Neonatal Severe Hyperparathyroidism due to Compound Heterozygous Mutation of Calcium Sensing Receptor (CaSR) Gene Presenting as Encephalopathy

Kulkarni, Abhishek; Mohite, Mahesh; Vijaykumar, Ramaa; Bansode, Prasanna; Murade, Sachin; Tamhankar, Parag M

doi:10.1007/s12098-014-1442-3

Cited by 5 publications

(1 citation statement)

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“…showed that the neonates presented in the first month of life, one treated medically and the other maintained on medical management after failed surgery, suggesting a role for prolonged medical management. [ 16 17 ]…”

Section: Discussionmentioning

confidence: 99%

Neonatal severe primary hyperparathyroidism: A series of four cases and their long-term management in India

Sadacharan

Mahadevan

Rao

et al. 2020

Indian J Endocr Metab

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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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Section: Discussionmentioning

confidence: 99%