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Association of spinal cord abnormalities with vertebral anomalies: an embryological perspective

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Abstract

Purpose

To analyze the relationship between spinal cord and vertebral abnormalities from the point of view of embryology.

Methods

We analyzed the clinical and radiological data of 260 children with different types of spinal cord malformations in combination with vertebral abnormalities.

Results

Among 260 individuals, approximately 109 presented with open neural tube defects (ONTDs), 83 with split cord malformations (SCMs), and 83 with different types of spinal lipomas. Pathological spina bifida emerged as the most frequent vertebral anomaly, affecting 232 patients, with a higher prevalence in ONTD. Vertebral segmentation disorders, including unsegmented bars, butterfly vertebrae, and hemivertebrae, were present in 124 cases, with a higher prevalence in SCM. The third most common spinal anomaly group consisted of various forms of sacral agenesis (58 cases), notably associated with blunt conus medullaris, spinal lipomas, and sacral myelomeningocele. Segmental aplasia of the spinal cord had a typical association with segmental spinal absence (N = 17).

Conclusion

The association between SCM and neuroenteric cyst/canal and vertebral segmentation disorders is strong. High ONTDs often coincide with pathological spina bifida posterior. Type 1 spinal lipomas and focal spinal nondisjunction also correlate with pathologic spina bifida. Segmental spinal absence or dysgenesis involves localized spinal and spinal cord aplasia, sometimes with secondary filar lipoma.

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Data availability

In compliance with privacy regulations and ethical standards, access to the patient database used in this study cannot be granted. The database contains personally identifiable information, such as names and surnames, making it unsuitable for sharing.

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Authors and Affiliations

Authors

Contributions

O.M.S. and D.M.S. conceived and designed the study. O.M.S., D.M.S., and K.A.D. collected and analyzed the clinical and radiological data. O.M.S., D.M.S., and K.A.D. interpreted the results and contributed to the drafting of the manuscript. O.M.S. and D.M.S. contributed equally to writing the main manuscript text. All authors critically reviewed and approved the final version of the manuscript.

Corresponding author

Correspondence to Olga M. Sergeenko.

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Ethical approval

All procedures performed in studies involving human participants were approved by the Institutional Review Board and were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Consent to participate

This retrospective study solely involved the analysis of clinical images and did not influence the standard algorithm for examination and treatment. As such, specific informed consent for participation in the study was not obtained. Instead, the standard consent for examination and treatment was administered during the course of diagnosis and treatment. In accordance with ethical guidelines, it is important to note that this study was exempt from obtaining distinct informed consent for retrospective analysis. The study adheres to applicable regulations, and the exemption has been approved by Ilizarov Center IRB.

Conflict of interest

The authors declare no competing interests.

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Sergeenko, O.M., Savin, D.M. & Diachkov, K.A. Association of spinal cord abnormalities with vertebral anomalies: an embryological perspective. Childs Nerv Syst 40, 1415–1425 (2024). https://doi.org/10.1007/s00381-024-06336-5

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