Atlantoaxial rotatory subluxation in patients with Marfan syndrome. A report of three cases

STUDY DESIGN: This is a retrospective case series of three patients, ages 9 1/2, 13, and 20 years old, with Marfan syndrome treated for atlantoaxial rotatory subluxation. In the first two cases, acute torticollis was noted postoperatively, following pectus excavatum repair. The diagnosis was made in the third patient after she presented to the emergency room with a week-long history of unresolved neck pain following minor trauma. OBJECTIVE: To report and discuss the courses and clinical sequelae of atlantoaxial subluxation in patients with Marfan syndrome. SUMMARY OF BACKGROUND DATA: Radiographic analysis of patients with Marfan syndrome has shown that increased atlantoaxial translation, larger odontoid height, and basilar impression are more prevalent in this population compared to age-matched controls. Despite these findings, there are sparse data on injuries secondary to cervical spine instability or abnormalities in this population. To the authors' best knowledge, no report of atlantoaxial rotatory subluxation in patients with Marfan syndrome exists in the literature. METHODS: Case records of rotatory instability of the atlanto-axial level were reviewed and are presented in the following report. RESULTS: The first two patients described in this report were noted to have "cock robin" posturing of their necks following pectus excavatum repairs. The first patient's subluxation was partially reduced with halo traction, and he subsequently underwent posterior spinal fusion of C1-C2 with internal fixation. The patient was well aligned postoperatively, and had no neurologic deficits. The second patient's subluxation reduced after 20 days of halter and traction; he was immobilized in a collar following discharge and reduction was maintained. The third patient's subluxation failed to reduce with halo traction; further imaging studies revealed odontoid prominence in the foramen magnum. She underwent posterior spinal fusion, occiput to C3, with satisfactory result. CONCLUSIONS: The cervical bony and ligamentous abnormalities seen in patients with Marfan syndrome may slightly increase their risk for atlantoaxial rotatory instability. Special attention to intubation and positioning, both intraoperatively and postoperatively, may be necessary in patients with Marfan syndrome. Additionally, rotatory subluxation should be included in the differential diagnosis for Marfan patients with neck pain after injury.     

Atlantoaxial rotatory subluxation after surgical relocation of Sprengel deformity: a case report

We report a case of atlantoaxial rotatory subluxation developed after scapular relocation for Sprengel deformity in a 5-year-old girl. Scapular relocation descended the scapula by 60%, and achieved a normal shoulder joint motion. However, atlantoaxial rotatory subluxation developed, probably by pulling force of the tightened anterior fibers of upper trapezius muscle. Atlantoaxial joint was reduced easily under general anesthesia and muscle relaxant, along with surgical release of the tight band at the anterior part of trapezius muscle, which was maintained by halovest immobilization.     

Atlantoaxial rotatory subluxation in skeletally immature patients

Treatments of atlanto-axial rotatory subluxation in children are generally conservative. Previous reports have proposed that surgical treatment be reserved for fixed rotatory subluxation of more than 3 months duration, irreducible deformity or cases of recurrence. Six skeletally immature patients with Fielding type III atlanto-axial rotatory subluxation were treated conservatively with or without subsequent atlanto-axial arthrodesis. The follow-up period for all the cases exceeded 18 months. Results and outcomes were analysed with an emphasis on the delay until diagnosis, causes of delays in diagnosis and factors influencing the necessity of surgical intervention. Neither mortality nor major morbidity was noted in any cases in this study. In our experience, type III fixed rotatory subluxation of 6 weeks duration will potentially recur. We recommend early surgery for type III fixed rotatory subluxation of more than than 3 months' duration, with atlanto-axial arthrodesis being a safe and effective procedure in children.     

Atlantoaxial rotatory fixation. Radiographic study of its mechanism

The mechanism of atlantoaxial rotatory fixation was investigated by means of CT scanning. During the acute stage, there was a common rotatory displacement of the occiput and atlas complex in relation to the axis. As symptom subsided spontaneously or with treatment, the displacement was reduced and the occiput and atlas complex was in normal alignment with the axis. In a few cases where survey x-ray presented persistence of a typical displacement between C1/2, there was a persistent rotatory displacement of the atlas within the occiput-atlas-axis (C0-C1-C2) complex. Here, the occiput faced in nearly the same direction as the axis and the rest of the cervical spine. This meant an interlocking of the rotated atlas between C0 and C2. Either one of the lateral mass articulation of the rotated atlas was anteriorly dislocated and interlocked. Compensatory derotation of the occiput and a hypermobility of the C0/1 articulation, limited to younger children, presumably produced such a rotatory displacement of the atlas within the C0-C1-C2 complex. Restriction of rotation and a residual postural deformity resulted from unilateral dislocation of the lateral mass articulation between C1/2 and residual rotatory displacement between C0/2, respectively. Difficulty in reducing such a postural deformity can be attributed to the fact that any manipulative force often fails to unlock the atlas within C0-C1-C2 complex because of an excessive mobility between the C0/C1, and a ligamentocapsular contracture can be established in the lateral mass articulation of the interlocked atlas in an ignored case.     

Atlantoaxial rotatory fixation owing to neck burn

The purpose of this paper is to present a case of severe atlantoaxial rotatory fixation owing to a previously unreported etiology, and to discuss its pathogenesis and management. Conservative measures were unable to prevent progression, thus requiring surgical intervention.     

Atlantoaxial synovial cyst. A case report

The case of a 62-year-old patient with an atlanto-axial synovial cyst is presented. The narrowing of the spinal canal was associated with anterior medullar compression and neurological deficit. A transoral approach with odontoid resection was performed. The diagnostic of synovial cyst was histologically confirmed. Secondary atlanto-axial instability required posterior fixation completed by C1-C2 transarticular screw fixation. The follow-up showed an improvement of the neurological deficit. Similar cases reported in the literature are reviewed and discussed.     

Sequentially occurred bilateral atlantoaxial rotatory subluxation following craniotomy: a case report

Atlanto-axial rotatory subluxation (AARS) often presents in childhood as a stiff, painful neck with associated typical cock-robin type of torticollis. It can occur spontaneously or following minor trauma or an inflammatory process in the cervical tissues or following otorhinolaryngeal surgery. We report a case of bilateral AARS which occurred sequentially following craniotomy. To the best of our knowledge, no case of AARS after craniotomy has been reported previously and only one case in which bilateral AARS was observed has been reported to date. Failure to recognize the condition may result in a fixed rotatory subluxation, which can be difficult to treat. Awareness of this condition by surgeons involved in brain surgery should lead to its early recognition and treatment, preventing a fixed deformity occurring. We discuss the clinical presentation and management of AARS. The literature on this subject is briefly reviewed.