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Siblings with vascular involvement associated with hereditary multiples exostosis
Benjamin Blondel1, Franck Launay, Samuel Jacopin
1Department of Pediatric Orthopedic Surgery, Université Aix-Marseille, CHU Timone, Marseille, France. benjamin.blondel@ap-hm.fr
Journal of Pediatric Orthopedics. Part B
|October 20, 2011
Summary
Multiple hereditary exostoses (MHE) can cause rare vascular complications. This report details siblings with MHE experiencing hemothorax and arterial rupture, highlighting the need for vigilant monitoring and specific screenings.
Area of Science:
- Medical Genetics
- Vascular Surgery
- Pediatric Orthopedics
Background:
- Multiple hereditary exostoses (MHE) is a genetic disorder characterized by bone outgrowths.
- Vascular complications associated with MHE are uncommon, particularly in pediatric cases.
- Early diagnosis and management are crucial for improving patient outcomes.
Observation:
- A 10-year-old boy with MHE presented with hemothorax caused by a thoracic exostosis.
- The patient underwent successful surgical resection and chest tube drainage.
- Family history revealed a sister with MHE who experienced spontaneous brachial artery rupture and radial nerve palsy.
Findings:
- This case represents a rare instance of familial vascular complications in siblings with MHE.
- To our knowledge, this is the first reported family association of vascular lesions secondary to MHE.
- Thoracic exostoses can lead to life-threatening conditions like hemothorax.
Implications:
- Patients with MHE require lifelong clinical and radiographic surveillance.
- Identifying exostoses posing a risk for vascular compromise is essential.
- Specific screening examinations should be considered for MHE patients with thoracic lesions or a family history of vascular issues.
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