CASE REPORTS   

Minerva Endocrinologica 2012 September;37(3):283-9

Copyright © 2012 EDIZIONI MINERVA MEDICA

language: English

Two-year cyclic infusion of pamidronate improves bone mass density and eliminates risk of fractures in a girl with osteoporosis due to Hajdu-Cheney Syndrome

Galli-Tsinopoulou A. ¹, Kyrgios I. ¹, Giza S. ¹, Giannopoulou E. Z. ¹, Maggana I. ¹, Laliotis N. ² ✉

¹ .4th Department of Pediatrics, Faculty of Medicine, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Greece; ² .3rd Department of Orthopedics, Faculty of Medicine, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Greece

Hajdu-Cheney syndrome (HCS) is a rare disorder principally characterized by acro-osteolysis, distinctive craniofacial and skull changes, dental anomalies and short stature. A common finding in HCS patients is secondary osteoporosis that progresses over time and contributes to various skeletal problems, especially fractures. Although autosomal dominant inheritance has been documented in several families, sporadic (non-familial) cases have also been reported. Here, a case of a 9-year-old girl with familial HCS and multiple spinal fractures, who has been effectively treated with pamidronate, is presented. This is the first report of a beneficial effect of intravenous bisphosphonate administration on a child with HCS-related osteoporosis.