Surgical management of progressive spinal deformities in FKBP14-associated Ehlers-Danlos syndrome: a case report and literature review
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.
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- The Matrisome: In Silico Definition and In Vivo Characterization by Proteomics of Normal and Tumor Extracellular Matrices
- The Escherichia coli MG1655 in silico metabolic genotype: Its definition, characteristics, and capabilities
- In silico pharmacology for drug discovery: methods for virtual ligand screening and profiling
- In silico prediction of splice-altering single nucleotide variants in the human genome
- In silico clinical trials: how computer simulation will transform the biomedical industry
- In silico optimization of a guava antimicrobial peptide enables combinatorial exploration for peptide design
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.