Case report 718. Osteopetrosis with carbonic anhydrase II deficiency.

This case report describes the clinical and radiographic findings in an adult woman with osteopetrosis with carbonic anhydrase II deficiency. This uncommon entity is the only one of the five variants of osteopetrosis with a well-defined inborn error of metabolism. The radiographic combination of osteopetrosis and cerebral calcification should suggest the diagnosis, which can be confirmed with a blood sample demonstrating carbonic anhydrase II deficiency.