Neonatal primary hyperparathyroidism: report of two clinical cases without bone lesions and literature review

ABSTRACT

Primary hyperparathyroidism is reported in two neonates from unrelated parents. Clinical signs became apparent during the first weeks of life and included severe respiratory distress, muscular hypotonia, failure to thrive and polyuria. Both patients had marked hypercalcemia, hypophosphatemia, increased plasma immunoreactive parathyroid hormone and increased fractional clearance of inorganic phosphate in the urine. Radiography revealed normal bone density without sign of hyperparathyroidism. Since they did not respond to medical therapy, a near total parathyroidectomy was performed at 2 months of age for the first case and at 1 month of age for the second. The characteristic pathologic changes of the glands were those of chief cell hyperplasia. Post-parathyroidectomy, both patients developed hypocalcemia which was controlled with vitamin D and calcium therapy