Hyperphosphatasemia in an adult. Clinical, conventional roentgenographic, and CT findings

A 47-year-old Saudi deaf lady with short stature presented being unable to walk. She had long standing diffuse skeletal deformities, and progressive head enlargement. She had markedly elevated serum alkaline phosphatase. The radiographic changes were those of hyperphosphatasemia, and the CT scanning of the skull, which was not studied before, further elicited the extensive calvarial and basilar changes. The various entities of hyperphosphatasemia with and without bony changes are reviewed