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A Palpable Parathyroid Tumour in a Patient with Osteogenesis Imperfecta

J S, woman aged 52 History: Presented to Mr E A Devenish's orthopmedic clinic in August 1970 with ruptured left quadriceps tendon. Known to have mild osteogenesis imperfecta with six generation family history. Family history of thyroid disease. She had fractured her right arm at age 9 and a left tarsal bone at age 41. Referred for investigation of animia, known to be present since 1957, when it was discovered at ante-natal visits. Not elucidated at that time. Increasing thirst and polyuria for a few weeks. On examination: Blue scleree. Anmmic. No bony deformities. BP 180/1j1 mmHg. Thyroid moderately enlarged. Nodule 1 cm x 3 cm related to left lower pole. Investigations: Hb 8.4 g/100 ml, film mildly hypochromic, WBC 6000, normal differential. Platelets 227 000. ESR 60 mm in 1 hour (Westergren). Marrow mild excess of extracellular iron, no iron granules in normoblasts: suggestive of depressed erythropoiesis. Hb electrophoresis normal. Serum Fe and TIBC normal. Plasma calcium 6.6 mEq/l, P04 1.0 mEq/l, alkaline phosphatase 420 iu/l (n 20-110). Albumin and globulin normal. Urea 26 mg/100 ml, K 4.4 mEq/l, Cl i1 mEq/l, HCO3 16 mEq/l, PBI 5.8 pg/100 ml. ANF negative. Rheumatoid factor weak positive. Thyroid antibodies negative. Urine calcium 560 mg/24 h. MSUs, EMUs, hydroxymethyl mandelic acid and catecholamines normal. Barium meal and follow through, barium enema, IVP normal. X-rays of hands: cystic changes, skull: groundglass appearances, consistent with hyperparathyroidism. Femora: widening of medullary cavities of lower third, consistent with osteogenesis imperfecta. February 1971: Plasma calcium rose to 8.2 mEq/l, alkaline phosphatase to 550 iu/l, Plasma calcium failed to suppress on ten-day course of cortisone, 50 mg 3 times daily. Peripheral level of parathyroid hormone (Dr J L H O'Riordan): 14 ng/ml (N<1.0 ng/ml). Selective sampling from the venous system of the neck showed maximum concentrations opposite left upper pole of thyroid gland. Thyroid and parathyroid scanning supported the clinical impression that the palpable nodule might be the parathyroid tumour. March 1971: Benign parathyroid adenoma (15.1 g) removed from near left lower pole of the thyroid. Postoperatively plasma calcium fell to 2.7 mEq/l, alkaline phosphatase rose to 1025 iu/1. Treated with calcium and calciferol. Blood pressure fell to 140/90 mmHg. Plasma calcium, PO4, alkaline phosphatase have remained normal since. Hb has slowly risen to 11.8 g/100 ml.