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

Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, Natascia Di Lorgi, Maria Accadia, Cristina Traggiai, Girolamo Mattioli, Antonio Di Mauro, Nicola Laforgia

Research output: Contribution to journalArticle

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 mutation of the CaSR, treated by successful subtotal parathyroidectomy, who had an acute presentation of the disease, i.e. out-of hospital cardiorespiratory arrest. .

CASE PRESENTATION: A 8-day-old female newborn was admitted to the NICU of University of Bari "Aldo Moro" (Italy) after a cardiorespiratory arrest occurred at home. Severe hypercalcemia was found and different drug therapies were employed (Furosemide, Cinacalcet and bisphosphonate), as well as hyperhydration, until subtotal parathyroidectomy, was performed at day 32. Our patient's mutation was never described before so that a strict and individualized long-term follow-up was started.

CONCLUSIONS: This case of NSHPT suggests that a near-miss event, labelled as a possible case of SIDS, could also be due to severe hypercalcemia and evidentiates the difficulties of the neonatal management of NSHPT. Furthermore, the identification of the specific CaSR mutation provides the substrate for prenatal diagnosis.

Original languageEnglish
Pages (from-to)340
JournalBMC Pediatrics
Volume18
Issue number1
DOIs
Publication statusPublished - Oct 30 2018

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Primary Hyperparathyroidism
Hypercalcemia
Parathyroidectomy
Mutation
Newborn Infant
Sudden Infant Death
Hyperparathyroidism
Bone Diseases
Furosemide
Diphosphonates
Acute Disease
Prenatal Diagnosis
Italy
Homeostasis
Calcium
Drug Therapy
Neonatal Severe Primary Hyperparathyroidism

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Case report : acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation. / Capozza, Manuela; Chinellato, Iolanda; Guarnieri, Vito; Di Lorgi, Natascia; Accadia, Maria; Traggiai, Cristina; Mattioli, Girolamo; Di Mauro, Antonio; Laforgia, Nicola.

In: BMC Pediatrics, Vol. 18, No. 1, 30.10.2018, p. 340.

Research output: Contribution to journalArticle

Capozza, Manuela ; Chinellato, Iolanda ; Guarnieri, Vito ; Di Lorgi, Natascia ; Accadia, Maria ; Traggiai, Cristina ; Mattioli, Girolamo ; Di Mauro, Antonio ; Laforgia, Nicola. / Case report : acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation. In: BMC Pediatrics. 2018 ; Vol. 18, No. 1. pp. 340.
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