Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

• Main Authors: Manuela Capozza (Author), Iolanda Chinellato (Author), Vito Guarnieri (Author), Natascia Di lorgi (Author), Maria Accadia (Author), Cristina Traggiai (Author), Girolamo Mattioli (Author), Antonio Di Mauro (Author), Nicola Laforgia (Author)
• Format: Book
• Published: BMC, 2018-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Neonatal severe primary hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder of calcium homeostasis, characterized by striking hyperparathyroidism, marked hypercalcemia and hyperparathyroid bone disease. We report the case of a newborn with a novel homozygous mutati...