Neonatal severe hyperparathyroidism due to compound heterozygous mutation of calcium sensing receptor (CaSR) gene presenting as encephalopathy

Abhishek Kulkarni; Mahesh Mohite; Ramaa Vijaykumar; Prasanna Bansode; Sachin Murade; Parag M Tamhankar

doi:10.1007/s12098-014-1442-3

Neonatal severe hyperparathyroidism due to compound heterozygous mutation of calcium sensing receptor (CaSR) gene presenting as encephalopathy

Indian J Pediatr. 2014 Nov;81(11):1228-9. doi: 10.1007/s12098-014-1442-3. Epub 2014 Apr 26.

Authors

Abhishek Kulkarni¹, Mahesh Mohite, Ramaa Vijaykumar, Prasanna Bansode, Sachin Murade, Parag M Tamhankar

Affiliation

¹ Department of Pediatrics & Adolescent Endocrinology, Jaslok Hospital & Research Centre, Mumbai, India.

PMID: 24763815
DOI: 10.1007/s12098-014-1442-3

Abstract

The authors report a 14-d-old neonate who presented with lethargy, polyuria and dehydration and was found to have severe hypercalcemia with hyperparathyroidism. This neonate was treated with saline hydration, diuresis and injection pamidronate. Genetic analysis revealed a compound heterozygous mutation of CaSR.

MeSH terms

Brain Diseases / diagnosis
Brain Diseases / genetics
Brain Diseases / therapy
Diagnosis, Differential
Heterozygote
Humans
Hypercalcemia / diagnosis
Hypercalcemia / genetics
Hypercalcemia / therapy
Hyperparathyroidism / diagnosis*
Hyperparathyroidism / genetics*
Hyperparathyroidism / therapy
Infant, Newborn
Male
Receptors, Calcium-Sensing / genetics*

Substances

Receptors, Calcium-Sensing