Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients

Abstract.

Background: Vertebral anomalies may help differentiate Alagille syndrome from other causes of chronic cholestasis. We suspect significant under-reporting of vertebral anomalies in children with Alagille syndrome. Objective: To compare the vertebral anomalies in Alagille syndrome with those in patients with chronic cholestasis due to other causes. The accuracy of original radiographic reporting was evaluated. Materials and methods: Spinal radiographs of 50 patients with Alagille syndrome and 31 non-Alagille syndrome cholestatic patients were evaluated retrospectively by four trained radiologists. The number, site and type of vertebral anomaly were noted. The consensus evaluation was then compared to the original report. Results: Vertebral anomalies were found in 66% of patients with Alagille syndrome and 9.7% of cholestatic control subjects (P<0.0005). In the patients with Alagille syndrome, incomplete fusion of the anterior arch, most frequently at the D6–9 level, accounted for 123 of 126 anomalies. Multiple vertebral anomalies occurred in 48% of patients with Alagille syndrome (mean 2.5 anomalies). Vertebral anomalies were misreported in 54% of cases of Alagille syndrome. Conclusions: Vertebral anomalies are significantly more common in Alagille syndrome than in chronic cholestasis of other causes and are frequently overlooked. Reporting should be undertaken by a radiologist familiar with the appearance and location of these vertebral anomalies.