Suspecting neonatal severe primary hyperparathyroidism in late onset neonatal sepsis

Autor: Naseer Yousuf Mir, S Aashiq Andrabi, Mohd Ashraf, Umer A Qureshi
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Indian Pediatrics Case Reports, Vol 2, Iss 2, Pp 117-120 (2022)
Druh dokumentu: article
ISSN: 2772-5170
2772-5189
DOI: 10.4103/ipcares.ipcares_21_22
Popis: Background: Neonatal severe primary hyperparathyroidism (NSPHPT) is disorder characterized by severe hypercalcemia and severe hyperparathyroidism resulting from a loss of function of the calcium-sensing receptor (CaSR), encoded by a gene located on the long arm of chromosome 3 (3q-13.3-21). It can be fatal if timely management is not initiated. Clinical Description: A 10-day-old exclusively breastfed girl presented with poor feeding, constipation, and lethargy for 2–3 days before admission. She was born of third-degree consanguinity to a primiparous woman with normal gestation. Born at term, with a birth weight of 3.1 kg, she was discharged uneventfully on day 3 of life. At admission, she was hemodynamically stable and normothermic but exhibited tachypnea, dehydrated with 15% weight loss as compared to birth weight, lethargy, and hypotonia. Salient investigations showed euglycemia, no dyselectrolytemia, and negative sepsis screen, but severe hypercalcemia and hyperparathyroidism. A final diagnosis of NSPHPT was made. Clinical exome sequencing showed homozygous CaSR gene frameshift mutation on chromosome 3. Management: Hypercalcemia was managed initially by standard protocol, including furosemide, hyperhydration, bisphosphonates, and cinacalcet. Subsequently, parathyroidectomy was performed at 2 months of age. Postoperatively, the infant is 5 months old and thriving well. Conclusion: NSPHPT should be considered in the presence of features of clinical sepsis, failure to timely regain birth weight, and a profile suggesting atypical calcium homeostasis.
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