outcome of Hurler syndrome following bone marrow transplantation. Am J Med Genet. 1993;46(2):209–218. doi: 10.1002/ajmg.1320460222
  2. Alonzo-Rojo A, Garcia-Ortiz JE, Ortiz-Aranda M, et al. Clinical features of Mexican patients with Mucopolysaccharidosis type I. Genet Mol Res. 2017;16(3):1–8. doi: 10.4238/gmr16032602
  3. Giugliani R, Federhen A, Rojas MVM, et al. Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment. Genet Mol Biol. 2010;33(4):589–604. doi: 10.1590/S1415-47572010005000093
  4. Moore D, Connock MJ, Wraith E, Lavery C. The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis. 2008;3:24. doi: 10.1186/1750-1172-3-24
  5. Khan SA, Peracha H, Ballhausen D, et al. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017;121(3):227–240. doi: 10.1016/j.ymgme.2017.05.016
  6. Alden TD, Amartino HH, Dalla Corte A, et al. Surgical Management of Neurological Manifestations of Mucopolysaccharidosis Disorders. Vol 122S. United States: Elsevier Inc; 2017. doi: 10.1016/j.ymgme.2017.09.011
  7. Williams N, Cundy PJ, Eastwod DM. Surgical Management of Thoracolumbar Kyphosis in Patients with Mucopolysaccharidosis. Spine (Phila Pa 1976). 2017;42(23):1817–1825. doi: 10.1097/BRS.0000000000002242
  8. Tandon V, Williamson JB, Cowie RA, Wraith JE. Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br. 1996;78(6):938–944.
  9. Borlot F, Arantes PR, Quaio CR, et al. Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement. Am J Med Genet Part A. 2014;164(5):1162–1169. doi: 10.1002/ajmg.a.36424
  10. Kachur E, Del Maestro R. Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation. Neurosurgery. 2000;47(1):223–229.
  11. Bradley WGJ, Scalzo D, Queralt J, et al. Normal-pressure hydrocephalus: evaluation with cerebrospinal fluid flow measurements at MR imaging. Radiology. 1996;198(2):523–529. doi: 10.1148/radiology.198.2.8596861
  12. Stoquart-Elsankari S, Lehmann P, Villette A, et al. A phase-contrast MRI study of physiologic cerebral venous flow. J Cereb Blood Flow Metab. 2009;29(6):1208–1215. doi: 10.1038/jcbfm.2009.29
  13. Charrow J, Alden TD, Breathnach CAR, et al. Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. Mol Genet Metab. 2015;114(1):11–18. doi: 10.1016/j.ymgme.2014.10.010
  14. Lampe C, Lampe C, Schwarz M, et al. 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):1005–1013. doi: 10.1007/s10545-013-9591-5
  15. Kolesov SV, Mikhaylova LK, Kolbovsky DA, Pereverzev VS. Surgical Treatment of Cervical Stenosis in Patients With Mucopolysaccharidosis: Systematic Review. Traumatol Orthop Russ. 2018;24(2):127–137. doi: 10.21823/2311-2905-2018-24-2-127-137
  16. Mut M, Cila A, Varli K, Akalan N. Multilevel myelopathy in Maroteaux-Lamy syndrome and review of the literature. Clin Neurol Neurosurg. 2005;107(3):230–235. doi: 10.1016/j.clineuro.2004.05.003
  17. Lee C, Dineen TE, Brack M, et al. The mucopolysaccharidoses: characterization by cranial MR imaging. AJNR Am J Neuroradiol. 1993;14(6):1285–1292.
  18. Hendriksz CJ, Berger KI, Giugliani R, et al. International guidelines for the management and treatment of Morquio a syndrome. Am J Med Genet Part A. 2015;167(1):11–25. doi: 10.1002/ajmg.a.36833
  19. Al Sawaf S, Mayatepek E, Hoffmann B. Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed. J Inherit Metab Dis. 2008;31(4):473–480. doi: 10.1007/s10545-008-0878-x
  20. Dalla-Corte A, Souza CFM, Vairo F, et al. An algorithm to assess the need for CSF shunting in mucopolysaccharidosis patients. Mol Genet Metab. 2018;120(1):S39. doi: 10.1016/j.ymgme.2016.11.075
  21. Mikhailova LK, Kuleshov AA, Arzhakova NI, et al. Maroteaux-Lamy syndrome–mucopolysaccharidosis type VI: a case report (errors and complications). Genij Ortop. 2017;23(1):80–84. doi: 10.18019/1028-4427-2017-23-1-80-84
  22. Semenza GL, Pyeritz RE. Respiratory complications of mucopolysaccharide storage disorders. Medicine (Baltimore). 1988;67(4):209–219.
  23. Muhlebach MS, Shaffer CB, Georges L, et al. Bronchoscopy and airway management in patients with mucopolysaccharidoses (MPS). Pediatr Pulmonol. 2013;48(6):601–607. doi: 10.1002/ppul.22629
  24. Munoz-Rojas M-V, 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(19):2538–2544. doi: 10.1002/ajmg.a.32294
  25. Muenzer J, Hendriksz CJ, Fan Z, et al. A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II. Genet Med. 2016;18(1):73–81. doi: 10.1038/gim.2015.36
  26. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology. 2011;50(SUPPL. 5). doi: 10.1093/rheumatology/ker394

Supplementary files

Supplementary Files Action
1.
Fig. 1. The appearance of a 19-year-old patient with mucopolysaccharidosis type VI: a — before surgery; b — after surgery, there is an improvement in the sagittal profile

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2.
Fig. 2. Magnetic resonance imaging of the cervical spine, marked stenosis of the spinal canal at the level of the craniovertebral junction (arrows)

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3.
Fig. 3. Radiographs and computed tomogram of the cervical spine after surgery, the position of the hardware is correct

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4.
Fig. 4. Magnetic resonance imaging of the thoracolumbar spine, there is a focus of myelopathy at the level of the Th11 vertebra

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5.
Fig. 5. Radiographs of the thoracolumbar spine after surgery, there is a pronounced correction of the deformity, the angle of correction was about 30º

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