Neurofibromatosis-Associated Spinal Deformity

Neurofibromatosis type 1 (NF1) is an autosomal-dominant neurocutaneous disorder caused by mutations in the tumor suppressor gene neurofibromin 1, which is strongly associated with skeletal manifestations, most commonly involving the spine. NF1-associated spinal deformity can be nondystrophic or dystrophic, the latter of which is rapidly progressive and characterized by distinct radiographic features, including rib penciling, vertebral scalloping, and widened interpedicular distance. Multiplanar thoracolumbar and cervical deformity, pedicle dysplasia, dural ectasia, spinal tumors, and rib head dislocation frequently co-occur, thereby complicating management. Appropriate screening and surveillance of all patients with NF1 are critical for early detection and intervention. Bracing can be effective for mild to moderate nondystrophic curves; early and aggressive surgical intervention is an essential treatment principle of dystrophic deformity but instrumented fusion is commonly needed for syndromic deformity, with recent shifts in preference toward posterior-only approaches due to the superior biomechanics of pedicle screw constructs and greater morbidity of combined anterior-posterior procedures. For early-onset deformity, there remains controversy regarding where early fusion or growth-friendly techniques are preferred. As expected, the complication rate is high, although permanent neurological deficits only occur in approximately 1% of patients.