STUDY DESIGN. A case report. OBJECTIVE. To raise awareness of the development of atlantoaxial rotatory fixation (AARF) in the setting of congenital vertebral anomalies/malformations. SUMMARY OF BACKGROUND DATA. Klippel-Feil Syndrome (KFS) is a complex, heterogeneous condition noted as congenital fusion of 2 or more cervical vertebrae with or without spinal or extraspinal manifestations. Although believed to be a rare occurrence in the population, KFS may be underreported. Proper diagnosis of KFS and other congenital conditions affecting the spine is imperative to devise proper management protocols and avoid potential complications resulting from the altered biomechanics associated with such conditions and their abnormal vertebral morphology. Craniovertebral dislocation and AARF may cause severe cervicomedullary and spinal cord compression and could thereby be potentially fatal, especially in patients with KFS who present with congenitally-associated comorbidities. METHODS. A 13-year-old boy with Chiari type I malformation, craniofacial abnormalities, and other irregularities underwent thoracolumbar spine surgery for his scoliosis curve correction at another institution, which immediately following surgery he became a quadriparetic. The initial preoperative assessment of his cervical spine was limited and the associated KFS was initially undiagnosed. At 14 years of age, he presented to our clinic with an ASIA-C spinal cord injury. Plain radiographs, normal and 3-dimensional reformatted computed tomographs (CT), and magnetic resonance imaging (MRI) noted assimilation of the patient's occiput to the atlas (occipitalization) with congenital fusion of C2-C3, indicative of KFS, and the presence of anterior craniovertebral dislocation with a Fielding and Hawkins type II AARF. Closed reduction of the craniovertebral dislocation was noted, but his atlantoaxial rotatory subluxation was nonresponsive and fixed (AARF). As such, at the age of 14, the patient underwent posterior instrumentation and fusion from the occiput to C4 to maintain reduction of thecraniovertebral dislocation and reduce his AARF. RESULTS. At 9 months postoperative follow-up of his craniovertebral surgery, the instrumentation remained intact, reduction of the atlantoaxial rotatory subluxation was maintained, and posterior bone fusion was noted. Neurologically, he remained an ASIA-C without any substantial return of function. CONCLUSION. This report raises awareness for the need of a thorough evaluation of the cervical spine to determine patients at high risk for craniovertebral dislocation and atlantoaxial rotatory subluxation, primarily in the context of KFS or other congenital conditions. Three-dimensional CT and MR imaging are ideal radiographic methods to determine the presence and extent of craniovertebral dislocation, AARF, and of abnormal vertebral anatomy/malformations. In addition, the authors propose a modification to the Fielding and Hawkins classification of AARF to include variants and subtypes that account for abnormal anatomy and congenital anomalies/malformations.

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Spine (Philadelphia, 1976)
Erasmus MC: University Medical Center Rotterdam

Samartzis, D., Shen, F., Herman, J., & Mardjetko, S. (2010). Atlantoaxial rotatory fixation in the setting of associated congenital malformations: A modified classification system. Spine (Philadelphia, 1976), 35(4), 119–127. doi:10.1097/BRS.0b013e3181c9f957