Published online October 1, 2004
PEDIATRICS Vol. 114 No. 4 October 2004, pp. 1091-1095 (doi:10.1542/peds.2003-1146-L)
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EXPERIENCE AND REASON

Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate

Andrew P. Cagle, MD*, Steven G. Waguespack, MD{ddagger}, Bruce A. Buckingham, MD§, R. Ravi Shankar, MD* and Linda A. DiMeglio, MD*

* Department of Pediatrics, Section of Pediatric Endocrinology and Diabetology, Indiana University School of Medicine, Indianapolis, Indiana
{ddagger} Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas M. D. Anderson Cancer Center, Houston, Texas
§ Section of Pediatric Endocrinology and Diabetology, Stanford University School of Medicine, Stanford, California

Infantile hypercalcemia occurs in ~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.

Key Words: Williams syndrome • bisphosphonate • hypercalcemia • pamidronate

Abbreviations: WS, Williams syndrome • FISH, fluorescent in situ hybridization • PTH, parathyroid hormone • 25-OHD, 25-hydroxyvitamin D • 1,25-(OH)2D, 1,25-dihydroxyvitamin D • Ca/Cr, calcium/creatinine

Accepted Apr 1, 2004.


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