CASE 11151 Published on 29.10.2013

Congenital vertebral segmentation abonormality in absence of other malformations


Musculoskeletal system

Case Type

Anatomy and Functional Imaging


Guglielmo Manenti, Armando Fusco, Mario Raguso, Alessio Bindi, Marco Morini,Giovanni Simonetti

University of Rome Tor Vergata,
Department of Diagnostic and Interventional Radiology,
Molecular Imaging and Radiotherapy;
Viale Oxford 81, Rome, Italy;

31 years, female

Area of Interest Spine, Musculoskeletal spine ; Imaging Technique MR, Experimental, Digital radiography
Clinical History
We present the case of a 31-year-old woman with chronic low back pain refractory to conservative therapies (analgesics and physical approaches) during the last six months. A pelvic misalignment and clinical signs of vertebral rotation were detected.
Imaging Findings
X-ray examination showed the presence of dorso-lumbar Congenital Vertebral Malformations (CVM) (Fig. 1).
A T11-T12 disk bulging and vertebral segmentation and fusion abnormalities were well described with Magnetic Resonance Imaging (Fig. 2a). A L3-L4 vertebral block (Fig. 2a) and a L1 sagittal cleft ("butterfly vertebra") (Fig. 2b) were observed.
An anomalous origin of the 12th left rib from T11 was detected. In Fig. 3a a coronal image magnification shows the irregular morphology of T11 vertebra characterized by an antero-inferior wedge-shaped portion. An X-ray image magnification shows the anomalous origin of the left 12th rib from the T11 vertebra (Fig. 3b).
An abdominal ultrasound study excluded other visceral abnormalities.
Vertebral segmentation refers to the embryonic developmental process, which will lead to the formation of the spine [1].
Different CVM classifications have been proposed, but no one has been able to include all phenotypes encountered in clinical practice (Table 1) [2, 3, 4, 5, 6, 7].
Genetic familiar transmission of diagnosed CVM has been documented in approximately 3% [8]. Chromosome abnormality or syndromes are estimated to be present in 30-60% of vertebral malformations [9].
In recent decades a series of gene alterations have been identified as responsible of mistakes in vertebral segmentation (Table 2) [10, 11, 12, 13, 14, 15].
In our case, after an accurate research in the literature, no similar phenotype has been described yet.
In fact in the same patient we described a segmentation defect (L1 "butterfly vertebra"), a fusion defect (L3-L4 vertebral block) and an anomalous origin of the 12th left rib from the T11 vertebra [16]. The last finding could be due to a fusion alteration of a T12 portion. The vertebral part, where the 12th left rib arises, is not completely fused with T11 vertebral body; furthermore we can't observe any left rib arising from the lower vertebral body. These observations lead us to think the 12th left rib arises from a vertebral particle which didn't fuse with T12 and migrated to the cranial vertebra.
CVM can be single or multiple and sometimes associated with known syndromes [16].
Isolated CVM may be asymptomatic or clinically appear with unexplained back pain or spine developmental abnormalities, after the skeletal maturation is completed [4, 6, 7, 8].
Sometimes CVM may cause a reduction of daily quality of life [17, 18, 19].
Therefore the early diagnosis is important with the aim to plan correct therapeutic strategies.
Imaging has a pivotal role. X-ray is the first imaging technique used to confirm the clinical diagnosis and to evaluate the seriousness of the pathologic condition [20].
Second level imaging is mandatory to well study the spine and organ systems.
Computed Tomography is recommended if CS is due to osseous abnormalities and for surgical planning [21]. MRI does not use ionizing radiations and is performed with increasing frequency because of the young age of the patients. MR multi-parametric study also allows detecting nervous system involvement [22].
Differential Diagnosis List
Low back pain for congenital scoliosis caused by vertebral malformations.
Degenerative disc disease
Facet joint arthropathy
Rheumatologic or degenerative disorders
Final Diagnosis
Low back pain for congenital scoliosis caused by vertebral malformations.
Case information
DOI: 10.1594/EURORAD/CASE.11151
ISSN: 1563-4086