Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered pamidronate.
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.
Department of Pediatrics, Section of Pediatric Endocrinology and Diabetology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Andrew P
AP
Cagle
Steven G
SG
Waguespack
Bruce A
BA
Buckingham
R Ravi
RR
Shankar
Linda A
LA
Dimeglio
D002136:Calcium, Dietary / Q000008:administration & dosage; D004164:Diphosphonates / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000188:drug therapy* / Q000209:etiology; D007223:Infant; D007262:Infusions, Intravenous; D008297:Male; D000077268:Pamidronate; D014807:Vitamin D / Q000097:blood; D018980:Williams Syndrome / Q000150:complications*
D002136:Calcium, Dietary; D004164:Diphosphonates; D014807:Vitamin D; D000077268:Pamidronate