The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome

摘要

Object Rubinstein-Taybi syndrome (RSTS) is a rare condition with characteristic genetic and clinical features. The presence of variable vertebral and neural axis abnormalities has been reported in the literature. We describe the possible association of multiple different spinal anomalies in these patients. Results The radiological exams of two RSTS patients (a female and male of 11 and 13 years) have been reviewed. Both patients presented the simultaneous association of craniovertebral junction bony abnormalities (occipito-C1 condyle subluxation and posterior C2-C3 arches fusion), Chiari I malformation, spinal cord syrinx, low-lying conus medullaris, and scoliosis. Conclusion An association of different spinal cord anomalies is possible in RSTS patients and has to be investigated with a comprehensive neuroimaging study in order to address the proper treatment and prevent the development of neurologic deficits.