Indication of total parathyroidectomy for an Epstein syndrome patient with end-stage renal disease.

ABSTRACT

Epstein syndrome is an extremely rare genetic disorder characterized by the association of nephritis, deafness and megathrombocytopenia. We present the case of a 21-year-old patient diagnosed with Epstein syndrome and hyperparathyroidism secondary to chronic kidney disease. The main particularity of this case resides in the association between megathrombocytopenia and secondary hyperparathyroidism requiring surgery, which could lead to a series of concerns regarding the intra- and postoperative hemorrhagic risk of the procedure. Nevertheless, both the surgical procedure and the postoperative recovery were uneventful, suggesting that the lower threshold for preoperative thrombocyte count in megathrombocytopenia should be specifically considered on an individual case analysis.