Child Neurology Society's Brainstorm CNS Brainstorm Episode 47 "Neurofibromatosis Type 1 or NF1" with guest Kathryn Xixis, MD and guest host Jeffrey Strelzik, MD
Nov 21, 2025
Join Jeffrey Strelzik, an expert in child neurology, as he dives into the complexities of neurofibromatosis type 1 (NF1). The discussion covers the genetics behind NF1 and the critical role of tumor suppressors. Strelzik outlines the latest diagnostic criteria and emphasizes the benefits of multidisciplinary care. He also addresses the range of potential complications, from neurologic issues to skin concerns. Lastly, the talk explores treatment options, including the use of MEK inhibitors for managing inoperable neurofibromas.
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FASI Are Common Benign MRI Findings
- Focal areas of signal intensity (FASI) on pediatric MRI are common in NF1 and are not tumors.
- They often fade with age and are not part of the diagnostic criteria despite being suggestive.
Use A Medical Home For Care Coordination
- Provide a medical home or multidisciplinary clinic to coordinate NF1 surveillance and catch missed care tasks.
- Review surveillance checklists at each visit to identify gaps like overdue imaging or eye exams.
Screen Neurodevelopment And Mood Regularly
- Routinely screen NF1 patients for headaches, seizures, learning difficulties, ADHD, and mood concerns.
- Ask about hypotonia and consider different risk stratification for seizures/headaches in NF1 patients.