Article
A Case of Neonatal Severe Hyperparathyroidism: Challenges in Management.
Indian journal of pediatrics - 1 Oct 2022
Gupta Priyanka, Tak Shafat Ahmad, S Arun Viswanath, Misgar Raiz Ahmad, Agarwala Sandeep, Jain Vandana, Sharma Rajni
Abstract excerpt
Neonatal severe hyperparathyroidism is a rare disorder arising from inherited defects in the calcium sensing receptor (CaSR) that presents early in life with severe hypercalcemia, failure to thrive, and developmental retardation. The authors describe an infant with neonatal severe hyperparathyroidism due to homozygous CaSR gene mutation presenting with recurrent episodes of severe hypercalcemia, growth...
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