'Clinical triad' findings in pediatric Klippel-Feil patients

published_or_final_versio

Superior odontoid migration in the Klippel–Feil patient

Klippel–Feil syndrome (KFS) is an uncommon condition noted primarily as congenital fusion of two or more cervical vertebrae. Superior odontoid migration (SOM) has been noted in various skeletal deformities and entails an upward/vertical migration of the odontoid process into the foramen magnum with depression of the cranium. Excessive SOM could potentially threaten neurologic integrity. Risk factors associated with the amount of SOM in the KFS patient are based on conjecture and have not been addressed in the literature. Therefore, this study evaluated the presence and extent of SOM and the various risk factors and clinical manifestations associated therein in patients with KFS. Twenty-seven KFS patients with no prior history of surgical intervention of the cervical spine were included for a prospective radiographic and retrospective clinical review. Radiographically, McGregor’s line was utilized to evaluate the degree of SOM. Anterior and posterior atlantodens intervals (AADI/PADI), number of fused segments (C1–T1), presence of occipitalization, classification-type, and lateral and coronal cervical alignments were also evaluated. Clinically, patient demographics and presence of cervical symptoms were assessed. Radiographic and clinical evaluations were conducted by two independent blinded observers. There were 8 males and 19 females with a mean age of 13.5 years at the time of radiographic and clinical assessment. An overall mean SOM of 5.0 mm (range = −1.0 to 19.0 mm) was noted. C2–C3 (74.1%) was the most commonly fused segment. A statistically significant difference was not found between the amount of SOM to age, sex-type, classification-type, AADI, PADI, and lateral cervical alignment (P > 0.05). A statistically significant greater amount of SOM was found as the number of fused segments increased (r = 0.589; P = 0.001) and if such levels included occipitalization (r = 0.616; P = 0.001). A statistically significant greater amount of SOM was also found with an increase in coronal cervical alignment (r = 0.413; P = 0.036). Linear regression modeling further supported these findings as the strongest predictive variables contributing to an increase in SOM. A 7.20 crude relative risk (RR) ratio [95% confidence interval (CI) = 1.05–49.18; risk differences (RD) = 0.52] was noted in contributing to a SOM greater than 4.5 mm if four or more segments were fused. Adjusting for coronal cervical alignment greater than 10°, five or more fused segments were found to significantly increase the RR of a SOM greater than 4.5 mm (RR = 4.54; 95% CI = 1.07–19.50; RD = 0.48). The RR of a SOM greater than 4.5 mm was more pronounced in females (RR = 1.68; 95% CI = 0.45–6.25; RD = 0.17) than in males. Eight patients (29.6%) were symptomatic, of which symptoms in two of these patients stemmed from a traumatic event. However, a statistically significant difference was not found between the presence of symptoms to the amount of SOM and other exploratory variables (P > 0.05). A mean SOM of 5.0 mm was found in our series of KFS patients. In such patients, increases in the number of congenitally fused segments and in the degree of coronal cervical alignment were strongly associated risk factors contributing to an increase in SOM. Patients with four or greater congenitally fused segments had an approximately sevenfold increase in the RR in developing SOM greater than 4.5 mm. A higher RR of SOM more than 4.5 mm may be associated with sex-type. However, 4.5 mm or greater SOM is not synonymous with symptoms in this series. Furthermore, the presence of symptoms was not statistically correlated with the amount of SOM. The treating physician should be cognizant of such potential risk factors, which could also help to indicate the need for further advanced imaging studies in such patients. This study suggests that as motion segments diminish and coronal cervical alignment is altered, the odontoid orientation is located more superiorly, which may increase the risk of neurologic sequelae