Abstract

Introduction/Background: Patients with Rett syndrome (RS) are at risk for low bone mineral density (BMD) and femoral fractures. In patients with RS, assessment with lateral distal femur (LDF) dual-energy X-ray absorptiometry (DXA) is recommended and clinically relevant. This study is the first to assess LDF BMD in girls with RS, and to compare LDF BMD results with lumbar spine BMD results in RS. Method Eleven girls (mean age 8.4 yr) with molecularly diagnosed RS and clinical DXA scan(s) were identified; medical charts were retrospectively reviewed. Baseline and serial lumbar spine and LDF BMD Z-scores were evaluated based on patients’ ambulation status, presence of epilepsy, and mutation type. Results At the time of first scan, 8 of 11 patients had normal lumbar spine BMD and low LDF BMD Z-scores. Two patients had fracture history. Fully ambulatory (3) patients had higher lumbar spine and LDF BMD than partially (5) and nonambulatory (3) patients. Patients with epilepsy had lower average BMD at all sites. No difference was seen in lumbar spine or LDF BMD in patients with high-risk BMD mutations. Seven patients had serial DXA scans with an average observation of 5.1 yr (range 3.1 yr to 6.2 yr). Lumbar spine BMD over time was variable, while LDF bone mass accrual occurred at a lower rate than typically developing girls. Conclusion Females with RS exhibited lower BMD Z-scores at the LDF than at the lumbar spine. LDF and lumbar spine results were discordant. Ambulatory status and the presence of epilepsy were related to BMD. LDF BMD accrual deviated from normal as patients aged.

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