Neurofibromatosis: Evaluation of Clinical Features of 39 Cases

Main Article Content

Olcay Güngör

Abstract

Objective: Our study aims to evaluate the clinical findings of childhood neurofibromatosis type 1 cases.


Material and Methods: The clinical features of childhood patients who were followed up and treated by Pamukkale University Faculty of Medicine, Department of Pediatric Neurology between 2015 and 2023 were evaluated retrospectively.


Results: 39 children were included in the study. Twenty-one of the cases were male and 18 were female. The mean age was 11.71±4.05 years. 11 (28.2%) patients had a family history of neurofibromatosis. Lisch nodule was seen in 14 patients, and axillary freckling was seen in 21 patients. Six of the cases had neurofibroma. Plexiform neurofibroma was not present in any of the cases. Four children had scoliosis. Nine of the cases had learning disabilities.


Conclusion: The symptoms, signs, and complications of the cases in our study are consistent with the literature. It was thought that the low number of complications was due to the young age of the cases. In this study, we emphasized the importance of early recognition of NF-1 in terms of informing families about the disease and preventing treatable complications with regular clinical follow-up of these children.

Downloads

Download data is not yet available.

Article Details

How to Cite
Güngör, O. (2023). Neurofibromatosis: Evaluation of Clinical Features of 39 Cases. Medical Science and Discovery, 10(6), 361–363. https://doi.org/10.36472/msd.v10i6.925
Section
Research Article
Received 2023-03-25
Accepted 2023-04-15
Published 2023-06-05

References

Kresak JL, Walsh M. Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. J Pediatr Genet 2016;5:98–104.

Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol 2009;61:1–14

Serra E, Puig S, Otero D, Gaona A, Kruyer H, Ars E, et al. Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. Am J Hum Genet 1997;61:512-9

Köse G, Özaydın E, Hasançebi B, Güven A. Neurofibromatosis Type-1:Clinical Evaluation of 44 Patients. Türkiye Klinikleri J Pediatr 2008;17:89–95

Ly KI, Blakeley JO. The Diagnosis and Management of Neurofibromatosis Type 1. Med Clin North Am 2019;103:1035-54

DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 2000;105:608–14

Khosrotehrani K, Bastuji-Garin S, Zeller J, Revuz J, Wolkenstein P. Clinical risk factors for mortality in patients with neurofibromatosis 1: a cohort study of 378 patients. Arch Dermatol 2003;139:187–91.

Bernier A, Larbrisseau A, Perreault S. Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature. Pediatr Neurol 2016;60:24–9.e1.

Swaiman KF, Ashwal S, Ferriero DM, Schor NF, Finkel RS, Gropman AL, et al. Swaiman’s Pediatric Neurology E-Book: Principles and Practice: Elsevier Health Sciences; 2017

Cassiman C, Legius E, Spileers W, Casteels I. Ophthalmological assessment of children with neurofibromatosis type 1. Eur J Pediatr 2013;172:1327-33

Lubs ML, Bauer MS, Formas ME, Djokic B. Lisch nodules in neurofibromatosis type 1. N Engl J Med 1991;324:1264-6.

Maharaj A, Singh VR, Lalchan SA. Lisch and the Importance of His Nodules. West Indian Med J 2014;63:799-802

Abdolrahimzadeh S, Plateroti AM, Recupero SM, Lambiase A.An Update on the Ophthalmologic Features in the Phakomatoses. J Ophthalmol 2016;2016:3043026.

Duffner PK, Cohen ME, Seidel FG, Shucard DW. The significance of MRI abnormalities in children with neurofibromatosis. Neurology 1989;39:373–8.

Vivarelli R, Grosso S, Calabrese F, Farnetani M, Di Bartolo R, Morgese G, et al. Epilepsy in neurofibromatosis 1. J Child Neurol 2003;18:338–42.

Gresham FM, MacMillan DL, Bocian KM. Learning disabilities, low achievement, and mild mental retardation: more alike than different? J Learn Disabil 1996;29:570–81.

Bizzarri C, Bottaro G. Endocrine implications of neurofibromatosis 1 in childhood. Horm Res Paediatr 2015;83:232–41

Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44:81-8.