We present a 21 year-old @entity1 with @entity36367 ( @entity36367 ) suffering from @entity158 and frequent long bone @entity174 (approximately 1 or 2 @entity174 /year) who was treated with i.v. @entity5279 for 3 years. @entity36367 is a rare @entity74 characterized by severe widespread @entity170 leading to pathological @entity174 and @entity11103 . @entity79 ( @entity79 ) (g/cm2) was determined at lumbar spine and femur neck by dual energy X-ray absorptiometry. @entity79 studies were also performed in her parents and 18 year-old brother who were phenotypically normal. Within 2 months of the first @entity5279 treatment the @entity1 reported considerable decrease in @entity158 and improved mobility. During the treatment period no important side effects and no recurrent @entity174 were reported. There were substantial increases in @entity79 , T score and z-score at both lumbar spine and femoral neck during therapy. Baseline lumbar spine @entity79 increased from 0.416 to 0.489 g/cm2 and femoral neck @entity79 increased from 0.455 to 0.532 g/cm2 after 3 years. Although her parents and brother did not have any history of @entity174 , @entity79 measurements revealed that her parents were @entity6092 and her brother was osteoporotic. We demonstrated that @entity5279 therapy seems to be safe and beneficial in both @entity1897 in @entity1 with @entity36367 . 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 @entity1 with @entity36367 .

Effects of 3 years of intravenous @entity5279 treatment on bone markers and bone mineral density in a XXXX with @entity36367 ( @entity36367 ).

@entity1 :: ('9606', 'Species') :: ['woman', 'patients', 'patient'] @entity5279 :: ('MESH:C019248', 'Chemical') :: ['pamidronate'] @entity174 :: ('MESH:D050723', 'Disease') :: ['fractures', 'fracture', 'bone fracture'] @entity36367 :: ('MESH:C536063', 'Disease') :: ['osteoporosis-pseudoglioma syndrome', 'OPPG'] @entity170 :: ('MESH:D010024', 'Disease') :: ['osteoporosis'] @entity11103 :: ('MESH:C536600', 'Disease') :: ['congenital or early onset blindness'] @entity79 :: ('MESH:D001847', 'Disease') :: ['Bone mineral density', 'BMD'] @entity1897 :: ('MESH:D010523', 'Disease') :: ['spinal and peripheral skeleton osteoporosis'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal recessive disorder'] @entity158 :: ('MESH:D010146', 'Disease') :: ['bone pain'] @entity6092 :: ('MESH:C567172', 'Disease') :: ['osteopenic']
@entity1 :: (9606,Species) :: ['patient']
