Childs Nerv Syst. 2025 Dec 9;41(1):412. doi: 10.1007/s00381-025-07063-1.
ABSTRACT
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.
PMID:41366145 | DOI:10.1007/s00381-025-07063-1