Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
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...
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doaj-6b90cda09d984b3c8482fd636b00914d2020-11-25T02:32:51ZengBMCBMC Pediatrics1471-24312018-10-011811710.1186/s12887-018-1319-0Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutationManuela Capozza0Iolanda Chinellato1Vito Guarnieri2Natascia Di lorgi3Maria Accadia4Cristina Traggiai5Girolamo Mattioli6Antonio Di Mauro7Nicola Laforgia8Neonatology and Neonatal Intensive Care Unit, Department of Biomedical Science ad Human Oncology, University of Bari “Aldo Moro”S.C. Pediatria, P.O.C. SS. Annunziata HospitalMedical Genetics, IRCCS Casa Sollievo della Sofferenza HospitalDepartment of Pediatrics, Endocrine, Diabetes and Metabolic Unit, Istituto Giannina Gaslini, University of GenovaMedical Genetics, IRCCS Casa Sollievo della Sofferenza HospitalNeonatology and Neonatal Intensive Care Unit, Istituto Giannina GasliniPediatric Surgery Unit, Istituto Giannina Gaslini, University of GenoaNeonatology and Neonatal Intensive Care Unit, Department of Biomedical Science ad Human Oncology, University of Bari “Aldo Moro”Neonatology and Neonatal Intensive Care Unit, Department of Biomedical Science ad Human Oncology, University of Bari “Aldo Moro”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.http://link.springer.com/article/10.1186/s12887-018-1319-0HypercalcemiaCalcium sensing receptorNeonatal severe primary hyperparathyroidismOut-of-hospital cardiorespiratory arrestParathyroidectomy |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Manuela Capozza Iolanda Chinellato Vito Guarnieri Natascia Di lorgi Maria Accadia Cristina Traggiai Girolamo Mattioli Antonio Di Mauro Nicola Laforgia |
spellingShingle |
Manuela Capozza Iolanda Chinellato Vito Guarnieri Natascia Di lorgi Maria Accadia Cristina Traggiai Girolamo Mattioli Antonio Di Mauro Nicola Laforgia Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation BMC Pediatrics Hypercalcemia Calcium sensing receptor Neonatal severe primary hyperparathyroidism Out-of-hospital cardiorespiratory arrest Parathyroidectomy |
author_facet |
Manuela Capozza Iolanda Chinellato Vito Guarnieri Natascia Di lorgi Maria Accadia Cristina Traggiai Girolamo Mattioli Antonio Di Mauro Nicola Laforgia |
author_sort |
Manuela Capozza |
title |
Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation |
title_short |
Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation |
title_full |
Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation |
title_fullStr |
Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation |
title_full_unstemmed |
Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation |
title_sort |
case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel casr mutation |
publisher |
BMC |
series |
BMC Pediatrics |
issn |
1471-2431 |
publishDate |
2018-10-01 |
description |
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. |
topic |
Hypercalcemia Calcium sensing receptor Neonatal severe primary hyperparathyroidism Out-of-hospital cardiorespiratory arrest Parathyroidectomy |
url |
http://link.springer.com/article/10.1186/s12887-018-1319-0 |
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