Abstract
Hypercalcemia (↑Ca) due to HPT in infancy is rare and its laboratory diagnosis difficult. We report a case with unusual features in which the assay of parathyroid hormone (iPTH) aided in the diagnosis and in the evaluation of the novel therapeutic technique of autotransplantation. An 18 mo old female was noted to have ↑Ca (16.7 mg/d1) and hypophosphatemia (2.5 mg/dl) during evaluation for retardation. She was the first child of 5th cousins, both of whom had asymptomatic ↑Ca (11.4 and 10.4 mg/dl) and ‘normal’ levels of iPTH (31 and 35 μ1 eq/m1). The infant's head circumference was small (44 cm) and skeletal films showed little evidence of increased bone resorption in spite of high serum iPTH (125 u1 eq/m1, normal, < 56). Treatment with dietary calcium restriction, saline, furosemide, phosphate, and calcitonin decreased serum calcium to 12 mg/d1; steroids did not influence the course. At surgery, 3 hyperplastic and one normal sized parathyroid glands were removed (140 mg, total wt). Portions of one gland were implanted into the brachial muscle. Normocalcemia was maintained by decreasing doses of Dihydrotachysterol postoperatiVely. This is the first known instance of HPT due to parathyroid hyperplasia in infancy in which both parents were affected with milder forms of the disease and, we believe, the youngest in whom the disease was treated by autotransplantation.
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Jason, C., Arnaud, S., Harrison, M. et al. 388 PRIMARY HYPERPARATHYROIDISM (HPT) IN INFANCY. Pediatr Res 15 (Suppl 4), 504 (1981). https://doi.org/10.1203/00006450-198104001-00399
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DOI: https://doi.org/10.1203/00006450-198104001-00399