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Purpose <p>This report aims to present a comprehensive case of progressive spinal instability in kyphoscoliotic Ehlers-Danlos syndrome (EDS) and review the surgical management literature to provide insights into treatment strategies for this challenging pediatric population.</p> Case presentation <p>A female patient with genetically confirmed FKBP14-associated EDS (homozygous c.362dupG p.E122RfsX7 mutation) was followed from infancy through age 10 at a tertiary pediatric center. At 15&#xa0;months, rapidly progressive cervical kyphosis with myelopathy necessitated urgent C3 corpectomy with C2–C4 fusion. Progressive early-onset scoliosis required magnetically controlled growing rod placement at age 5. Development of basilar invagination led to occipital-cervical fusion at age 7, followed by growing rod exchange at age 8. Modified fixation techniques accommodating tissue fragility were employed throughout. Nine-year follow-up demonstrated successful deformity control with solid arthrodesis at multiple levels, though ongoing challenges include hardware adaptation and the need for mobility assistance.</p> Conclusion <p>This case demonstrates that while EDS presents progressive challenges requiring reactive surgical interventions, early recognition and timely response to evolving deformities can achieve favorable long-term outcomes. Our experience highlights the importance of regular surveillance to detect new pathology before irreversible complications occur.</p>

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Surgical management of progressive spinal deformities in FKBP14-associated Ehlers-Danlos syndrome: a case report and literature review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月9日

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  • Bluyé DeMessie,
  • Jason Yu,
  • Shanzeh Sayied,
  • Genesis Liriano,
  • Jacob F. Schulz,
  • Andrew J. Kobets

摘要

Purpose

This report aims to present a comprehensive case of progressive spinal instability in kyphoscoliotic Ehlers-Danlos syndrome (EDS) and review the surgical management literature to provide insights into treatment strategies for this challenging pediatric population.

Case presentation

A female patient with genetically confirmed FKBP14-associated EDS (homozygous c.362dupG p.E122RfsX7 mutation) was followed from infancy through age 10 at a tertiary pediatric center. At 15 months, rapidly progressive cervical kyphosis with myelopathy necessitated urgent C3 corpectomy with C2–C4 fusion. Progressive early-onset scoliosis required magnetically controlled growing rod placement at age 5. Development of basilar invagination led to occipital-cervical fusion at age 7, followed by growing rod exchange at age 8. Modified fixation techniques accommodating tissue fragility were employed throughout. Nine-year follow-up demonstrated successful deformity control with solid arthrodesis at multiple levels, though ongoing challenges include hardware adaptation and the need for mobility assistance.

Conclusion

This case demonstrates that while EDS presents progressive challenges requiring reactive surgical interventions, early recognition and timely response to evolving deformities can achieve favorable long-term outcomes. Our experience highlights the importance of regular surveillance to detect new pathology before irreversible complications occur.