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

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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.

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Authors and Affiliations

  1. Department of Pediatrics, “Sapienza” University of Rome, Viale Regina Elena, 324, 00324, Rome, Italy

    M. Celli, P. D’Eufemia, A. Turchetti, A. Febbo, Y. D’Alfonso, L. Celli & A. Zambrano

  2. Department of Anatomic Histologic Forensic and Locomotor Apparatus Sciences, “Sapienza” University of Rome, Viale Regina Elena, 324, 00324, Rome, Italy

    P. Persiani

Authors
  1. M. Celli
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  2. P. D’Eufemia
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  3. P. Persiani
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  4. A. Turchetti
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  5. A. Febbo
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  6. Y. D’Alfonso
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  7. L. Celli
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  8. A. Zambrano
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Correspondence to M. Celli.

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Celli, M., D’Eufemia, P., Persiani, P. et al. Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG). Osteoporos Int 28, 3277–3280 (2017). https://doi.org/10.1007/s00198-017-4214-x

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  • DOI: https://doi.org/10.1007/s00198-017-4214-x

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