Bone Microarchitecture in Rett Syndrome and Treatment with Teriparatide: a Case Report

Overview

Journal Osteoporos Int

Specialties Endocrinology
Orthopedics

Date 2016 Apr 13

PMID 27068223

Citations 5

Authors

M B Zanchetta

M F Scioscia

J R Zanchetta

Affiliations

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Abstract

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.

Citing Articles

The Management of Bone Defects in Rett Syndrome.

Caffarelli C, Gonnelli S Calcif Tissue Int. 2025; 116(1):11.

PMID: 39751871 DOI: 10.1007/s00223-024-01322-0.

Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies.

Caffarelli C, Al Refaie A, Mondillo C, De Vita M, Baldassini L, Valacchi G Children (Basel). 2023; 10(12).

PMID: 38136063 PMC: 10741854. DOI: 10.3390/children10121861.

Altered Bone Status in Rett Syndrome.

Pecorelli A, Cordone V, Schiavone M, Caffarelli C, Cervellati C, Cerbone G Life (Basel). 2021; 11(6).

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Bone fragility in patients affected by congenital diseases non skeletal in origin.

Masi L, Ferrari S, Javaid M, Papapoulos S, Pierroz D, Brandi M Orphanet J Rare Dis. 2021; 16(1):11.

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The comparability of HR-pQCT bone measurements is improved by scanning anatomically standardized regions.

Bonaretti S, Majumdar S, Lang T, Khosla S, Burghardt A Osteoporos Int. 2017; 28(7):2115-2128.

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