Osteopetrosis complicated by multilevel spondylolysis

Abstract

Osteopetrosis is a heterogenous group of inheritable disorders which manifests as increased bone density and brittleness. The most common and mildest variant typically presents in adulthood with bone pain and pathologic fractures, including spondylolysis. We present the case of an otherwise healthy, active 17-year-old male with a history of osteopetrosis and 1 year of chronic back pain, found to have multilevel (L1–L4) spondylolysis in the setting of severe diffuse bony sclerosis consistent with osteopetrosis. While single-level spondylolysis is an uncommon complication of osteopetrosis, multilevel spondylolysis in the pediatric population is extremely rare and the genetics of prior cases studies have not been reported. Spondylolysis should be considered as one of the types of fractures that may occur in patients with osteopetrosis.

Keywords

• Multilevel spondylolysis
• Osteopetrosis
• CLCN7 (chloride voltage-gated channel 7)
• TCIRG1 (T cell immune regulator 1)
• LRP5 (low-density lipoprotein receptor-related protein 5)