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

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. 1. Case Report The patient is a 3.2？Kg female the product of uneventful 38-week gestation. The parents are first cousins from Sri Lanka and were unaware of any similar cases in their extended family. APGAR scores were 8 and 9 at 1 and 5？min, respectively. The newborn was well for the first few days of life, but on the 7th day of life, she became progressively more hypoactive and fed poorly. She was transferred to a pediatric intensive care unit with a presumptive diagnosis of neonatal sepsis. On physical examination the weight was 2.2？Kg, with a loss of 1？Kg since birth. The infant was hypoactive and dehydrated. Blood pressure was 85/55？mmHg, with generalized hypotonia. Biochemical analysis showed hypercalcemia (corrected calcium, 4？mmol/L (normal <2.73？mmol/L); total calcium, 6？mmol/L). Ionized serum calcium ranged between 1.85 and 2.05？mmol/L (normal <1.23？mmol/L), and serum phosphate was as low at 0.42？mmol/L (normal >1.45？mmol/L). Serum alkaline phosphatase activity was high (518？IU/L; normal <420？IU/L). Both serum creatinine and urea were high at 133？umol/L (35？:？53？umol/L0) and 38？mmol/L (1.4？:？5？mmol/L), respectively. Serum electrolytes (sodium 160？mmol/L; potassium 3.0？mmol/L; chloride 126？mmol/L; and bicarbonate 21？mmol/L), all compatible with dehydration and prerenal failure. The clinical diagnosis of NSHPT was based on the early onset, life-threatening hypercalcemia, and the radiologic evidence of hyperparathyroidism. On the second day of admission, the parathyroid hormone level was 573？ng/L (normal, 15–65？ng/L). The urine calcium/creatinine index (both measured in millimoles) was 8.3 (normal <0.4). The serum