Endocrine Abstracts

This gentleman originally presented at the age of 60 years old with slurred speech, confusion and cerebellar signs and was found to have raised calcium and PTH. His sisters, son and daughter were known to have hyperparathyroid-jaw tumour syndrome (HPT-JT) due to a novel germline Leu63Pro missense mutation in CDC73 exon 2. An MRI brain identified cerebellar lesions and he had positive voltage gated potassium channels; both of indeterminate aetiology following several neurology reviews. There was no evidence of malignancy or lymphadenopathy. He had a right inferior parathyroidectomy and had been normocalcaemic since the operation. His cerebellar symptoms improved.

Two years later he presented with recurrent, acute hypercalcaemia and acute kidney injury following a loading dose of Vitamin D3 (40000 units), with calcium levels of 3.71 mmol/L and suppressed PTH of

He was found to have an elevated serum ACE of 88.8 u/L and with raised IgG (25.5 g/L) and IgA (7.71 g/L). CT showed extensive lymphadenopathy, splenomegaly and lung changes. There was no evidence of parathyroid tumour recurrence. Biopsy of these lymph nodes showed granulomatous inflammation. This suggested sarcoidosis was the cause of hypercalcaemia. 1,25 di-hydroxyvitamin D3 levels were elevated. He was treated with intravenous fluids, bisphosphonates and then prednisolone, when the diagnosis was confirmed. His calcium levels are now stable just above the upper limit of normal.

This is an unusual case of a gentleman with hyperparathyroid-jaw tumour syndrome, associated cerebellar lesions and concurrent sarcoidosis. Although there have been some reports in the literature of hyperparathyroidism and sarcoidosis presenting concurrently, this is the first reported case of sarcoidosis associated with hyperparathyroid-jaw tumour syndrome.