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Updated: Mar 17, 2026

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Syringomyelia in hereditary multiple exostosis.

Janet M Legare1, Peggy Modaff2, Bermans J Iskandar3

  • 1Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin, Madison, Wisconsin. jmlegare@pediatrics.wisc.edu.

American Journal of Medical Genetics. Part A
|August 3, 2016
PubMed
Summary

Hereditary Multiple Exostosis (HME) patients may have a higher incidence of syringomyelia, often linked to tethered cords. Spinal MRI is recommended for early detection in HME patients exhibiting neurological symptoms.

Keywords:
EXTHMEexostosesfibrolipomahereditary multiple exostosesosteochondromasyrinxtethered cord

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Area of Science:

  • Medical Genetics
  • Neurology
  • Orthopedics

Background:

  • Hereditary Multiple Exostosis (HME) is a genetic disorder characterized by multiple bone tumors (exostoses).
  • Syringomyelia, a fluid-filled cyst within the spinal cord, can cause neurological deficits.
  • The association between HME and syringomyelia, particularly without spinal osteochondromas, requires further investigation.

Purpose of the Study:

  • To investigate the incidence and characteristics of syringomyelia in children with Hereditary Multiple Exostosis.
  • To determine the relationship between syringomyelia, tethered cord, and spinal osteochondromas in HME patients.
  • To assess the utility of spinal MRI in diagnosing neurological complications in HME.

Main Methods:

  • Retrospective review of patients diagnosed with Hereditary Multiple Exostosis (HME) at a specialized clinic.
  • Analysis of clinical data, neurological symptoms, and imaging findings (MRI) of the spine.
  • Correlation of syringomyelia and tethered cord/fibrolipoma presence with HME diagnosis.

Main Results:

  • Five children with HME were identified with co-existing syringomyelia; four also had a tethered cord/fibrolipoma.
  • No spinal osteochondromas were found in these HME patients with syringomyelia.
  • Approximately 13% of HME patients in the study cohort had syringomyelia, suggesting an increased incidence.

Conclusions:

  • Syringomyelia appears to be more common in patients with Hereditary Multiple Exostosis, independent of spinal osteochondromas.
  • Tethered cord/fibrolipoma may be associated with syringomyelia in the HME population.
  • A low threshold for spinal MRI is warranted in HME patients presenting with neurological signs or symptoms.