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<p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月10日

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

摘要

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.