Neonatal severe hyperparathyroidism: A case report

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• Neonatal severe hyperparathyroidism (NSHPT) is a rare genetic disorder affecting infants within the first six months of life.
• Early diagnosis and management are crucial for improving outcomes in affected neonates.

Observation:

• A male infant presented with lethargy, constipation, and feeding reluctance within the first month of life.
• Physical examination revealed dehydration, bradycardia, and hyperreflexia.
• Laboratory findings included hypercalcemia, hypophosphatemia, and elevated parathyroid hormone levels.

Findings:

• Genetic testing identified an autosomal recessive Calcium sensing receptor (CaSR) gene mutation.
• The patient's father was heterozygous for the mutation and asymptomatic, indicating autosomal recessive inheritance.
• Medical management with fluids, Furosemide, Pamidronate, and Cinacalcet showed inconsistent response.

Implications:

• Total parathyroidectomy with autotransplantation was performed due to medical management's limited efficacy.
• Postoperative care involved oral calcium and Alpha Calcidiol supplementation.
• This case highlights the importance of genetic testing in diagnosing NSHPT and underscores surgical intervention as a viable treatment option.