We present a 21 year-old woman with
osteoporosis-pseudoglioma syndrome (OPPG) suffering from bone
pain and frequent long
bone fractures (approximately 1 or 2 fractures/year) who was treated with i.v.
pamidronate for 3 years. OPPG is a rare autosomal recessive disorder characterized by severe widespread
osteoporosis leading to
pathological fractures and congenital or early onset
blindness. Bone mineral density (BMD) (g/cm2) was determined at lumbar spine and femur neck by dual energy X-ray absorptiometry. BMD studies were also performed in her parents and 18 year-old brother who were phenotypically normal. Within 2 months of the first
pamidronate treatment the patient reported considerable decrease in bone
pain and improved mobility. During the treatment period no important side effects and no recurrent
bone fracture were reported. There were substantial increases in BMD, T score and z-score at both lumbar spine and femoral neck during
therapy. Baseline lumbar spine BMD increased from 0.416 to 0.489 g/cm2 and femoral neck BMD increased from 0.455 to 0.532 g/cm2 after 3 years. Although her parents and brother did not have any history of fracture, BMD measurements revealed that her parents were osteopenic and her brother was osteoporotic. We demonstrated that
pamidronate therapy seems to be safe and beneficial in both spinal and peripheral skeleton
osteoporosis in patients with OPPG. Moreover, the present study clearly indicates that bone density studies and LRPS gene screening for mutations should be performed in phenotypically normal family members of patients with OPPG.