CASE 18833 Published on 22.01.2025

A case of spondylocostal dysostosis

Section

Musculoskeletal system

Case Type

Clinical Case

Authors

Anvith M., Pradeep Kumar C. N., Megha J., Raghu K. H.

Patient

1 year, male

Categories
Area of Interest Anatomy, Extremities, Musculoskeletal joint, Musculoskeletal spine ; Imaging Technique CT
Clinical History

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.

Imaging Findings

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.

Discussion

Spondylocostal dysostosis (SCD), commonly referred to as JarchoLevin 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 JarchoLevin syndrome, and spondylothoracic dysostosis (STD), also known as LavyMoseley syndrome:

  • Spondylocostal dysostosis (SCD) is linked to mild to moderate respiratory insufficiency, occurs in various ethnic groups, and has been associated with genes like DLL3, which is related to the Notch pathway.
  • In contrast, spondylothoracic dysostosis (STD) is connected to more severe respiratory issues, is primarily found in Puerto Rican populations, and is thought to be associated with the MESP2 gene, which is also part of the Notch pathway [4].
Differential Diagnosis List
Spondylocostal dysostosis (Jarcho–Levin syndrome)
Spondylothoracic dysostosis (Lavy–Moseley syndrome)
Final Diagnosis
Spondylocostal dysostosis (Jarcho–Levin syndrome)
Case information
URL: https://www.eurorad.org/case/18833
DOI: 10.35100/eurorad/case.18833
ISSN: 1563-4086
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