EC Neurology

Review Article Volume 17 Issue 2 - 2025

Neurofibromatosis - A Practical Guide to Diagnosis and Management

Fernanda Romanini Lopes1, Fernanda De Souza Fontanelli1, Giovana Marques Esparza1, Samuel Alcântara De Amorim1, Carlos Eduardo Montalvão De Oliveira1 and Eliana Meire Melhado2*

1Acadêmicos do Centro Universitário Padre Albino, UNIFIPA - Centro Universitário Padre Albino, Catanduva, SP, Brazil 2PHD em Ciências da Saúde na Área de Neurologia Pela Unicamp, Docente de Neurologia E Semiologia do Centro Universitário Padre Albino, UNIFIPA - Centro Universitário Padre Albino, Catanduva, SP, Brazil

*Corresponding Author: Eliana Meire Melhado, PHD em Ciências da Saúde na Área de Neurologia Pela Unicamp, Docente de Neurologia E Semiologia do Centro Universitário Padre Albino, UNIFIPA - Centro Universitário Padre Albino, Catanduva, SP, Brazil.
Received: January 03, 2025; Published: February 05, 2025



Neurofibromatosis is an autosomal dominant genetic disorder that affects the nervous system and skin. There are two main types: neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 is more common and presents with neurofibromas, café-au-lait spots, freckles, and optic gliomas. NF2 is characterized by bilateral vestibular schwannomas, leading to hearing loss, and meningiomas. Segmental NF1 is a form in which the features are confined to a specific area of the body. Both types of neurofibromatosis are caused by specific genetic variations. Treatment involves clinical monitoring and medical intervention when necessary.

Review articles and textbooks are essential tools for educators and students; thus, it is important to have comprehensive and up-to-date information on this subject. Currently, there are no a lot of articles or books that focus exclusively on this topic, in many counties. This highlights the need for the development of a review article that comprehensively addresses neurofibromatosis. Additionally, since it affects the nervous system and requires proper diagnosis and management, qualified information is necessary. Adequate knowledge is crucial to ensure that patients have access to proper treatment by a neurologist.

 Keywords: Neurofibromatosis; Genetics; Clinical Presentation

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Eliana Meire Melhado., et al. “Neurofibromatosis - A Practical Guide to Diagnosis and Management”. EC Neurology  17.2 (2025): 01-12.

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