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


CONCLUSIONS
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.
Clinica Neurochirurgica, Ospedale San Gerardo, Università degli Studi Milano-Bicocca, via Pergolesi 33, Monza, Italy. carlo.giussani@unimib.it
Carlo
C
Giussani
Angelo
A
Selicorni
Chiara
C
Fossati
Pablo
P
Ingelmo
Francesco
F
Canonico
Andrea
A
Landi
Andrea
A
Trezza
Matteo
M
Riva
Erik P
EP
Sganzerla
D001139:Arnold-Chiari Malformation / Q000473:pathology; D002574:Cervical Vertebrae / Q000002:abnormalities*; D002648:Child; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008607:Intellectual Disability / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics / Q000502:physiology; D009460:Neurologic Examination; D012415:Rubinstein-Taybi Syndrome / Q000473:pathology* / Q000523:psychology; D012600:Scoliosis / Q000473:pathology*; D013117:Spinal Cord Compression / Q000150:complications / Q000473:pathology; D013131:Spine / Q000002:abnormalities / Q000473:pathology; D013595:Syringomyelia / Q000150:complications / Q000473:pathology; D014057:Tomography, X-Ray Computed
D017362:Cyclic AMP Response Element-Binding Protein