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Pitfalls and management of corrective spinal surgery in trisomy 9 mosaicism: a report of three cases

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Abstract

Purpose

The aim of this case series is to present the outcomes of surgical correction of hyperkyphosis, and subsequent management of complications for three patients with a rare chromosomopathy, Trisomy 9 Mosaicism (T9M).

Methods

Case series with 2 year outcomes following index surgery.

Results

Case 1 presented at 9 years of age with 103° of kyphosis (T3-T10), which progressed to 118° despite bracing. Case 2 presented at 7 years of age with 113° of kyphosis (T3-T11). Case 3 presented at 4 years of age with 103° of kyphosis (T1-T11). Cases 1 and 2 underwent T2-L2 posterior instrumented spinal fusion (PISF). Upon follow up, radiographs for Cases 1 and 2 revealed severe, symptomatic proximal junctional kyphosis (PJK) of 71° and 50°, respectively, requiring surgical revision proximally to the C4 level. Case 3 underwent placement of magnetically controlled growing rods given young age and growth potential. Surgical levels for Case 3 were extended from C4-pelvis in an attempt to prevent development of symptomatic PJK. Most recent radiographs for Case 3 taken 21 months postoperatively demonstrate a stable 50° of kyphosis. PJK above C4 was noted but is stable and asymptomatic.

Conclusion

T9M often presents with progressive hyperkyphosis. Despite instrumentation above the upper end vertebra (UEV), PJK may be a common complication in this small patient population. This novel report on spine deformity correction in the T9M population may provide preliminary guidance for the treatment of hyperkyphosis in patients with T9M and help surgeons avoid common pitfalls.

Level of evidence

IV.

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Not applicable for this manuscript.

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Funding

Funding for this project was provided by the Gillette Children’s Spine Fund.

Author information

Authors and Affiliations

  1. Research Department, Gillette Children’s, Saint Paul, MN, USA

    Candice S. Legister & Sara J. Morgan

  2. Department of Orthopedics- Spine, 200 University Avenue East, Gillette Children’s, MN, 55101, Saint Paul, USA

    Danielle C. Harding & Tenner J. Guillaume

  3. Department of Rehabilitation Medicine, University of Minnesota, MN, Minneapolis, USA

    Sara J. Morgan

  4. Department of Rehabilitation Medicine, University of Washington, Seattle, WA, USA

    Sara J. Morgan

Authors
  1. Candice S. Legister
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  2. Danielle C. Harding
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  3. Sara J. Morgan
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  4. Tenner J. Guillaume
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Contributions

Conception and design of work: TJG, DCH, CSL, SJM. Data collection: TJG, CSL. Methodology: TJG, DCH, CSL, SJM. Project administration: CSL. Supervision: TJG, SJM. Validation: TJG, SJM, DCH. Writing original draft: CSL. Critical review of manuscript: TJG, DCH, SJM. Approval of final version of manuscript: TJG, CSL, SJM, DH.

Corresponding author

Correspondence to Tenner J. Guillaume.

Ethics declarations

Conflict of interests

All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest or non-financial interest in the subject matter or materials discussed in this manuscript.

Ethics approval

Approval was obtained from the institutional review board of the University of Minnesota, IRB ID STUDY00011698.

Consent to participate

Written informed consent was not required by the IRB because all information was non-identifiable. Verbal consent was obtained from legal guardians for participation and use of patient data in this manuscript.

Consent to publish

Legal guardians have provided verbal consent to the submission of this case series to the journal and to publication of all de-identified patient data and radiographs.

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Legister, C.S., Harding, D.C., Morgan, S.J. et al. Pitfalls and management of corrective spinal surgery in trisomy 9 mosaicism: a report of three cases. Spine Deform 11, 759–764 (2023). https://doi.org/10.1007/s43390-022-00624-3

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  • DOI: https://doi.org/10.1007/s43390-022-00624-3

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