Correcting Scoliosis in Rett Syndrome

Brett Rocos, Reinhard Zeller, Brett Rocos, Reinhard Zeller

Abstract

Objectives Rett syndrome is a rare disorder characterised by severe scoliosis in 80% of cases. In this retrospective case series, we analysed the radiographic, clinical, and functional outcomes of consecutive patients treated for scoliosis associated with Rett syndrome. We sought to understand the results of the treatment of scoliosis in Rett syndrome and evaluate the need to fuse to the pelvis. Methods A retrospective case series was used to analyse the radiographic, clinical, and functional outcomes of consecutive patients treated for Rett syndrome scoliosis between the ages of 10 and 8 years in a single tertiary paediatric spinal unit. Cases were identified through departmental and neurophysiological records, and patients were excluded if the diagnosis of Rett syndrome was not confirmed. Results Seven eligible cases were identified. At presentation, the mean coronal Cobb angle was 90.9°, mean sagittal Cobb 72.0°, and pelvic obliquity 24.5°. The mean post-operative improvement in coronal Cobb was 53.2° and pelvic obliquity reduced to 5.8°. These did not change during a mean follow up of 3.5 years. None showed any post-operative complications. Three patients with a mean 16.1° pelvic obliquity underwent a fusion to L5. The postoperative result in those cases remained stable at 3.5 years mean follow-up and full skeletal maturity. Conclusion Our data suggests that with modern technology, severe curves can be safely treated. Fusion to the pelvis is not necessary in patients with mild, flexible pelvic obliquity.

Keywords: neuromuscular scoliosis; rett; scoliosis; syndromic scoliosis.

Conflict of interest statement

Reinhard Zeller receives fellowship support from Spine Vision.

Copyright © 2021, Rocos et al.

Figures

Figure 1. Plain radiographs of a 11-year-old…
Figure 1. Plain radiographs of a 11-year-old female patient
a) AP and b) lateral plain radiograph of an 11-year-old female patient with a coronal angular deformity of 79.5◦ and kyphosis of 70.7◦ and pelvic obliquity of 12.1◦. c) AP and d) lateral post-operative radiographs showing posterior instrumented fusion of T2 to L5 with a coronal angular deformity of 23.1◦, kyphosis of 43.5◦ and pelvic obliquity of 1◦. This correction is maintained at five years in e) AP and f) lateral radiographs.

References

    1. Predictors of scoliosis in Rett syndrome. Ager S, Fyfe S, Christodoulou J, Jacoby P, Schmitt L, Leonard H. . J Child Neurol. 2006;21:809–813.
    1. Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. . Ann Neurol. 1988;23:425–428.
    1. Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Downs J, Bergman A, Carter P, et al. Spine. 2009;34:0–17.
    1. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. Amir RE, Fang P, Yu Z, et al. J Med Genet. 2005;42:0.
    1. Rett syndrome in Australia: a review of the epidemiology. Laurvick CL, de Klerk N, Bower C, et al. J Pediatr. 2006;148:347–352.
    1. Profiling scoliosis in Rett syndrome. Percy AK, Lee HS, Neul JL, et al. Pediatr Res. 2010;67:435–439.
    1. Scoliosis in Rett syndrome: clinical and biological aspects. Lidström J, Stokland E, Hagberg B. Spine. 1994;19:1632–1635.
    1. Rett syndrome: revised diagnostic criteria and nomenclature. Neul JL, Kaufmann WE, Glaze DG, et al. Ann Neurol. 2010;68:944–950.
    1. Orthopaedic manifestations of Rett syndrome. Guidera KJ, Borrelli J Jr, Raney E, Thompson-Rangel T, Ogden JA. J Pediatr Orthop. 1991;11:204–208.
    1. The orthopedic management of Rett syndrome. Hennessy MJ, Haas RH. J Child Neurol. 1988;3:0–7.
    1. Parental experiences of scoliosis management in Rett syndrome. Ager S, Downs J, Fyfe S, Leonard H. Disabil Rehabil. 2009;31:1917–1924.
    1. The incidence and natural history of scoliosis in Rett syndrome. Bassett GS, Tolo VT. Dev Med Child Neurol. 1990;32:963–966.
    1. Spinal deformity and disability in patients with Rett syndrome. Riise R, Brox JI, Sorensen R, Skjeldal OH. Dev Med Child Neurol. 2011;53:653–657.
    1. Orthopedic aspects of Rett syndrome [Article in French] Tanguy A. Ann Pediatr. 1993;40:237–241.
    1. Results of surgery for scoliosis in Rett syndrome. Kerr AM, Webb P, Prescott RJ, Milne Y. J Child Neurol. 2003;18:703–708.
    1. Scoliosis in Rett syndrome. Huang TJ, Lubicky JP, Hammerberg KW. . Orthop Rev. 1994;23:931–937.
    1. Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study. Downs J, Torode I, Wong K, et al. Dev Med Child Neurol. 2016;58:632–638.
    1. Impact of scoliosis surgery on activities of daily living in females with Rett syndrome. Downs J, Young D, de Klerk N, Bebbington A, Baikie G, Leonard H. J Pediatr Orthop. 2009;29:369–374.
    1. Scoliosis and Rett syndrome. Koop SE. Dev Med Child Neurol. 2011;53:582–583.
    1. Scoliosis in Rett syndrome: progression, comorbidities, and predictors. Killian JT, Lane JB, Lee HS, et al. Pediatr Neurol. 2017;70:20–25.
    1. Spinal cord monitoring for scoliosis surgery in Rett syndrome: can these patients be accurately monitored? Master DL, Thompson GH, Poe-Kochert C, Biro C. J Pediatr Orthop. 2008;28:342–346.
    1. Spinal fusion for scoliosis in Rett syndrome with an emphasis on respiratory failure and opioid usage. Rumbak DM, Mowrey W, Schwartz SW, Sarwahi V, Djukic A, Killinger JS, Katyal C. J Child Neurol. 2016;31:153–158.
    1. Multiple vertebral dislocation events after fusion for scoliosis in Rett syndrome. Pisano AJ, Wagner SC, Helgeson MD, Jex JW. Spine J. 2015;15:0–2.
    1. Spinal fusion for scoliosis in Rett syndrome with an emphasis on early postoperative complications. Gabos PG, Inan M, Thacker M, Borkhu B. Spine. 2012;37:0–4.

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