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

OLIVERI BEATRIZ; MASTAGLIA SR; MAUTALEN C; GRAVANO JC; PARDO ARGERICH L

ACTA PAEDIATRICA

WILEY-BLACKWELL PUBLISHING, INC

Año: 2004 p. 1002 - 1003

0803-5253

Williams-Bueren syndrome (WBS) is an autosomal dominant disorder characterized by peculiar face, congenital cardiovascular anomalies, mental retardation and growth deficiency. Fifteen of 40% of patients with WBS also present hyercalcaemia and hypercalciuria, wich becomes evident during the first year of life. Due to hypercalcaemia, patients amy suffer feeding problems, irritability and lethargy. A variety of vitamin D abnormalities has been reported in the pathogenesis of calcium disorder. However, findings are not consistent, and there is no definitive therapy, for hypercacaemia in WBS. We report the successful treatment of marked hypercalcaemia in a child with WBS, by administration of a single intravenous infusion of Pamidronate.