Peer-reviewed article
NFB-04. EXAMINING DIFFUSION, ARTERIAL SPIN-LABELED PERFUSION, AND VOLUMETRIC CHANGES IN THE NEUROFIBROMATOSIS TYPE 1 BRAIN USING AN ATLAS-BASED, MULTI-PARAMETRIC APPROACH
Tam L, Ng N, Moon P, Zheng J, McKenna E et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This is a medical research study examining brain imaging findings in children with neurofibromatosis type 1 (NF1), a genetic disorder. The researchers used advanced MRI techniques to measure structural and blood flow changes in different brain regions of 78 children with NF1 compared to 100 healthy controls. The study found increased brain volume and decreased blood flow in most brain regions of children with NF1. The findings suggest MRI measurements could help identify biological markers of neural development and cognitive problems in this population.
Key points
- Increased volume in white matter and most cortical and subcortical brain structures in NF1 children compared to controls
- Decreased cerebral blood flow detected across white matter and most brain regions except brainstem
- Increased apparent diffusion coefficient in thalamus, pallidum, hippocampus, and brainstem
- Study included 78 children with NF1 and 100 healthy controls evaluated from 2009-2018 at Stanford University
- Multi-parametric MRI signatures may serve as biomarkers for neural development and cognitive dysfunction in NF1
Limitations
This is a cross-sectional study comparing groups at one point in time, so it cannot establish how these brain changes develop over time or their direct relationship to cognitive or clinical outcomes. The study does not evaluate any intervention or examine causation.
Abstract
Abstract BACKGROUND Neurofibromatosis Type 1 (NF1) is a multisystem disorder with wide ranging clinical implications. Patients may present with macrocephaly, stroke, and cognitive deficits, all of which may impede normal neural development. We applied atlas-based, multi-parametric MRI analysis of regional brain to evaluate diffusion, arterial spin-labeled (ASL) perfusion, and volumetric changes in children with NF1. METHODS Children evaluated for NF1 from 2009 to 2018 at Stanford University (n=78) were retrospectively reviewed and compared to healthy controls (n=100). All patients underwent diffusion-weighted (DWI) magnetic resonance imaging at 3T, and children with brain tumors were excluded. Using atlas-based DWI analyses, we assessed volume, median apparent diffusion coefficient (ADC), and cerebral blood flow in the cerebral cortex, thalamus, caudate, putamen, globus pallidus, hippocampus, amygdala, nucleus accumbens, brain stem, and cerebral white matter. We also measured volume of the lateral ventricles. Multivariate analysis of covariance was used to test for differences between controls and NF1 patients, controlling for gender and age at time of imaging. RESULTS Comparing NF1 to controls, we detected increased volume and decreased ASL cerebral blood flow in white matter and all subcortical and cortical structures except for brainstem volume. Median ADC was also increased in the thalamus, pallidum, hippocampus, and brainstem. CONCLUSIONS Using a multi-parametric approach, we demonstrate quantitative measures of microstructural and physiologic changes of the NF1 brain. Atlas-based, quantitative MRI brain signatures may serve as biomarkers of neural development and further provide insight into associated cognitive dysfunction or risks for vasculopathy-related strokes in children with NF1.