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Bone microarchitecture in Rett syndrome and treatment with teriparatide: a case report

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Abstract

Summary

We present the case of a 28-year-old female Rett syndrome patient with low bone mass and a recent fracture who was successfully treated with teriparatide. Bone mineral density and microarchitecture substantially improved after treatment. Rett syndrome (RTT), an X-linked progressive neuro-developmental disorder caused by mutations in the methyl-CpG-binding 2 (MECP2) gene, has been consistently associated with low bone mass. Consequently, patients with RTT are at increased risk of skeletal fractures. Teriparatide is a bone-forming agent for the treatment of osteoporosis that has demonstrated its effectiveness in increasing bone strength and reducing the risk of fractures in postmenopausal women, but, recently, its positive action has also been reported in premenopausal women. We present the case of a 28-year-old female RTT patient with low bone mass and a recent fracture who was successfully treated with teriparatide. Both bone mass measured by DXA and microarchitecture assessed by high resolution peripheral computed tomography (HR pQCT) were substantially improved after treatment.

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Fig. 1

Abbreviations

RTT:

Rett syndrome

MECP2:

methyl-CpG-binding 2

HR-pQCT:

high resolution peripheral computarized tomography

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Acknowledgments

The authors would like to thank the child and her family for allowing us to use the medical documentation and information that led to the present article.

We thank Susana Carballo for editing the English language of the manuscript.

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Authors and Affiliations

  1. IDIM, Instituto de Diagnóstico e Investigaciones Metabólicas, Cátedra de Osteología y Metabolismo Mineral, Facultad de Medicina, Universidad del Salvador, Libertad 836, 1st Floor, 1012, Buenos Aires, Argentina

    M. B. Zanchetta, M. F. Scioscia & J. R. Zanchetta

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  1. M. B. Zanchetta
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  2. M. F. Scioscia
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  3. J. R. Zanchetta
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Correspondence to M. B. Zanchetta.

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Zanchetta, M.B., Scioscia, M.F. & Zanchetta, J.R. Bone microarchitecture in Rett syndrome and treatment with teriparatide: a case report. Osteoporos Int 27, 2873–2877 (2016). https://doi.org/10.1007/s00198-016-3586-7

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  • DOI: https://doi.org/10.1007/s00198-016-3586-7

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