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Osteopetrosis complicated by multilevel spondylolysis.
William W Pryor1, Carolina V Guimaraes1, Lane F Donnelly1
1Department of Radiology, University of North Carolina School of Medicine, Chapel Hill, NC, USA.
Radiology Case Reports
|January 31, 2024
Summary
Osteopetrosis patients may experience rare fractures like multilevel spondylolysis. This case highlights the need to consider spondylolysis in pediatric osteopetrosis with back pain.
Area of Science:
- Orthopedics
- Genetics
- Pediatric Medicine
Background:
- Osteopetrosis is a group of rare genetic disorders characterized by increased bone density and fragility.
- The adult form typically presents with bone pain and pathological fractures, such as spondylolysis.
Observation:
- A 17-year-old male with osteopetrosis and chronic back pain was diagnosed with multilevel spondylolysis (L1-L4).
- This occurred in the context of severe diffuse bony sclerosis, confirming osteopetrosis.
Findings:
- Multilevel spondylolysis is an exceptionally rare complication of osteopetrosis, particularly in the pediatric population.
- Previous case studies have not reported on the specific genetics associated with this complication.
Implications:
- Spondylolysis should be recognized as a potential fracture type in patients diagnosed with osteopetrosis.
- This case underscores the importance of considering rare fracture complications in pediatric patients with osteopetrosis.
Keywords:
CLCN7 (chloride voltage-gated channel 7)LRP5 (low-density lipoprotein receptor-related protein 5)Multilevel spondylolysisOsteopetrosisTCIRG1 (T cell immune regulator 1)More Related Videos
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