info:eu-repo/semantics/article
Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)
Fecha
2004-07Registro en:
Oliveri, María Beatriz; Mastaglia, Silvina Rosana; Mautalen, Carlos Alfredo; Gravano, J.C.; Pardo Argerich, L.; Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate); Wiley Blackwell Publishing, Inc; Acta Paediatrica; 93; 7; 7-2004; 1002-1003
0803-5253
CONICET Digital
CONICET
Autor
Oliveri, María Beatriz
Mastaglia, Silvina Rosana
Mautalen, Carlos Alfredo
Gravano, J.C.
Pardo Argerich, L.
Resumen
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.