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Hereditary multiple exostoses with spine involvement in a 4-year-old boy
Navid Ezra1, Beatrice Tetteh, Michael Diament
1David Geffen School of Medicine at UCLA, Los Angeles, CA 90509, USA. navid.ezra@ucla.edu
American Journal of Medical Genetics. Part A
|April 29, 2010
Summary
Hereditary multiple exostosis (HME) can cause serious spinal cord compression. This case highlights acute cervical spinal cord compression in a child due to osteochondromas, a known HME complication.
Area of Science:
- Orthopedics
- Genetics
- Neurology
Background:
- Hereditary multiple exostosis (HME) is an autosomal dominant genetic disorder.
- It is characterized by the development of multiple osteochondromas (bony growths).
Observation:
- A 4-year-old Mexican-American boy with HME presented with acute cervical spinal cord compression.
- The compression was caused by an osteochondroma located at the C7 and T1 vertebrae lamina.
- His sibling with HME also experienced spinal cord compression from a similar bony exostosis.
Findings:
- Osteochondromas in HME can lead to severe neurological complications.
- Cervical spinal cord compression is a critical manifestation of HME.
Implications:
- Early recognition and management of spinal complications in HME are crucial.
- This case underscores the potential severity of HME, particularly in pediatric patients.
- Further research into monitoring and treatment strategies for HME-related spinal issues is warranted.
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