Long-term control of hypercalcaemia in an infant with williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate).

AIM: To report the efficacy of Pamidronate to treat hypercalcaemia in a patient with Williams-Beuren syndrome (WBS).

RESULTS

We report a 14-mo-old male infant presenting hypercalcaemia, elfin face and other dysmorphological features of WBS, confirmed by the FISH fluorescent test. Due to the marked symptomatic hypercalcaemia, 13.0 mg/dl intravenous Pamidronate was administered in a single dose of 1 mg/kg. Two days later, serum calcium diminished to normal levels, and remained within normal range during 12 mo follow-up.

CONCLUSION

Pamidronate appears to be effective in paediatric patients with WBS and hypercalcaemia.