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

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 pa...

Full description

Saved in:
Bibliographic Details
Published in:Child's nervous system 2012-12, Vol.28 (12), p.2163-2168
Main Authors: Giussani, Carlo, Selicorni, Angelo, Fossati, Chiara, Ingelmo, Pablo, Canonico, Francesco, Landi, Andrea, Trezza, Andrea, Riva, Matteo, Sganzerla, Erik P.
Format: Article
Language:English
Subjects:
Arnold-Chiari Malformation - pathology
Case Report
Cervical Vertebrae - abnormalities
Child
Cyclic AMP Response Element-Binding Protein - genetics
Female
Humans
Image Processing, Computer-Assisted
Intellectual Disability - etiology
Magnetic Resonance Imaging
Male
Medicine
Medicine & Public Health
Mutation - genetics
Mutation - physiology
Neurologic Examination
Neurosciences
Neurosurgery
Rubinstein-Taybi Syndrome - pathology
Rubinstein-Taybi Syndrome - psychology
Scoliosis - pathology
Spinal Cord Compression - complications
Spinal Cord Compression - pathology
Spine - abnormalities
Spine - pathology
Syringomyelia - complications
Syringomyelia - pathology
Tomography, X-Ray Computed
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0256-7040
1433-0350
DOI:10.1007/s00381-012-1893-7