Atlantoaxial dislocation in a patient with Neurofibromatosis type 1: Case report and review

Background: Neurofibromatosis type 1 (NF1) or von Recklinghausen’s disease is a complex multi-system genetic disorder characterized by neurocutaneous manifestations, nervous system affection, and various skeletal dysplasia. Rarely, this disorder might be associated with atlantoaxial dislocation (AAD). Case Description: A 65-year-old male with a prior diagnosis of (NF1) was referred due to progressive spastic quadriparesis. Dynamic cervical spine radiographs and magnetic resonance showed reducible AAD with cervicomedullary cord compression/myelopathy. Triple construct C1–C2 screw–rod–hook fixation results in steady postoperative neurological recovery. Conclusion: Here, we reviewed the clinical presentation, diagnostic challenges, and surgical fusion for C1–C2 instability in a 65-year-old male with type 1 (NF1) and cervicomedullary cord compression.