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Lambert, Anne-Sophie; Rothenbuhler, Anya; Charles, Perrine; Brailly-Tabard, Sylvie; Trabado, Séverine; Célestin, Elisabeth; Durand, Emmanuel; Fontaine, Isabelle; Miladi, Lotfi; Wicart, Philippe; Bahi-Buisson, Nadia; Linglart, Agnès
PloS one, 10/2017, Volume: 12, Issue: 10Journal Article
Classic Rett Syndrome (RS) is a disabling condition mainly caused by MECP2 mutations. Girls with RS are at risk of developing bone fragility and fractures at a young age which results in pain and may seriously impair quality of life. To retrospectively assess the safety and efficacy of IV bisphosphonates on fracture, bone mineral density (BMD) and bone markers in RS girls with bone fragility. RS girls received either IV pamidronate (n = 19) or IV zoledronate (n = 1) for 2 years. Of 20 patients studied (age: 12.5 years 6; 39), 14 were non-ambulatory. The incidence of fracture decreased from 37 fractures in 20 patients, to 1 fracture during or after treatment (follow-up: 3.1 years 1.5; 5). The spine BMD Z-score improved from -3.2 -5.6; -0.1 to -2.2 -3.8; 0.0, p = 0.0006. Most parents reported decreases in chronic pain and 2 patients started to walk. Urinary calcium excretion decreased from 0.7 0.18; 1.5 to 0.2 0.03; 0.67 mM/mM of creatinine (p = 0.0001). Pamidronate was well tolerated. RS girls should be screened for impaired bone mineralization and preventive measures should be taken. In girls experiencing fractures, IV bisphosphonates constitute a beneficial adjuvant treatment to diminish the risk of fracture and restore bone density.
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