Long-term control of hypercalcaemia in an infant with Willimas-Beuren syndrome after a single infusion of bisphospnate ( Pamidronate)

OLIVERI B, SR MASTAGLIA, MAUTALEN C, GRAVANO JC, PARDO ARGERICH L

ACTA PAEDIATRICA

Taylor&Francis

Lugar: Estocolmo, Suecia; Año: 2004 vol. Jul p. 1002 - 1003

0803-5253

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.