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New insights in craniovertebral junction MR changes leading to stenosis in children with achondroplasia

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Abstract

Purpose

To characterize natural history and early changes of craniovertebral junction stenosis in achondroplasia correlating with clinical and radiological outcome.

Methods

Retrospective measures on craniovertebral junction were performed blindly, on sagittal T2-weighted images, in 21 patients with achondroplasia referred from 2008 to 2020. Clinical and polysomnography data were retrospectively collected. Each patient was paired for age and gender with four controls. Wilcoxon means comparison or Student’s t-tests were applied.

Results

Twenty-one patients (11 females, from 0.1 to 39 years of age) were analyzed and paired with 84 controls. A craniovertebral junction stenosis was found in 11/21 patients (52.4%), all before the age of 2 years. Despite a significant reduction of the foramen magnum diameter (mean ± SD: patients 13.6 ± 6.2 mm, controls 28.5 ± 4.7 mm, p < .001), craniovertebral junction stenosis resulted from the narrowing of C2 dens-opisthion antero-posterior diameter (8.7 ± 3.9 mm vs 24.6 ± 5.1 mm, p < .001). Other significant changes were opisthion anterior placement (−0.4 ± 2.8 mm vs 9.4 ± 2.3 mm, p < .001), posterior tilt of C2 (46.2 ± 13.7° vs 31.6 ± 7.9°, p < .001) and of C1 (15.1 ± 4.3° vs 11.9 ± 5.0°, p = 0.01), and dens thickening (9.4 ± 2.2 mm vs 8.5 ± 2.1 mm, p = 0.03), allowing to define three distinguishable early craniovertebral junction patterns in achondroplasia. All children with C2-opisthion antero-posterior diameter of more than 6 mm had a better clinical and radiological outcome.

Conclusion

Craniovertebral junction in achondroplasia results from narrowing between C2 dens and opisthion related to anterior placement of opisthion, thickening of C2 dens, and posterior tilt of C1-C2. A threshold of 6 mm for dens-opisthion sagittal diameter seems to correlate with clinical and radiological outcome.

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Abbreviations

ACH:

Achondroplasia

cAHI:

Central apnea–hypopnea index

CVJ:

Craniovertebral junction

FM:

Foramen magnum

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Acknowledgements

The authors acknowledge the patients and their family for their contribution and their trust and I. Moulay-Lakhdar (clinical researcher, Department of Genetics, Hospices Civils de Lyon) for the management of consents.

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Author notes

  1. Massimiliano Rossi and Federico Di Rocco contributed equally to this work.

Authors and Affiliations

  1. Department of Pediatric Radiology, Groupement Hospitalier Est, Hospices Civils de LyonBron, France

    Sara Cabet & Laurent Guibaud

  2. Department of Genetics, National Referral Center for Developmental Abnormalities and Competence Center for Skeletal Dysplasia, UMR5292, Lyon Neuroscience Research Center, INSERM U1028, CNRS, GENDEV Team, Claude Bernard Lyon 1 University, Hospices Civils de LyonBron, France

    Sara Cabet & Massimiliano Rossi

  3. Claude Bernard Lyon 1 University, Lyon, France

    Sara Cabet, Laurent Guibaud & Federico Di Rocco

  4. Department of Neurosurgery, National Referral Center for Craniosynostosis and Craniofacial Malformations, Hospices Civils de Lyon, Groupement Hospitalier Est, Bron, France

    Alexandru Szathmari, Carmine Mottolese & Federico Di Rocco

  5. Pediatric Sleep Unit, Hospices Civils de Lyon, Groupement Hospitalier Est, INSERM U1028, CNRL, Waking Team, Claude Bernard Lyon 1 University, Bron, France

    Patricia Franco

Authors
  1. Sara Cabet
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Contributions

Design of the work: Sara Cabet, Massimiliano Rossi, and Federico Di Rocco. Analysis: Sara Cabet, Laurent Guibaud, Massimiliano Rossi, and Federico Di Rocco. Interpretation of data: Sara Cabet, Patricia Franco, Laurent Guibaud, Massimiliano Rossi, and Federico Di Rocco. Revised the work: Sara Cabet, Alexandru Szathmari, Carmine Mottolese, Patricia Franco, Laurent Guibaud, Massimiliano Rossi, and Federico Di Rocco. All authors approved the version to be published and agreed to be accountable for all aspects of the work.

Corresponding author

Correspondence to Federico Di Rocco.

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Ethics approval

All procedures performed in studies involving human participants 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. Institutional Review Board approval was obtained: the study protocol was approved by the Ethics Committee (Collège de neurochirurgie n°IRB00011687, 11/10/19).

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The authors declare that they have no conflict of interest.

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Cite this article

Cabet, S., Szathmari, A., Mottolese, C. et al. New insights in craniovertebral junction MR changes leading to stenosis in children with achondroplasia. Childs Nerv Syst 38, 1137–1145 (2022). https://doi.org/10.1007/s00381-022-05514-7

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