Surgical Management of Progressive Scoliosis in Crisponi Syndrome: Multidisciplinary Perioperative Strategy and Technical Considerations.

INTRODUCTION

Crisponi syndrome is a rare autosomal recessive disorder caused by pathogenic variants in the CRLF1 gene and characterized by neonatal autonomic instability, feeding difficulties, recurrent hyperthermia, and persistent thermoregulatory dysfunction. Although survival has improved with advances in supportive care, musculoskeletal manifestations, particularly progressive spinal deformities, remain insufficiently described.

CASE REPORT: We report a 16-year-old male with genetically confirmed Crisponi syndrome who developed severe progressive scoliosis. Recurrent febrile episodes limited brace compliance, and the deformity progressed to a pre-operative Cobb angle of 90.5°. Pre-operative imaging demonstrated a structurally fixed, single C-shaped curve without segmentation anomalies. Following multidisciplinary evaluation addressing autonomic and anesthetic risks, posterior spinal fusion and instrumentation from T2 to L2 were performed using pedicle screws, hooks, sublaminar bands, and multilevel chevron osteotomies. Perioperative management emphasized temperature regulation and preparation for hyperthermic crises.

CONCLUSION

The post-operative course was uneventful, with preserved neurologic function and stable radiographic correction at 1-month follow-up. This case demonstrates that posterior spinal fusion can be safely undertaken in patients with Crisponi syndrome when meticulous multidisciplinary planning is implemented.