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Hereditary multiple exostoses and cervical ventral protuberance causing dysphagia. A case report

T E Barros Filho1, R P Oliveira, M A Taricco

  • 1Department of Orthopaedics, School of Medicine, University of Sao Paulo, Brazil.

Spine
|July 15, 1995
PubMed
Summary

A rare case of hereditary multiple exostosis caused cervical spine tumor leading to dysphagia. Surgical excision via a transoral approach resulted in a favorable outcome with no recurrence.

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Area of Science:

  • Neurosurgery
  • Genetics
  • Otolaryngology

Background:

  • Hereditary multiple exostosis (HME) is a rare genetic disorder characterized by the formation of multiple osteochondromas.
  • Cervical spine involvement in HME is uncommon, and anterior arch tumors causing dysphagia are exceptionally rare.

Observation:

  • A 16-year-old female with a known history of HME presented with progressive dysphagia.
  • Imaging revealed a ventral protuberance on the anterior arch of the atlas, consistent with an exostosis.
  • The patient's father also had HME, confirming the hereditary nature of the condition.

Findings:

  • Diagnosis was confirmed using radiography, computed tomography (CT), and magnetic resonance imaging (MRI).
  • Surgical excision of the cervical exostosis was performed using a transoral approach.

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  • Histopathological examination confirmed the diagnosis of osteochondroma.

    • Implications:

    • This case highlights a rare presentation of HME with significant cervical spine impact.
    • Transoral excision is an effective treatment for anterior cervical exostosis causing dysphagia.
    • Long-term follow-up demonstrated a positive outcome with no signs of tumor recurrence.