Work

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

Year: 2025

Type: article

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.

Source: The Egyptian Journal of Radiology and Nuclear Medicine

DOI: 10.1186/s43055-025-01598-8

Authors: Pooja Aggarwal, Megha Jain, M Sarthak Swarup, Reeta Kanaujiya, Shefali Gupta, Charu Paruthi

Institutions: Safdarjang Hospital, Vardhman Mahavir Medical College & Safdarjung Hospital

Language: English

Topic: Neurofibromatosis and Schwannoma Cases

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4415018709

FWCI:

Cites: 18

Cited by:

Related to: