Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered pamidronate PEDIATRICS Cagle, A. P., Waguespack, S. G., Buckingham, B. A., Shankar, R. R., DiMeglio, L. A. 2004; 114 (4): 1091-1095

Abstract

Infantile hypercalcemia occurs in approximately 15% of children with Williams syndrome (WS) and is typically not clinically severe. We report on 3 children with WS (confirmed with fluorescent in situ hybridization probes) who presented with severe symptomatic hypercalcemia. The first patient's severe hypercalcemia resolved with traditional therapies, whereas the subsequent 2 patients were treated with intravenously administered pamidronate after traditional measures proved only partially successful. Besides asymptomatic mild hypocalcemia, there were no complications resulting from pamidronate administration. We conclude that WS-associated hypercalcemia can be quite severe and symptomatic and that it can be successfully and safely treated with intravenously administered bisphosphonate in some cases.

View details for DOI 10.1542/peds.2003-1146-L

View details for Web of Science ID 000224242200052

View details for PubMedID 15466114