Primary hyperparathyroidism in a child with tuberoussclerosis

Primary hyperparathyroidism in patients with tuberous sclerosis (TS) is extremely rare: only three cases have been reported previously, two of them in pediatric patients. An 11-year-old male patient with a clinical and molecular diagnosis of TS presented with mild symptomatic hypercalcemia in routine laboratory tests. Biochemical evaluation confirmed hypercalcemia with hypophosphatemia and inadequate parathyroid hormone levels, with radiological signs of hyperparathyroidism. Ultrasound demostrated hyperplasia of the left superior parathyroid gland, and a sestamibi and technetium-99m scintigram showed hyperfunctioning parathyroid tissue in both superior parathyroid glands. Patient underwent surgical excision of the affected parathyroid glands He presented with transient postoperative hypoparathyroidism. Although the presentation of hyperparathyroidism in TS is infrequent, we recommend evaluating symptoms associated with hypercalcemia and eventually obtaining serum calcium and phophorus measurements early diagnosis and timely treatment may prevent renal and bone complications.