PRIMARY HYPERPARATHYROIDISM IN CHILDREN - PATIENT REPORT AND REVIEW OF THE LITERATURE

Although primary hyperparathyroidism has rarely been described in pedi atric patients, prompt diagnosis can avoid severe CNS and metabolic co nsequences, The aim of this paper is to report a 6 year-old girl whose first symptoms began at eight days of age with cyanosis, hypotonia, a nd upward gaze deviation, At 4 months, she was admitted due to neurolo gic disorders and recurrent infection, but the definite diagnosis was made only six years later, Her serum calcium levels are among the high est ever reported in the medical literature, reaching 25.5 mg/dl (6.36 mmol/l), Hypercalcemia, very high levels of parathormone (1550 ng/l - normal range 10-65) and bone deformities posed no problem to diagnosi s when she first came to our attention, Nephrocalcinosis and impaired renal function were detected and this child had to be treated with diu retics (furosemide) and hydration that were able to lower her serum ca lcium levels, Imaging studies including Tc-99m-sestamibi scan were not diagnostic, At surgery, the four parathyroid glands were mildly enlar ged, with primary hyperplasia, The four glands were removed, cryoprese rved, and 14 fragments (1 mm each) were autotransplanted to the braqui oradial muscle of the left forearm, After a first phase of hypocalcemi a (hungry-bone syndrome), treated with calcium and calcitriol, the cal cium levels stabilized, The question is whether she will experience so me degree of recovery from her neurological problems, since her severe ly high calcium levels have been maintained for such a long time.