Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG)

Osteoporos Int. 2017 Nov;28(11):3277-3280. doi: 10.1007/s00198-017-4214-x. Epub 2017 Sep 2.

Abstract

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive syndrome characterized by juvenile-onset osteoporosis and ocular abnormalities due to a low-density lipoprotein receptor-related protein 5 (LRP5) gene mutation. Treatment with bisphosphonates, particularly with pamidronate and risedronate, has been reported to be of some efficacy in this condition. We report on a patient with OPPG due to an LRP5 gene mutation, who showed an encouraging response after a 36-month period of neridronate therapy. We report a case of a patient treated with bisphosphonates. Bisphosphonates should be administered in OPPG patients as a first-line therapy during early childhood.

Keywords: Bisphosphonate; Bone; LRP5; OPPG; Osteoporosis-pseudoglioma; Osteoporosis-pseudoglioma syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bone Density Conservation Agents / therapeutic use*
  • Diphosphonates / therapeutic use*
  • Humans
  • Low Density Lipoprotein Receptor-Related Protein-5 / genetics
  • Male
  • Mutation
  • Osteogenesis Imperfecta / complications
  • Osteogenesis Imperfecta / diagnostic imaging
  • Osteogenesis Imperfecta / drug therapy*
  • Osteogenesis Imperfecta / genetics
  • Osteoporotic Fractures / diagnostic imaging
  • Osteoporotic Fractures / etiology
  • Radiography
  • Spinal Fractures / diagnostic imaging
  • Spinal Fractures / etiology

Substances

  • Bone Density Conservation Agents
  • Diphosphonates
  • LRP5 protein, human
  • Low Density Lipoprotein Receptor-Related Protein-5
  • 6-amino-1-hydroxyhexane-1,1-diphosphonate

Supplementary concepts

  • Osteoporosis-pseudoglioma syndrome