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

doi:10.32322/jhsm.1964398

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

Abstract

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.

Keywords

References

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Details

Primary Language

English

Subjects

Pediatric Neurology, Neurology and Neuromuscular Diseases

Journal Section

Research Article

Authors

Selcan Öztürk ^*
0000-0002-3517-2983
Türkiye

Leyla Yücel
0009-0006-4476-1962
Türkiye

Hatice Hilal Kırkgöz
0000-0003-1098-7024
Türkiye

Süleyman Sunkak
0000-0002-6191-9403
Türkiye

Mustafa Argun
0000-0003-2357-7980
Türkiye

Publication Date

October 25, 2026

Submission Date

June 6, 2026

Acceptance Date

October 20, 2026

Published in Issue

Year 2026 Volume: 9 Number: 6

DOI

https://doi.org/10.32322/jhsm.1964398

IZ

https://izlik.org/JA94CZ93MD

Cite

RIS / Bibtex

APA

Öztürk, S., Yücel, L., Kırkgöz, H. H., Sunkak, S., & Argun, M. (2026). Beyond cutaneous findings: neurological and multisystem manifestations of neurofibromatosis type 1 in childhood-a single-center cohort study. Journal of Health Sciences and Medicine, 9(6), 1882-1886. https://doi.org/10.32322/jhsm.1964398

AMA

1.Öztürk S, Yücel L, Kırkgöz HH, Sunkak S, Argun M. Beyond cutaneous findings: neurological and multisystem manifestations of neurofibromatosis type 1 in childhood-a single-center cohort study. J Health Sci Med / JHSM. 2026;9(6):1882-1886. doi:10.32322/jhsm.1964398

Chicago

Öztürk, Selcan, Leyla Yücel, Hatice Hilal Kırkgöz, Süleyman Sunkak, and Mustafa Argun. 2026. “Beyond Cutaneous Findings: Neurological and Multisystem Manifestations of Neurofibromatosis Type 1 in Childhood-a Single-Center Cohort Study”. Journal of Health Sciences and Medicine 9 (6): 1882-86. https://doi.org/10.32322/jhsm.1964398.

EndNote

Öztürk S, Yücel L, Kırkgöz HH, Sunkak S, Argun M (October 1, 2026) Beyond cutaneous findings: neurological and multisystem manifestations of neurofibromatosis type 1 in childhood-a single-center cohort study. Journal of Health Sciences and Medicine 9 6 1882–1886.

IEEE

[1]S. Öztürk, L. Yücel, H. H. Kırkgöz, S. Sunkak, and M. Argun, “Beyond cutaneous findings: neurological and multisystem manifestations of neurofibromatosis type 1 in childhood-a single-center cohort study”, J Health Sci Med / JHSM, vol. 9, no. 6, pp. 1882–1886, Oct. 2026, doi: 10.32322/jhsm.1964398.

ISNAD

Öztürk, Selcan - Yücel, Leyla - Kırkgöz, Hatice Hilal - Sunkak, Süleyman - Argun, Mustafa. “Beyond Cutaneous Findings: Neurological and Multisystem Manifestations of Neurofibromatosis Type 1 in Childhood-a Single-Center Cohort Study”. Journal of Health Sciences and Medicine 9/6 (October 1, 2026): 1882-1886. https://doi.org/10.32322/jhsm.1964398.

JAMA

1.Öztürk S, Yücel L, Kırkgöz HH, Sunkak S, Argun M. Beyond cutaneous findings: neurological and multisystem manifestations of neurofibromatosis type 1 in childhood-a single-center cohort study. J Health Sci Med / JHSM. 2026;9:1882–1886.

MLA

Öztürk, Selcan, et al. “Beyond Cutaneous Findings: Neurological and Multisystem Manifestations of Neurofibromatosis Type 1 in Childhood-a Single-Center Cohort Study”. Journal of Health Sciences and Medicine, vol. 9, no. 6, Oct. 2026, pp. 1882-6, doi:10.32322/jhsm.1964398.

Vancouver

1.Selcan Öztürk, Leyla Yücel, Hatice Hilal Kırkgöz, Süleyman Sunkak, Mustafa Argun. Beyond cutaneous findings: neurological and multisystem manifestations of neurofibromatosis type 1 in childhood-a single-center cohort study. J Health Sci Med / JHSM. 2026 Oct. 1;9(6):1882-6. doi:10.32322/jhsm.1964398