Unusual case of neonatal hypercalcemia.

Abstract

We present a rare case of neonatal hyperparathyroidism secondary to a homozygous calcium sensing receptor (CASR) mutation, diagnosed by the genetics team. The CASR mutation is a homozygous inactivating mutation at the calcium sensing receptor. Inactivation of the receptor leads to hypercalcemia and activation leads to hypocalcemia. Heterozygous mutations can cause mild forms of asymptomatic hypercalcemia that often run in families. The homozygous mutation causes a rare form of neonatal severe hyperparathyroidism.

• Authors: Todd M Brickman, Matthew W Stark, Anita Jeyakumar
• Journal: International journal of pediatric otorhinolaryngology (Int J Pediatr Otorhinolaryngol) Vol. 79 Issue 5 Pg. 758-9 (May 2015) ISSN: 1872-8464 [Electronic] Ireland
• PMID: 25792032 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Chemical References

• Receptors, Calcium-Sensing

Topics

• Female
• Homozygote
• Humans
• Hypercalcemia (diagnosis, genetics, therapy)
• Hyperparathyroidism (diagnosis, genetics, therapy)
• Infant, Newborn
• Mutation (genetics)
• Receptors, Calcium-Sensing (genetics)