Neurofibromatosis and Schwannomatosis: Diagnosis and Management

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Diagnosis and Prognosis".

Deadline for manuscript submissions: 31 March 2026 | Viewed by 279

Special Issue Editors


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Guest Editor
Department of Neuro-Oncology/Neurology, Erasmus MC Cancer Institute, 3015 GD Rotterdam, The Netherlands
Interests: neurofibromatosis type 1 (NF1); schwannomatosis (SWN); neurofibromas; schwannomas; malignant peripheral nerve sheath tumor (MPNST); gliomas; tumor management

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Guest Editor
Department of Plastic and Reconstructive Surgery, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands
Interests: neuro-oncology; peripheral nerve surgery; plastic and reconstructive surgery; surgical oncology
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Special Issue Information

Dear Colleagues, 

Neurofibromatosis (NF) and Schwannomatosis (SWN) are complex genetic disorders that present a range of complications that significantly impact patients' lives. Both conditions can lead to the development of multiple benign tumors along nerves, causing pain, neurological deficits, deformities, and an increased risk of malignant transformation. Additionally, neurofibromatosis type 1 (NF1)- and NF2-related Schwannomatosis are associated with an increased risk of developing intracranial and spinal tumors. Despite advances in research, the diagnosis and management of these conditions remain challenging. Common shortcomings include variability in clinical presentation, overlapping symptoms, limited treatment options, and a lack of comprehensive management guidelines. These shortcomings make it crucial to have comprehensive and multidisciplinary approaches to effectively diagnose and manage patients with these conditions and underscore the necessity for ongoing research and innovation in the field. We therefore invite you to contribute original research articles, case studies, and reviews that offer new insights, innovative diagnostic techniques, and novel management strategies to this Special Issue. We particularly encourage submissions focusing on preclinical studies and the development of cutting-edge methodologies, including omics approaches, that have the potential to improve our understanding of the pathophysiology and treatment of these conditions.

Dr. Walter Taal
Dr. Enrico Martin
Guest Editors

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Keywords

  • neurofibromatosis type 1 (NF1)
  • neurofibromatosis type 2 (NF2)
  • schwannomatosis (SWN)
  • neurofibromas
  • schwannomas
  • malignant peripheral nerve sheath tumor (MPNST)
  • glioma
  • tumor management
  • genetic counseling
  • quality of life (QoL)

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Published Papers (1 paper)

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Research

9 pages, 648 KB  
Article
Clinical Characteristics of Seizures and Course of Epilepsy in Children with Neurofibromatosis Type 1—A Tertiary Center Experience in a Cohort of 118 Children
by Ružica Kravljanac, Jovana Beđik, Irene Bruno, Biljana Vučetić Tadić, Sofija Popović, Vladimir Oparnica and Pavle Kravljanac
Diagnostics 2025, 15(21), 2690; https://doi.org/10.3390/diagnostics15212690 (registering DOI) - 24 Oct 2025
Abstract
Background/Objectives: This study aimed to improve the knowledge of seizures and epilepsy in children with neurofibromatosis type 1 (NF1) by evaluating the frequency, clinical characteristics, and risk for epilepsy in children with NF1. Methods: The retrospective study included all NF1 patients [...] Read more.
Background/Objectives: This study aimed to improve the knowledge of seizures and epilepsy in children with neurofibromatosis type 1 (NF1) by evaluating the frequency, clinical characteristics, and risk for epilepsy in children with NF1. Methods: The retrospective study included all NF1 patients aged one month to 18 years treated at the Institute from 2010 to 2025, who experienced seizures. Diagnosis of NF1 was made using revised diagnostic criteria from 2021. The seizures were classified according to the ILAE classification, updated in 2025. Further parameters were analyzed: sex, age at seizure onset, type and duration, electroencephalographic (EEG) findings, brain magnetic-resonance imaging (MRI), anti-seizure medications (ASMs), treatment response, and outcome. The patients were divided into two groups: epilepsy—NF1 patients (14) and non-epilepsy—NF1 patients (104). To evaluate the predictive factors for epilepsy in NF1 patients, univariate and multivariate logistic regression analyses were performed. Results: The study included 118 children with NF1. In 14 children (11.9%), a diagnosis of epilepsy was established. Ten of 14 children (71.4%) experienced SE. Good seizure control was achieved in 13/14. We found statistically significant predictive values of hydrocephalus (p = 0.001), brain atrophy (p = 0.002), and vasculopathy (p = 0.015) for epilepsy in children with NF1. Conclusions: In our cohort, the frequency of epilepsy in NF children was at least ten times higher than in the general population. The predictive factors for epilepsy were hydrocephalus, brain atrophy, and vasculopathy. Recommendations for rescue medication and parental education are important, since status epilepticus occurs in a high percentage of NF1 patients with epilepsy. Full article
(This article belongs to the Special Issue Neurofibromatosis and Schwannomatosis: Diagnosis and Management)
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