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Neonatal Severe Primary Hyperparathyroidism: A Case Report on the Successful Management of Hypercalcemia with Phosphorus Supplementation

Year: 2025

Type: article

Abstract: Neonatal Severe Primary Hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder caused by inactivating mutations in the calcium-sensing receptor (CaSR) gene, leading to severe hypercalcemia and elevated parathyroid hormone levels. We report the case of a 7-day-old girl who presented with hypercalcemic crisis and was treated with hyperhydration, bisphosphonates, and phosphorus supplementation. Despite initial management, cinacalcet showed limited efficacy, suggesting a homozygous phenotype. Long-term management remains challenging, with surgery being the ultimate solution. Genetic analysis is crucial to guide treatment strategies.

Source: Scholars Journal of Medical Case Reports

DOI: 10.36347/sjmcr.2025.v13i03.025

Authors: Fatima Mbarki, Mouad Marrakchi Benjaafar, Fouzia Hmami

Institutions: Centre Hospitalier Universitaire Hassan II, Sidi Mohamed Ben Abdellah University

Language: English

Topic: Parathyroid Disorders and Treatments

Subfield: Nephrology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4408724397

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