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Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement

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Abstract

Purpose

Achondroplasia is a skeletal dysplasia with diminished growth of the skull base secondary to defective enchondral bone formation. This leads to narrowing of the foramen magnum and jugular foramina, which further leads to ventricular dilatation and prominence of the emissary veins. The primary goal of our study was to determine a correlation between the degree of ventricular dilatation, jugular foramina and foramen magnum narrowing, as well as emissary vein enlargement.

Methods

Conventional T2-weighted MR images were evaluated for surface area of the foramen magnum and jugular foramina, ventricular dilatation, and emissary veins enlargement in 16 achondroplasia patients and 16 age-matched controls. Ratios were calculated for the individual parameters using median values from age-matched control groups to avoid age as a confounder.

Results

Compared to age-matched controls, in children with achondroplasia, the surface area of the foramen magnum (median 0.50 cm2, range 0.23–1.37 cm2 vs. 3.14 cm2, 1.83–6.68 cm2, p < 0.001) and jugular foramina (median 0.02 cm2, range 0–0.10 cm2 vs. 0.21 cm2, 0.03–0.61 cm2, p < 0.001) were smaller, whereas ventricular dilatation (0.28, 0.24–0.4 vs. 0.26, 0.21–0.28, p < 0.001) and enlargement of emissary veins (6, 0–11 vs. 0, p < 0.001) were higher. Amongst the patients, Spearman correlation and multiple regression analysis did not reveal correlation for severity between the individual parameters.

Conclusions

Our study suggests that in children with achondroplasia, (1) the variation in ventricular dilatation may be related to an unquantifiable interdependent relationship of emissary vein enlargement, venous channel narrowing, and foramen magnum compression and (2) stable ventricular size facilitated by interdependent factors likely obviates the need for ventricular shunt placement.

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Grant/financial support

Benedikt Hergan’s work on the study was partially supported by a scholarship grant from the Medical University of Graz, Austria. Kathryn Carson’s work on the study was supported by the National Center for Research Resources and the National Center for Advancing Translational Sciences (NCATS) of the National Institutes of Health through Grant Number 1UL1TR001079.

Authors’ contributions

TB, TAGMH, and AP conceptualized and designed the study; AP generally supervised the study; TB, GO, BH, and AP participated in the acquisition of data; TB, GO, and BH analyzed conventional neuroimaging data; TB, GO, BH, TAGMH, and AP interpreted the results; KAC performed statistical analysis; TB drafted the manuscript; All the co-authors critically revised the manuscript for intellectual content and read and approved the final manuscript.

Conflict of interest

All coauthors do not report conflicts of interest.

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Authors and Affiliations

  1. Section of Pediatric Neuroradiology, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins School of Medicine, Charlotte R. Bloomberg Children’s Center, Sheikh Zayed Tower, Room 4174, 1800 Orleans Street, Baltimore, MD, 21287-0842, USA

    Thangamadhan Bosemani, Gunes Orman, Benedikt Hergan, Thierry A. G. M. Huisman & Andrea Poretti

  2. Medical University of Graz, Graz, Austria

    Benedikt Hergan

  3. Department of Epidemiology, The Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA

    Kathryn A. Carson

  4. Division of General Internal Medicine, Department of Medicine, The Johns Hopkins School of Medicine, Baltimore, MD, USA

    Kathryn A. Carson

Authors
  1. Thangamadhan Bosemani
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  2. Gunes Orman
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  3. Benedikt Hergan
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  4. Kathryn A. Carson
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  5. Thierry A. G. M. Huisman
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  6. Andrea Poretti
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Corresponding author

Correspondence to Andrea Poretti.

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Bosemani, T., Orman, G., Hergan, B. et al. Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement. Childs Nerv Syst 31, 129–133 (2015). https://doi.org/10.1007/s00381-014-2559-4

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  • DOI: https://doi.org/10.1007/s00381-014-2559-4

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