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Original research
Natural history of spinal cord compression stage AFMS3 in infants with achondroplasia: retrospective cohort study
  1. Moira Shang-Mei Cheung1,
  2. Alessandra Cocca2,
  3. Charlotte H Harvey2,
  4. Connor Stephen S Brett2,
  5. Amaka C Offiah3,
  6. Stephanie Borg4,
  7. Nathan Jenko4,
  8. Felice D’Arco2,5,
  9. Dominic Thompson6
  1. 1Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
  2. 2Evelina London Children's Hospital, London, UK
  3. 3Reader & Honorary Consultant Paediatric Radiologist, Academic Unit of Child Health, University of Sheffield, Sheffield, UK
  4. 4Sheffield Children's NHS Foundation Trust, Sheffield, UK
  5. 5Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
  6. 6Department of Paediatric Neurosurgery, Great Ormond Street Hospital, London, UK
  1. Correspondence to Dr Moira Shang-Mei Cheung; moira.cheung{at}gosh.nhs.uk

Abstract

Background and objective Foramen magnum stenosis (FMS) is a common, serious complication of achondroplasia in infancy and associated with sudden infant death. The Achondroplasia Foramen Magnum Score (AFMS; 0–4) is used to classify the severity of stenosis to inform appropriate neurosurgical management. Infants with AFMS4 are referred for neurosurgery, while well children with AFMS3 undergo repeat MRI routinely after 12 months.

As the natural history of children with AFMS3 is currently unclear, the objective was to review follow-up MRI scans of infants initially classified as AFMS3 to define more clearly the evolution of this degree of stenosis.

Design This retrospective cohort study, from two tertiary centres, included infants with a confirmed diagnosis of achondroplasia and AFMS3 on initial MRI who subsequently underwent repeat MRI or proceeded straight to neurosurgery.

Results Twenty-two cases satisfied the inclusion criteria. Mean age in months was 6.23 (SD±3.82) and 17.95 (SD±7.68) at baseline and follow-up scans, respectively. Follow-up MRI showed no change in 23% (N=5), improvement in 36% (N=8) to either AFMS1 (N=5) or AFMS2 (N=3). There was progression in 41% to AFMS4 (N=8). One case had neurosurgey without follow-up MRI (N=1).

Conclusions These results support MRI screening for FMS in infants with achondroplasia. Furthermore, infants with AFMS3 should undergo follow-up MRI as over 40% progress prompting neurosurgical intervention. There is currently no consensus on frequency or timing of screening for AFMS3 in achondroplasia; however, we suggest that guidance for follow-up imaging is modified to 6 months to detect progression earlier in this at-risk cohort.

  • Magnetic Resonance Imaging
  • Neurosurgery
  • Neuropathology

Data availability statement

Data are available upon reasonable request. Not applicable. We have the patient data in our hospital but if needed can share some anonymised summaries.

https://doi.org/10.1136/archdischild-2024-327035

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    Data availability statement

    Data are available upon reasonable request. Not applicable. We have the patient data in our hospital but if needed can share some anonymised summaries.

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    Footnotes

    • X @ACOffiah, @Great Ormond Street Neurosurgery@GOSH_Neurosurg

    • Contributors MS-MC conceptualised and designed the study, coordinated and supervised the data collection and drafted the initial manuscript. CHH, CSSB were involved with initial manuscript writing, DT conceptualised the study and reviewed progress. FD'A provided the images and reviewed the radiology. ACO reviewed the radiology. AC, CHH, CSSB, NJ, SB, ACO and MS designed the data collection instruments, collected the data and carried out the initial analyses. All authors reviewed, revised and approved the final manuscript. MS-MC is responsible for the overall content as a guarantor.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer-reviewed.