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[Osteopetrosis in a 16-year old boy]
D Sońta-Jakimczyk1, W Gawlicki
1Kliniki Pediatrii i Hematologii Sl. Ak. Med., Katowicach.
Wiadomosci Lekarskie (Warsaw, Poland : 1960)
|July 1, 1993
Summary
Marble bone disease, a rare genetic disorder, caused multiple fractures and extramedullary metaplasia in a teenage boy. Treatment with prednisone and a low calcium diet offered limited, temporary relief for this severe condition.
Area of Science:
- Medical Genetics
- Hematology
- Pediatric Endocrinology
Background:
- Marble bone disease (osteopetrosis) is a rare genetic disorder characterized by impaired osteoclast function, leading to dense bones.
- Affected individuals often experience skeletal deformities, fractures, and extramedullary hematopoiesis.
- This case highlights the complex clinical manifestations and management challenges in pediatric osteopetrosis.