Spinal deformity in neurofibromatosis type-1: diagnosis and treatment.

Abstract

Spinal deformity is the commonest orthopaedic manifestation in neurofibromatosis type-1 and is categorized into dystrophic and non-dystrophic types. Management should be based on a meticulous assessment of the spine with plain radiography and magnetic resonance imaging (MRI) to rule out the presence of dysplastic features that will determine prognosis and surgical planning. MRI of the whole spine should also be routinely obtained to reveal undetected intraspinal lesions that could threaten scheduled surgical interventions. Non-dystrophic curvatures can be treated with similar decision-making criteria to those applied in the management of idiopathic scoliosis. However, close observation is necessary due to the possibility of modulation with further growth and due to the increased reported risk of pseudarthrosis after spinal fusion. The relentless progressive nature of dystrophic curves necessitates aggressive operative treatment, which often has a significant toll on the quality of life of affected patients through their early childhood. Bracing of dystrophic curves has been unsuccessful. Combined anterior/posterior spinal arthrodesis including the entire structural component of the deformity is indicated in most cases, particularly in the presence of associated sagittal imbalance. This should be performed using abundant autologous bone graft and segmental posterior instrumentation to minimize the risk of non-union and recurrence of the deformity.