Journal of Clinical Pediatrics >
Neonatal severe hyperparathyroidism caused by novel variation in CASR gene: a case report
Received date: 2021-07-23
Online published: 2022-06-07
To improve the understanding of neonatal severe hyperparathyroidism (NSHPT). The clinical data, gene test result, treatment and prognosis of a child with NSHPT were retrospectively analyzed. A 14-day-old female infant presented with hyperbilirubinemia, poor feeding, lethargy, hypotonia, severe hypercalcemia and hyperparathyroidism 4 days after birth. She was found to carry novel compound heterozygous mutations of c.888C > A (p. Ser296Arg) (from father) and c.1576G > T (p. Glu526Ter) (from mother) in the CASR gene. The infant received multiple-dose intravenous zoledronate. After the drug treatment, symptoms improved including sucking, reaction and muscle tension. Serum calcium decreased obviously at first, but increased again after one week. Unilateral parathyroidectomy was performed 54 days after birth. Postoperative serum calcium reduced and the patient was discharged 64 days after birth. At 17 months of follow-up, the patient showed delayed growth and neurodevelopmental retardation. NSHPT is caused by an inactivation variation of the CASR gene and is characterized by severe hypercalcemia and hyperparathyroidism with growth retardation. Total parathyroidectomy is the first choice of treatment, bisphosphonates may have a certain effect.
Key words： neonate; hyperparathyroidism; CASR gene; hypercalcemia
Yingcan WANG , Jintong TAN , Yan CHEN , Qi HUANG , Hongping XIA . Neonatal severe hyperparathyroidism caused by novel variation in CASR gene: a case report[J]. Journal of Clinical Pediatrics, 2022 , 40(6) : 442 -445 . DOI: 10.12372/jcp.2022.21e1090
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