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.
Cagle
Andrew P
AP
Department of Pediatrics, Section of Pediatric Endocrinology and Diabetology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Waguespack
Steven G
SG
Buckingham
Bruce A
BA
Shankar
R Ravi
RR
Dimeglio
Linda A
LA
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