Bone mineral density in children and adolescents with neurofibromatosis type 1

J Pediatr. 2007 Jan;150(1):83-8. doi: 10.1016/j.jpeds.2006.10.048.


Objective: To assess whether children and adolescents with neurofibromatosis type 1 (NF1) have decreased bone mineral density (BMD).

Study design: Bone densitometry of the whole body, hip, and lumbar spine was used in a case-to-control design (84 individuals with NF1: 293 healthy individuals without NF1). Subjects were 5 to 18 years old. Subjects with NF1 were compared with control subjects by using an analysis-of-covariance with a fixed set of covariates (age, weight, height, Tanner stage, and sex).

Results: Subjects with NF1 had decreased areal BMD (aBMD) of the hip (P <.0001), femoral neck (P <.0001), lumbar spine (P = .0025), and whole body subtotal (P <.0001). When subjects with NF1 were separated in groups with and without a skeletal abnormality, those who did not have a skeletal abnormality still had statistically significant decreases in aBMD compared with control subjects (P <.0001 for whole body subtotal aBMD), although they were less pronounced than in those with osseous abnormalities.

Conclusions: These data suggest that individuals with NF1 have a unique generalized skeletal dysplasia, predisposing them to localized osseous defects. Dual energy x-ray absorptiometry may prove useful in identifying individuals with NF1 who are at risk for clinical osseous complications and monitoring therapeutic trials.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Absorptiometry, Photon
  • Adolescent
  • Age Factors
  • Bone Density / physiology*
  • Child
  • Child, Preschool
  • Disease Progression
  • Female
  • Hip / diagnostic imaging
  • Humans
  • Lumbar Vertebrae / diagnostic imaging
  • Male
  • Neurofibromatosis 1 / diagnostic imaging
  • Neurofibromatosis 1 / metabolism*
  • Prognosis
  • Severity of Illness Index
  • Sex Factors