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Archives of Osteoporosis

, 13:93 | Cite as

Progressive bone impairment with age and pubertal development in neurofibromatosis type I

  • Giulia Rodari
  • G. Scuvera
  • F. M. Ulivieri
  • E. Profka
  • F. Menni
  • V. Saletti
  • S. Esposito
  • S. Bergamaschi
  • E. Ferrante
  • C. Eller-Vainicher
  • S. Esposito
  • M. Arosio
  • C. Giavoli
Original Article

Abstract

Summary

Bone density impairment represents an established complication in adults with neurofibromatosis type 1, while few data exist in the pediatric population. Age- and gender-adjusted bone mass decreases with age and pubertal development, identifying childhood as the best time frame to introduce prevention strategies aiming at peak bone mass achievement.

Purpose

The present study aims at evaluating bone mineral density (BMD) in a population of children with neurofibromatosis type I (NF-1), with particular focus on changes occurring during growth and pubertal development.

Methods

Bone metabolic markers and bone status [by dual-energy X-ray absorptiometry scans (DXA) of the total body and lumbar spine with morphometric analysis] were assessed in 50 children (33 males; mean age ± SD, 11.6 ± 4 years). Bone mineral apparent density (BMAD), trabecular bone score (TBS), and bone strain (BS) of the lumbar spine (LS) DXA were also obtained.

Results

In our cohort areal BMD (aBMD) Z-score was below the mean in 88% of the patients at LS (70% after correction for bone size) and in 86% considering total body (TB) DXA. However, aBMD Z-score was < − 2 in 12% after correction for bone size at LS and TB, respectively. Lumbar spine aBMD Z-score (r = − 0.54, P < 0.0001), LS BMAD Z-score (r = − 0.53, P < 0.0001), and TB Z-score (r = − 0.39, P = 0.005) showed a negative correlation with growth and pubertal development (P = 0.007, P = 0.02, P = 0.01, respectively), suggesting that patients failed to gain as much as expected for age.

Conclusion

Bone density impairment becomes more evident with growth and pubertal development in NF-1 patients, thus identifying childhood as the best time frame to introduce prevention strategies aiming at peak bone mass achievement. TBS and BS, providing bone DXA qualitative information, could be useful during longitudinal follow-up for better characterizing bone impairment in these patients.

Keywords

Bone mineral density Neurofibromatosis type 1 Peak bone mass Pubertal development Pediatrics Trabecular bone score Bone strain 

Notes

Compliance with ethical standards

Conflicts of interest

None.

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Copyright information

© International Osteoporosis Foundation and National Osteoporosis Foundation 2018

Authors and Affiliations

  • Giulia Rodari
    • 1
  • G. Scuvera
    • 2
  • F. M. Ulivieri
    • 3
  • E. Profka
    • 1
  • F. Menni
    • 2
  • V. Saletti
    • 4
  • S. Esposito
    • 4
  • S. Bergamaschi
    • 1
  • E. Ferrante
    • 1
  • C. Eller-Vainicher
    • 1
  • S. Esposito
    • 5
  • M. Arosio
    • 1
  • C. Giavoli
    • 1
  1. 1.Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; Department of Clinical Sciences and Community HealthUniversity of MilanMilanItaly
  2. 2.Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoUniversity of MilanMilanItaly
  3. 3.Bone Metabolic Unit, Division of Nuclear MedicineFondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoMilanItaly
  4. 4.Developmental Neurology UnitFondazione IRCCS Istituto Neurologico Carlo BestaMilanItaly
  5. 5.Pediatric Clinic, Department of Surgical and Biomedical SciencesUniversità degli Studi di PerugiaPerugiaItaly

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