X-ray image

Musculoskeletal system
Case TypeClinical Case
Authors
Anvith M., Pradeep Kumar C. N., Megha J., Raghu K. H.
Patient1 year, male
A one-year-old full-term-born male child, born to non-consanguineous parents, presents with complaints of thoracic deformity. No history of previous surgeries.
The AP chest radiograph (Figure 1) demonstrated the absence of ribs in the right mid-zone, with fusion of multiple adjacent ribs. Fusion of multiple ribs was also noted on the left side. The image showed evidence of dextroscoliosis.
Further evaluation with computed tomography revealed bifid ribs with segmental fusion and widening at multiple levels bilaterally (Videos and Figures 2a, 2b, 2c, 3, 4, and 5). Fusion of posterior vertebral elements was observed at multiple levels, and dextroscoliosis was noted involving the thoracic spine. Posterior vertebral arch defects were identified involving the L5 vertebra and all sacral vertebrae (Figures 2b and 2c).
Mild volume loss of the right hemithorax was noted. The pulmonary parenchyma, bronchial, and vascular markings appeared normal bilaterally.
Spondylocostal dysostosis (SCD), commonly referred to as Jarcho–Levin syndrome, is a rare genetic growth disorder that was first identified by Saul Jarcho and Paul Levin in 1938 [1].
Patients typically exhibit multiple vertebral anomalies across different levels of the spine, such as hemivertebrae, butterfly vertebrae, and fused hypoplastic vertebrae [2]. A common characteristic is the presence of congenital rib malformations, which may be fused, absent, or excessively developed.
Patients may show defects in the neural arches of the vertebrae, potentially resulting in conditions like spina bifida or other neural tube defects. These abnormalities can lead to neurological deficits and complicate the overall clinical presentation.
As a result of these abnormalities, affected individuals have a higher risk of developing thoracic insufficiency syndrome, which can ultimately result in early neonatal death. However, despite these severe complications, around 50% of cases may survive into adulthood [3].
For over fifty years, there has been uncertainty about the differences between two phenotypically similar syndromes that lead to thoracic insufficiency, i.e., spondylocostal dysostosis (SCD), also referred to as Jarcho–Levin syndrome, and spondylothoracic dysostosis (STD), also known as Lavy–Moseley syndrome:
[1] Jarcho S, Levin PM (1938) Hereditary malformations of the vertebral bodies. Bull Johns Hopkins Hosp 62:216–26
[2] Vázquez-López ME, López-Conde MI, Somoza-Rubio C, Pérez-Pacín R, Morales-Redondo R, González-Gay MA (2005) Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review. Joint Bone Spine 72(3):275-7. doi: 10.1016/j.jbspin.2004.06.007. (PMID: 15851003)
[3] Campbell RM Jr (2009) Spine deformities in rare congenital syndromes: clinical issues. Spine (Phila Pa 1976) 34(17):1815-27. doi: 10.1097/BRS.0b013e3181ab64e9. (PMID: 19644333)
[4] Berdon WE, Lampl BS, Cornier AS, Ramirez N, Turnpenny PD, Vitale MG, Seimon LP, Cowles RA (2011) Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). Pediatr Radiol 41(3):384-8. doi: 10.1007/s00247-010-1928-8. (PMID: 21174082)
URL: | https://www.eurorad.org/case/18833 |
DOI: | 10.35100/eurorad/case.18833 |
ISSN: | 1563-4086 |
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