Needle in a Haystack—Parathyroid Gland in a 10-Day Old Infant: A Case Report and Literature Review

Adel Ismail,Fawziya Al-Khalaf,Tariq O Abbas

doi:10.5402/2011/678070

Adel Ismail, Fawziya Al-Khalaf + Show 1 more

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https://doi.org/10.5402/2011/678070

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Journal: ISRN Pediatrics	Publication Date: Aug 3, 2011
Citations: 4	License type: CC BY 3.0

Affiliation: Hamad General Hospital

Abstract

Neonatal severe primary hyperparathyroidism (NSPHT) is a rare autosomal recessive disorder of calcium homeostasis. It presents shortly after birth and is characterized by striking hyperparathyroidism, marked hypercalcemia, and hyperparathyroid bone disease. It is caused by mutations of the calcium-sensing receptor (CASR), the ionized calcium sensor for the parathyroid cells, the parafollicular thyroid C cells, and the kidney epithelium, as well as cells in bone and intestine. Without early intervention, which frequently requires surgical removal of the hyperplastic parathyroids, the patients often succumb to complications of hypercalcemia and respiratory failure. Finding the parathyroid gland in small neonates is not an easy task. Here we report on a patient with neonatal hyperparathyroidism who was treated by total parathyroidectomy and discuss the various ways of helping to find the parathyroid glands during surgery at this young age.

Highlights

Neonatal severe primary hyperparathyroidism (NSPHT) is a rare autosomal recessive disorder of calcium homeostasis
We report on a patient with neonatal hyperparathyroidism who was treated by total parathyroidectomy and discuss the various ways of helping to find the parathyroid glands during surgery at this young age
Some patients have been treated with acute medical management and subtotal parathyroidectomy, total parathyroidectomy with or without autotransplantation is the recommended line of management at the moment

Summary

Introduction

Neonatal severe primary hyperparathyroidism (NSPHT) is a rare autosomal recessive disorder of calcium homeostasis. We report on a patient with neonatal hyperparathyroidism who was treated by total parathyroidectomy and discuss the various ways of helping to find the parathyroid glands during surgery at this young age. On the second day of admission, the parathyroid hormone level was 573 ng/L (normal, 15–65 ng/L).

Results

Conclusion