Abstract

Neurofibromatosis is an autosomal dominant genetic disease, characterized by café au lait spots, neurofibromas and several bony anomalies. Deformities of the spine are the most frequent alterations. Involvement of the cervical spine has been studied less frequently. The case of a 16-year-old male patient affected by neurofibromatosis, with cervical pain without neurological symptoms is presented. X-rays, CT-scan and MRI demonstrated the presence of cervical kyphosis, occipitoaxial instability and atlantoaxial instability with subluxation. Posterior occipito-C2 fusion was performed with prior placement of a halo-vest. The outcome at four years was good with solid occipito axial fusion, moderate loss of cervical spine flexion and moderate-to-severe limitation of cervical spine rotation. The incidence and variety of alterations of the cervical spine in patients affected with neurofibromatosis is discussed, as well as the results obtained by the treatment.