Severe hypercalcemia without hypercalciuria in a previously healthy infant

Bradley C. Clark, Rita Fleming, Michael C. Spaeder, Shamir Tuchman

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Williams-Beuren syndrome (WBS) is a multisystem disorder that has a broad range of clinical findings including characteristic facial appearance, supravalvular aortic stenosis, dental and developmental abnormalities, and endocrinologic disorders including but not limited to the development of hypercalcemia. We present the case of a 10-month-old girl, with a history of intrauterine growth restriction, who presented with symptoms of weight loss and poor feeding. She was found to have severe elevation of her serum calcium to 20 mg/dL. She was subsequently diagnosed with WBS by fl uorescent in situ hybridization analysis. The exact etiology of hypercalcemia in patients with WBS is unknown, but there are several hypotheses. Treatment of hypercalcemia in WBS is achieved with intravenous (IV) fl uids, loop diuretics, and a low calcium diet; bisphosphonate therapy is required if adequate decreases in the serum calcium level are not achieved with traditional therapy.

Original languageEnglish (US)
Pages (from-to)187-190
Number of pages4
JournalJournal of Pediatric Endocrinology and Metabolism
Volume25
Issue number1-2
DOIs
StatePublished - Feb 1 2012

Fingerprint

Williams Syndrome
Hypercalciuria
Hypercalcemia
Calcium
Tooth Abnormalities
Supravalvular Aortic Stenosis
Sodium Potassium Chloride Symporter Inhibitors
Diphosphonates
Serum
In Situ Hybridization
Weight Loss
Therapeutics
Diet
Growth

Keywords

  • Calcium-sensing receptor
  • Hypercalcemia
  • PTH
  • Urine calcium/creatinine ratio
  • Williams-Beuren syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Severe hypercalcemia without hypercalciuria in a previously healthy infant. / Clark, Bradley C.; Fleming, Rita; Spaeder, Michael C.; Tuchman, Shamir.

In: Journal of Pediatric Endocrinology and Metabolism, Vol. 25, No. 1-2, 01.02.2012, p. 187-190.

Research output: Contribution to journalArticle

Clark, Bradley C. ; Fleming, Rita ; Spaeder, Michael C. ; Tuchman, Shamir. / Severe hypercalcemia without hypercalciuria in a previously healthy infant. In: Journal of Pediatric Endocrinology and Metabolism. 2012 ; Vol. 25, No. 1-2. pp. 187-190.
@article{7f755d171ed248289de632737de3e28f,
title = "Severe hypercalcemia without hypercalciuria in a previously healthy infant",
abstract = "Williams-Beuren syndrome (WBS) is a multisystem disorder that has a broad range of clinical findings including characteristic facial appearance, supravalvular aortic stenosis, dental and developmental abnormalities, and endocrinologic disorders including but not limited to the development of hypercalcemia. We present the case of a 10-month-old girl, with a history of intrauterine growth restriction, who presented with symptoms of weight loss and poor feeding. She was found to have severe elevation of her serum calcium to 20 mg/dL. She was subsequently diagnosed with WBS by fl uorescent in situ hybridization analysis. The exact etiology of hypercalcemia in patients with WBS is unknown, but there are several hypotheses. Treatment of hypercalcemia in WBS is achieved with intravenous (IV) fl uids, loop diuretics, and a low calcium diet; bisphosphonate therapy is required if adequate decreases in the serum calcium level are not achieved with traditional therapy.",
keywords = "Calcium-sensing receptor, Hypercalcemia, PTH, Urine calcium/creatinine ratio, Williams-Beuren syndrome",
author = "Clark, {Bradley C.} and Rita Fleming and Spaeder, {Michael C.} and Shamir Tuchman",
year = "2012",
month = "2",
day = "1",
doi = "10.1515/jpem-2011-0396",
language = "English (US)",
volume = "25",
pages = "187--190",
journal = "Journal of Pediatric Endocrinology and Metabolism",
issn = "0334-018X",
publisher = "Walter de Gruyter GmbH & Co. KG",
number = "1-2",

}

TY - JOUR

T1 - Severe hypercalcemia without hypercalciuria in a previously healthy infant

AU - Clark, Bradley C.

AU - Fleming, Rita

AU - Spaeder, Michael C.

AU - Tuchman, Shamir

PY - 2012/2/1

Y1 - 2012/2/1

N2 - Williams-Beuren syndrome (WBS) is a multisystem disorder that has a broad range of clinical findings including characteristic facial appearance, supravalvular aortic stenosis, dental and developmental abnormalities, and endocrinologic disorders including but not limited to the development of hypercalcemia. We present the case of a 10-month-old girl, with a history of intrauterine growth restriction, who presented with symptoms of weight loss and poor feeding. She was found to have severe elevation of her serum calcium to 20 mg/dL. She was subsequently diagnosed with WBS by fl uorescent in situ hybridization analysis. The exact etiology of hypercalcemia in patients with WBS is unknown, but there are several hypotheses. Treatment of hypercalcemia in WBS is achieved with intravenous (IV) fl uids, loop diuretics, and a low calcium diet; bisphosphonate therapy is required if adequate decreases in the serum calcium level are not achieved with traditional therapy.

AB - Williams-Beuren syndrome (WBS) is a multisystem disorder that has a broad range of clinical findings including characteristic facial appearance, supravalvular aortic stenosis, dental and developmental abnormalities, and endocrinologic disorders including but not limited to the development of hypercalcemia. We present the case of a 10-month-old girl, with a history of intrauterine growth restriction, who presented with symptoms of weight loss and poor feeding. She was found to have severe elevation of her serum calcium to 20 mg/dL. She was subsequently diagnosed with WBS by fl uorescent in situ hybridization analysis. The exact etiology of hypercalcemia in patients with WBS is unknown, but there are several hypotheses. Treatment of hypercalcemia in WBS is achieved with intravenous (IV) fl uids, loop diuretics, and a low calcium diet; bisphosphonate therapy is required if adequate decreases in the serum calcium level are not achieved with traditional therapy.

KW - Calcium-sensing receptor

KW - Hypercalcemia

KW - PTH

KW - Urine calcium/creatinine ratio

KW - Williams-Beuren syndrome

UR - http://www.scopus.com/inward/record.url?scp=84858205720&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84858205720&partnerID=8YFLogxK

U2 - 10.1515/jpem-2011-0396

DO - 10.1515/jpem-2011-0396

M3 - Article

C2 - 22570974

AN - SCOPUS:84858205720

VL - 25

SP - 187

EP - 190

JO - Journal of Pediatric Endocrinology and Metabolism

JF - Journal of Pediatric Endocrinology and Metabolism

SN - 0334-018X

IS - 1-2

ER -