Co-existence of osteogenesis imperfecta and hyperparathyroidism?

Osteogenesis imperfecta (Ol) and hyperparathyroidism (HTP) are disorders af fecting the skeletal system and calcium metabolism not evidently related to one another. We report a case in which both Ol and HPT were present. Our f emale patient presented with hypercalcaemia (S-Ca2+ 1,59 mmol/l; normal ran ge 1.15-1.30) and 4-gland parathyroid hyperplasia at 30 years of age. Since her first year she had fractures, blue sclera, hyper-mobile joints, short stature (height 1.51 m, weight 49.5 kg) but normal hearing, and dentiogenes is imperfecta (tooth disease caused by defective formation of dentin) was a bsent. This patient bears many similarities with the 5 patients reported pr eviously but it is the only patient, to our knowledge, with Ol and early on set of HPT (30 year old female). We have found the Ol to be type 1. A minor improvement of the rate of bone turnover 10 months after parathyroidectomy indicates the HPT to be primary and suggests the Ol type 1 and pHPT to be two different calcium metabolic diseases incidentally occurring in the same patient. (C) 1999, Editrice Kurtis.