Atlas-based Multi-Parametric Quantitative Brain MRI Analysis of Children with Neurofibromatosis Type 1
Allison K Duh1, Lydia T Tam2, Linda Liverani3
1Department of Neurosurgery, Stanford University School of Medicine, Palo Alto, United States.
Clinical Neuroradiology
|June 15, 2026
Summary
Neurofibromatosis type 1 (NF1) in children is linked to larger brain volumes, altered water diffusion, and reduced blood flow. These MRI findings may help identify risks for cognitive issues and strokes in NF1 patients.
Area of Science:
- Neuroimaging
- Pediatric Neurology
- Genetics
Background:
- Neurofibromatosis type 1 (NF1) is a genetic disorder affecting multiple body systems.
- NF1 can lead to neurological complications including macrocephaly, cognitive deficits, and stroke.
- Quantitative brain MRI analysis can reveal structural and physiological alterations in NF1.
Purpose of the Study:
- To quantitatively assess brain structure and physiology in children with NF1 using an atlas-based MRI approach.
- To compare brain imaging metrics between children with NF1 and typically developing controls.
Main Methods:
- Retrospective review of 34 children with NF1 evaluated over 9 years.
- Exclusion of patients with intracranial tumors or prior strokes.
- Acquisition of 3T MRI data including diffusion-weighted imaging (DWI) and arterial spin labeling (ASL) for quantitative analysis of regional brain volumes, apparent diffusion coefficient (ADC), and cerebral blood flow (CBF).
Main Results:
- Children with NF1 showed significantly increased brain volumes across all measured regions compared to controls.
- Significantly higher median ADC values were observed in most brain structures of NF1 patients.
- Significantly lower median cerebral blood flow (CBF) was detected in multiple brain regions, particularly white matter, in children with NF1.
Conclusions:
- This study identified distinct microstructural and physiological brain changes in children with NF1.
- Atlas-based quantitative MRI metrics may serve as potential biomarkers for neural development and cognitive dysfunction in NF1.
- Further research is needed to understand the cellular basis of these observed brain alterations and their link to vasculopathy-related stroke risk.
