Severe infantile hypercalcemia associated with williams syndrome successfully treated with intravenously administered pamidronate

Andrew P. Cagle, Steven G. Waguespack, Bruce A. Buckingham, R. Ravi Shankar, Linda DiMeglio

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1091-1095
Number of pages5
JournalPediatrics
Volume114
Issue number4
DOIs
StatePublished - Oct 2004

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pamidronate
Williams Syndrome
Hypercalcemia
Hypocalcemia
Diphosphonates
Fluorescence In Situ Hybridization
Infantile Hypercalcemia

Keywords

  • Bisphosphonate
  • Hypercalcemia
  • Pamidronate
  • Williams syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Severe infantile hypercalcemia associated with williams syndrome successfully treated with intravenously administered pamidronate. / Cagle, Andrew P.; Waguespack, Steven G.; Buckingham, Bruce A.; Ravi Shankar, R.; DiMeglio, Linda.

In: Pediatrics, Vol. 114, No. 4, 10.2004, p. 1091-1095.

Research output: Contribution to journalArticle

Cagle, Andrew P. ; Waguespack, Steven G. ; Buckingham, Bruce A. ; Ravi Shankar, R. ; DiMeglio, Linda. / Severe infantile hypercalcemia associated with williams syndrome successfully treated with intravenously administered pamidronate. In: Pediatrics. 2004 ; Vol. 114, No. 4. pp. 1091-1095.
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