Uncommon craniofacial manifestations of neurofibromatosis type 1: insights from magnetic resonance imaging
Abstract Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurocutaneous syndrome characterized by diverse multisystem manifestations, including central nervous system (CNS) and craniofacial involvement. While typical features are well documented, rare and atypical presentations remain undiagnosed. This case series presents four NF1 cases demonstrating uncommon craniofacial manifestations on magnetic resonance imaging (MRI), including leptomeningeal angiomatosis—a novel association not previously described in NF1, corpus callosum glioma, large hemorrhage within plexiform neurofibroma, and the simultaneous occurrence of diffuse and plexiform neurofibromas on same side of the face.
Authors
- Charu Paruthi (ORCID: https://orcid.org/0000-0002-3818-8761)
- M. Sarthak Swarup (ORCID: https://orcid.org/0000-0002-4008-4646)
- Reeta Kanaujiya (ORCID: https://orcid.org/0000-0001-8414-5837)
- Pooja Aggarwal (ORCID: https://orcid.org/0009-0009-4851-2949)
- Megha Jain (ORCID: https://orcid.org/0000-0001-9360-4572)
- Shefali Gupta
Institutions
- Vardhman Mahavir Medical College & Safdarjung Hospital (IN)
Publication Details
- Journal
- The Egyptian Journal of Radiology and Nuclear Medicine
- Published
- 2025-10-10
- DOI
- https://doi.org/10.1186/s43055-025-01598-8
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00