Recommendations for neuroradiological examinations in children living with achondroplasia: a European Society of Pediatric Radiology and European Society of Neuroradiology opinion paper

Pediatr Radiol. 2023 Nov;53(12):2323-2344. doi: 10.1007/s00247-023-05728-0. Epub 2023 Sep 6.

Abstract

Children living with achondroplasia are at an increased risk of developing neurological complications, which may be associated with acute and life-altering events. To remediate this risk, the timely acquisition of effective neuroimaging that can help to guide clinical management is essential. We propose imaging protocols and follow-up strategies for evaluating the neuroanatomy of these children and to effectively identify potential neurological complications, including compression at the cervicomedullary junction secondary to foramen magnum stenosis, spinal deformity and spinal canal stenosis. When compiling these recommendations, emphasis has been placed on reducing scan times and avoiding unnecessary radiation exposure. Standardized imaging protocols are important to ensure that clinically useful neuroimaging is performed in children living with achondroplasia and to ensure reproducibility in future clinical trials. The members of the European Society of Pediatric Radiology (ESPR) Neuroradiology Taskforce and European Society of Neuroradiology pediatric subcommittee, together with clinicians and surgeons with specific expertise in achondroplasia, wrote this opinion paper. The research committee of the ESPR also endorsed the final draft. The rationale for these recommendations is based on currently available literature, supplemented by best practice opinion from radiologists and clinicians with subject-specific expertise.

Keywords: Achondroplasia; Computed tomography; Craniovertebral junction; Foramen magnum stenosis; Magnetic resonance imaging; Spinal stenosis.

Publication types

  • Review

MeSH terms

  • Achondroplasia* / diagnostic imaging
  • Child
  • Constriction, Pathologic
  • Foramen Magnum / surgery
  • Humans
  • Infant
  • Radiology*
  • Reproducibility of Results