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Cranio-cervical junction malformation causing cord compression in infant with achondroplasia: a bigger picture

S Caratella1, M Tarazi2, F T Tomalieh2

  • 1Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.

British Journal of Neurosurgery
|December 3, 2019
PubMed

Insights

Achondroplasia can cause life-threatening foramen magnum stenosis. This case highlights a large opisthion causing spinal canal narrowing, a severe neurological complication of this genetic disorder.

Area of Science:

  • Medical Genetics
  • Neurology
  • Orthopedics

Background:

  • Achondroplasia is a common genetic disorder characterized by disproportionate short stature and skeletal dysplasia.
  • Neurological complications, particularly those affecting the foramen magnum and cervical spinal cord, can arise in achondroplastic individuals.

Observation:

  • This report details a specific case of achondroplasia presenting with significant narrowing of the foramen magnum.
  • The narrowing was attributed to a large opisthion, an anatomical variant at the base of the skull.

Findings:

  • The opisthion extended into the spinal canal, causing stenosis at the craniocervical junction.
  • This anatomical abnormality led to foramen magnum stenosis and cervicomedullary compression.

Implications:

  • Foramen magnum stenosis and cervicomedullary stenosis represent critical neurological manifestations of achondroplasia.
  • Early recognition and management of these complications are crucial for preventing potentially life-threatening outcomes in patients with achondroplasia.
Abstract

Keywords:
Achondroplasiacervicomedullary compressioncraniocervical compressionforamen magnum compression

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