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Establishment of a Simple and Effective Rat Model for Intraoperative Parathyroid Gland Imaging

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Published on: August 17, 2022

Neonatal severe hyperparathyroidism: A case report.

Mahmood Shaukat¹, Hafiz Mahmood Ahmad², Muhammad Umar Shafiq³

¹Department of Paediatric Surgery, Ramzan Ali Syed Hospital, Lahore.

JPMA. the Journal of the Pakistan Medical Association

|May 29, 2023

Summary

This summary is machine-generated.

Neonatal severe hyperparathyroidism, a rare genetic disorder, was diagnosed in an infant with severe hypercalcemia. Genetic analysis revealed a Calcium sensing receptor (CaSR) gene mutation, leading to successful surgical management.

Keywords:

Neonatal severe Hyperparathyroidism, Serum Calcium, Parathyroid Hormone level, Parathyroidectomy.

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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.