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Neonatal Severe Primary Hyperparathyroidism: A Series of Four Cases and their Long-term Management in India
Dhalapathy Sadacharan1, Shriraam Mahadevan2, Smitha S Rao1
1Department of Endocrine Surgery, Rajiv Gandhi Govt. General Hospital, Madras Medical College, Porur, Chennai, India.
Insights
Neonatal severe primary hyperparathyroidism (NSPHPT) is a rare disorder requiring prompt medical management and surgery. This case series highlights successful surgical and medical interventions for infants with this life-threatening condition.
Area of Science:
- Endocrinology
- Genetics
- Pediatric Surgery
Background:
- Neonatal severe primary hyperparathyroidism (NSPHPT) is an extremely rare autosomal recessive disorder.
- Infants present with severe, life-threatening hypercalcemia, necessitating prompt medical management and surgical intervention.
Purpose of the Study:
- To report on the management of four newborns diagnosed with NSPHPT over a 10-year period.
- To highlight the utility of long-term medical management, surgery, and genetic testing in NSPHPT.
Main Methods:
- Retrospective study of demographic, clinical, treatment, and follow-up data.
- Descriptive analysis of four infant cases.
- Review of literature on medical management, surgery, and genetic testing in NSPHPT.
Main Results:
- Four infants (3 male, 1 female) diagnosed at a mean age of 28.7 days with severe hypercalcemia (29.2+/-2.8 mg/dL) and elevated parathormone (PTH) (1963+/-270.4 pg/mL).
- All presented with failure to thrive, hypotonia, and respiratory distress. Medical management preceded total parathyroidectomy and thymectomy.
- Three infants had CaSR mutations; one is managed with cinacalcet post-operatively.
Conclusions:
- NSPHPT diagnosis requires high clinical acumen and emergency medical management to control calcium levels.
- Parathyroidectomy offers a cure for this lethal hypercalcemia once the infant is stable for surgery.
- Expertise in endocrinology, parathyroid embryology, and morphology is crucial for managing this genetic disorder.
Context:
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.
Aims:
We report four newborns with NSPHPT who were managed over 10 years.
Subjects And Methods:
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.
Statistical Analysis Used:
Descriptive Analysis.
Results:
We had three males and one female infant with a mean age of diagnosis at 28.7 days, calcium 29.2+/-2.8 mg/dL, and parathormone (PTH) 1963+/-270.4 pg/mL. All four 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 four cases. Three babies became hypocalcemic while the fourth infant had a drop in PTH and is on the tab. cinacalcet 30 mg/day. CaSR mutation was positive in three infants.
Conclusions:
Diagnosing NSPHPT needs expert clinical acumen. It requires emergency medical management to control calcium levels. The crisis may present later, necessitating parathyroidectomy in these cases once the child is fit for surgery. Surgery offers a cure for this unusual lethal hypercalcemia while the role of cinacalcet needs a special mention. Sound knowledge in endocrinology with parathyroid embryology and morphology is of paramount importance. Our case series might add a few insights into managing this unusual genetic disorder.
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