DOI: 10.32322/jhsm.1964398 ISSN: 2636-8579

Beyond cutaneous findings: neurological and multisystem manifestations of neurofibromatosis type 1 in childhood-a single-center cohort study

Selcan Öztürk, Leyla Yücel, Hatice Hilal Kırkgöz, Süleyman Sunkak, Mustafa Argun
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Aims: Neurological involvement in neurofibromatosis type 1 (NF1) extends beyond its well-recognized cutaneous manifestations and may include epilepsy, neurodevelopmental disorders, and characteristic neuroimaging abnormalities. This study aimed to evaluate the neurological, electroencephalographic (EEG), neuroimaging, and systemic findings of children with NF1, with particular emphasis on EEG abnormalities and focal areas of signal intensity (FASI). Methods: The medical records of children diagnosed with NF1 between January 2020 and December 2025 were reviewed and analyzed in this retrospective single-center study.Results: Fifty children with genetically confirmed NF1 were included in the study. Epilepsy was present in 14% of patients, EEG was performed in 40 cases, and epileptiform abnormalities were detected in 57.5% of recordings. Brain magnetic resonance imaging was available for 40 patients, and FASI lesions were identified in 34 (85%) of the patients imaged, most commonly involving the cerebellum and thalamus. Combined supra- and infratentorial involvement was observed in 73.6% of cases. Neurodevelopmental abnormalities, including developmental delay, speech impairment, and autism spectrum disorder, were frequently encountered. Additional systemic manifestations affecting the cardiovascular, endocrine, and skeletal systems were also observed. Conclusion: Children with NF1 exhibit a high frequency of EEG abnormalities and widespread FASI involvement, supporting the concept of diffuse neurobiological involvement extending beyond cutaneous manifestations. The predominance of infratentorial FASI lesions and the high rate of EEG abnormalities highlight the importance of comprehensive neurological evaluation and neuroimaging surveillance in NF1. Multidisciplinary follow-up remains essential due to the disorder’s diverse neurological and systemic manifestations.

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