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.

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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
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article

Uncommon craniofacial manifestations of neurofibromatosis type 1: insights from magnetic resonance imaging

Charu Paruthi, M. Sarthak Swarup, Reeta Kanaujiya, Pooja Aggarwal et al.
The Egyptian Journal of Radiology and Nuclear Medicine
Neurofibromatosis and Schwannoma Cases
article

Uncommon craniofacial manifestations of neurofibromatosis type 1: insights from magnetic resonance imaging

Charu Paruthi, M. Sarthak Swarup, Reeta Kanaujiya, Pooja Aggarwal, Megha Jain, Shefali Gupta
article en

Abstract

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.

The Egyptian Journal of Radiology and Nuclear MedicineVol. 56(1)
Vardhman Mahavir Medical College & Safdarjung Hospital (IN)
Openalex Percentile: Top 59%
Neurofibromatosis and Schwannoma Cases
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