Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered pamidronate |
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Authors: | Cagle Andrew P Waguespack Steven G Buckingham Bruce A Shankar R Ravi Dimeglio Linda A |
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Affiliation: | Department of Pediatrics, Section of Pediatric Endocrinology and Diabetology, Indiana University School of Medicine, Indianapolis, Indiana, USA. |
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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. |
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