Posterior spinal fusion for severe kyphosis in a child with Gaucher disease: a case report and review of the literature

Abstract Background The skeleton involvement is one of the most significant aspects of Gaucher disease (GD).However, the treatment for spinal involvement in GD among patients undergoing enzyme replacement therapy (ERT) is poorly characterized. We present a case of progressive kyphotic spinal deformity in a young child caused by vertebral involvement, which was managed by posterior spinal fusion without anterior spinal release under ERT. Case presentation A 10-year-old boy presented progression kyphosis ( thoracic kyphotic angle of 113°) associated with type IIIb GD had undergoneposterior spinal fusion with segmental pedicle screw fixation (from T6-L3) and Ponte osteotomy. The patient went back to school without further brace protection. Proximal junctional kyphosis (PJK) was observed at 4 months postoperatively. Revision surgery was performed to prevent the neurological impairment. Additional posterior spinal fusion from T2–T6 and decompressive laminectomy was performed during the revision surgery. 2-year of follow-up showed no recurrence of PJK and solid fusion was achieved in the patient under ERT and brace protection. Conclusions Posterior spinal fusion without anterior spinal release is a good treatment option for severe spinal deformity in patients with GD. However, the fusion level and reinforced fixation require careful consideration, revision surgeryand brace protection is needed as long as PJK was observed.