Abstract

Objective: Neurofibromatosis type 1 is a most common neurocutaneous syndrome characterized by multi-system
involvement and an increased incidence of both benign and malignant tumors. Its diagnosis and follow-up is important
because of increased cancer susceptibility in children. The aim of this study is to review the cranial MRI findings,
neoplastic and non-neoplastic lesions of the brain in neurofibromatosis type I in pediatric patients.

Material and Methods: 183 patients which diagnosed with neurofibromatosis type 1 and had at least 1 MRI between July 2010 and
March 2019 were evaluated. Twelve patients were siblings. Contrasted cranial MRI obtained from 82 female and 101 male patients,
between ages 1-18 years (averageage 10) retrospectively scanned thereafter type and locations of lesions evaluated by a 9 years
experienced radiologist.

Results: Out of 183 patients; 37 had no hamartomatous cranial lesions, 24 had optic gliomas or optic nerve thickening (9 bilaterally,
10 rightside, 5 leftside), 8 had plexiform neurofibromas (head or neck location), 9 had subcutaneous neurofibromas. Additionally 9
had intracranial arachnoid cysts, 6 low grade glial tumor, 1 medulloblastoma, 1 glioblastoma, 1 nodular heterotopia. Two patients had
suspected low grade glial tumor and their size and view are stableat follow-up. The most common localization of hamartomatous lesions
are the globus pallidus, dentate nucleus, mesencephalon, thalamus and pons respectively. The least common area is putamen. In
addition, 3 patients are followed with Noonan Syndrome. In two of these patients, intracranial arachnoid cysts were observed in addition
to hamartomatous lesions.

Conclusion: Neurofibromatosis type 1 is one of the tumor predisposition syndrome that leads to an increased incidence of malign and
benign tumors, which are major cause of mortality and morbidity. Gliomas are the most common intracranial tumors and the second most
common tumor type after neurofibromas. Regular follow up is important for early diagnosis and treatment of malignancy. Brain MRI is
adequate and necessary imaging modality for the diagnosis and follow up of brain involment in Neurofibromatosis type 1 patients.

Keywords: Brain, MRI,, Neurofibromatosis type 1

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How to cite

1.
Yılmaz Ş, Arıbaş Öz N, Akmaz Ünlü H, Alımlı AG, Sivri M. NeurofibromatosisType 1: Clinical and Brain MRI findings in pediatric patients. Turk J Pediatr Dis [Internet]. 2021 May 25 [cited 2025 May 25];15(3):181-6. Available from: https://turkjpediatrdis.org/article/view/784