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

Abhishek Kulkarni1, Mahesh Mohite, Ramaa Vijaykumar

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

Indian Journal of Pediatrics
|April 26, 2014
PubMed

Insights

A neonate with severe hypercalcemia and hyperparathyroidism, presenting with lethargy and dehydration, was successfully treated. Genetic analysis identified a compound heterozygous mutation in the calcium-sensing receptor (CaSR) gene.

Area of Science:

  • Pediatric Endocrinology
  • Medical Genetics
  • Neonatology

Background:

  • Severe hypercalcemia and hyperparathyroidism can manifest in neonates, leading to critical health issues.
  • Early diagnosis and intervention are crucial for managing neonatal hypercalcemic conditions.

Purpose of the Study:

  • To report a case of neonatal hypercalcemia and hyperparathyroidism.
  • To describe the treatment approach and genetic findings in a affected neonate.

Main Methods:

  • Clinical presentation and management of a 14-day-old neonate with severe hypercalcemia.
  • Treatment included saline hydration, diuresis, and pamidronate injection.
  • Genetic analysis was performed to identify the underlying cause.

Main Results:

  • The neonate presented with lethargy, polyuria, and dehydration.
  • Genetic testing revealed a compound heterozygous mutation in the calcium-sensing receptor (CaSR) gene.
  • The neonate responded to medical management including pamidronate.

Conclusions:

  • Neonatal severe hypercalcemia with hyperparathyroidism can be caused by CaSR gene mutations.
  • Prompt medical treatment can effectively manage the condition.
  • Genetic analysis is essential for understanding the etiology of such cases.

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