title: Teriparatide in the treatment of recurrent fractures in a Rett patient.
abstract: Rett syndrome is a common X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. Patients with Rett syndrome have a low bone mineral density and increased risk of fracture. The present case report describes a successful novel therapeutic intervention with teriparatide with one patient with Rett syndrome, after suffering from recurrent low-trauma fractures at intervals of several years. Because of the severity of bone involvement, the decision was made to treat with teriparatide and subsequently with intravenous bisphosphonate. Since the initiation of the treatment, there was an evident improvement at densitometric and QUS parameters. Furthermore, until the present, no new fractures have appeared. This is the first report in which teriparatide was administered to a subjects with Rett syndrome. In conclusion, this report has shown the effectiveness of teriparatide in the management of osteoporotic fractures in one subjects with Rett syndrome. This report provides evidence that increased knowledge of bone pathology and fracture prevention in Rett subjects is important and should be addressed in future studies.
authors.affiliation: Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Caffarelli
authors.affiliation: Child Neuropsychiatry Unit, University Hospital, "Azienda Ospedaliera Universitaria Senese", Siena, Italy.
authors.forename: Jussef
authors.initials: J
authors.lastname: Hayek
authors.affiliation: Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
authors.forename: Ranuccio
authors.initials: R
authors.lastname: Nuti
authors.affiliation: Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Gonnelli
keywords: Rett’s syndrome; bisphosphonates; bone mineral density; fractures; quantitative ultrasound; teriparatide
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