Brain morphometric analysis in neurofibromatosis 1

Arch Neurol. 1999 Nov;56(11):1343-6. doi: 10.1001/archneur.56.11.1343.


Rationale and objectives: To investigate the relationships between brain and skull base growth in patients with neurofibromatosis 1 (NF1) compared with healthy control subjects using brain magnetic resonance imaging (MRI) for morphometric analysis.

Methods: Evaluated patients included children who underwent T1- and T2-weighted or dual-echo proton density axial and T1-weighted sagittal brain MRI from January 1, 1988, to December 31, 1995. Study subjects (n = 27) received a diagnosis of NF1 by accepted National Institutes of Health clinical criteria and were compared with an age- and sex-matched control group (n = 43). Twenty-four predetermined ventricular and brain parenchymal dimensions and area calculations were evaluated. Data were analyzed using 2-tailed t tests, chi2 analysis, analysis of variance, and analysis of covariance adjusted for age and sex. Correlational analyses with respect to subject type and age were performed separately.

Results: There were 27 patients (20 boys, aged 1.0-17.7 years; mean age, 8.8 years) and 43 controls (22 boys, aged 0.1-17.7 years; mean age, 5.9 years). The mean ages between groups (boys, girls, and totals) were not statistically different. Significant differences were appreciated for 6 of 24 measures. Patients with NF1 had a significantly larger bicaudate width (P = .002), biatrial width (P<.001), and biparietal diameter (P = .003), but not hemispheric length. They also had significantly increased iter measures (P = .004), descending sigmoid sinus (P<.001), and an age-specific increase in brainstem height (P = .03) not seen in controls.

Conclusions: Patients with NF1 experience dynamic changes in brain morphometry, resulting in a predominant lateral volume expansion of the supratentorial compartment and an increasing velocity of brainstem growth as they age. These data underscore brain-region-specific parenchymal overgrowth potential.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Brain / abnormalities*
  • Brain / pathology*
  • Child
  • Child, Preschool
  • Cognition Disorders / diagnosis
  • Cognition Disorders / etiology
  • Female
  • Gene Expression / genetics
  • Genes, Neurofibromatosis 1 / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Myelin Sheath / pathology
  • Neurofibromatosis 1 / complications
  • Neurofibromatosis 1 / genetics
  • Neurofibromatosis 1 / pathology*
  • Neurons / pathology
  • Neuropsychological Tests
  • Retrospective Studies