Neonatal Severe Primary Hyperparathyroidism-Presentation, Management, and Follow-up of Seven Cases

Neonatal severe primary hyperparathyroidism (NSPHPT) is an extremely rare autosomal recessive disorder, requiring a high index of suspicion. Infants affected with this disorder present with severe life-threatening hypercalcemia early in life, requiring adequate preoperative medical management followed by surgery. We report seven newborns with neonatal severe primary hyperparathyroidism (NSPHPT) who were managed over 12 twelve years. Demography, clinical presentation, treatment, and follow-up data were retrospectively studied with descriptive analysis to highlight the utility of long-term medical management, surgery, and genetic testing reported in the literature. The statistical analysis used was descriptive analysis. We had six baby boys and one baby girl infant with a mean age of diagnosis at 50.42 days, calcium 23.32 +/- 6.9 mg/dl, and parathormone (PTH) 1072 +/- 1440 pg/ml. All seven infants presented with failure to thrive, hypotonia, and respiratory distress. All infants were treated medically followed by total parathyroidectomy plus transcervical thymectomy, with an additional hemithyroidectomy in one of them. Imaging was negative in all seven cases. Six babies became hypocalcemic while the fourth infant had a drop in PTH and is on tab. cinacalcet 30 mg/day. CASR mutation was positive in six infants. Our article on NSPHPT reiterates the importance of early diagnosis and referral for definitive management. Follow-up of these cases highlights the importance of complete surgery at presentation and lifelong compliance for calcium and vitamin D supplementation. The role of preoperative medical management also is of utmost importance, to make the surgery successful. Parental counseling for neonatal surgery poses a real challenge. Surgery offers a cure for this unusual lethal hypercalcemia, presenting with crisis. We want to reemphasize the need for early intervention in the form of definitive surgery-total parathyroidectomy and thymectomy with no autotransplantation. Thymectomy ensures the removal of all parathyroids though our series had no evidence of ectopia in the thymus.