A Case Report of Hyperphosphatasia Treated with Pamidronate

Hereditary hyperphosphatasia is a congenital and rare disease with high bone turn over. The disease is defined with extremely elevated alkaline phosphatase levels. Neonates with hyperphosphatasia are normal at birth but develop progressive long bone deformities, fracture, vertebral collapse, skull enlargement due to massively thickened calvarium, and deafness.

Here, we described a male patient with progressive deformity in limbs and pain during walking that onset of symptoms was from age of two. The patient admitted to the Shahid Sadoughi Hospital, Yazd, was born from a non-consanguineous marriage. He was treated with pamidronate until halt of the disease progression and followed up for 18 months.

Bisphosphonate is the treatment of choice for hyperphosphatasia because it can normalize bone turnover, improve growth rates, and skeletal quality.