Abstract
The frequent occurrence of osteoporosis in Rett syndrome raises questions about the
etiology of this finding. It is unknown whether there is any relationship between
low bone mass and the underlying genetic disorder. We recently had an opportunity
to study the status of bone remodeling by quantitative bone histomorphometry in three
girls ages 9.75, 13.5, and 14 years, with typical Rett syndrome who required scoliosis
surgery.
Anterior iliac crest bone biopsies were performed 1–2 days after double labeling of
the bone surfaces with tetracycline. Samples were processed for plastic embedding,
sectioned, stained, and histomorphometry performed in the cancellous bone. The same
observer performed all measurements. Bone volume was reduced, surface parameters of
formation (osteoid surface) were normal while parameters of resorption (osteoclast
surface and number) were decreased. The rate of bone formation was reduced in the
first two girls but could not be measured in the third girl due to lack of double
labeling. It may be that the slow rate of bone formation seen in each age group impedes
the development and accumulation of peak bone mass and contributes to the decreased
bone volume associated with Rett syndrome, although the data is limited.
This is the first report to document decreased bone volume determined by quantitative
bone histomorphometry in patients with Rett syndrome. With the recent identification
of MECP2 mutations in Rett syndrome it is quite likely that genetic factors not only
play a major role in brain development but may also influence other organ growth including
bone formation.
Keywords
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© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
