NeurofibromatosisType 1: Clinical and Brain MRI findings in pediatric patients

Year 2021, Volume: 15 Issue: 3, 181 - 186, 25.05.2021

Şükriye Yılmaz , Nefise Arıbaş Öz Havva Akmaz Ünlü Ayşe Gül Alımlı , Mesut Sivri

https://doi.org/10.12956/tchd.635116

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

Nörofibromatozis Tip 1: Çocuk hastalarda Klinik ve Beyin MRG bulguları

Abstract

Amaç
: Nörofibromatozis tip 1, multisistem tutulumu, benign ve
malign tümörlerde normal popülasyona göre artmış görülme sıklığı ile
karakterize en sık görülen nörokutanöz sendromdur. Çocuklarda kanser sıklığını
artırması nedeniyle teşhisi ve takibi önemlidir.  Bu çalışmanın amacı nörofibromatozis tip I
tanısı ile takip edilen pediatrik hastalarda kraniyal MRG bulgularını, beynin
neoplastik ve neoplastik olmayan lezyonlarını, tanı kriterlerini ve tanıdaki
bulgularını incelemektir.

Gereç
ve Yöntemler: Temmuz 2010 ile Mart 2019
tarihleri arasında nörofibromatozis tip 1 tanısı almış ve en az 1 defa beyin
MRG yapılmış toplam 183 hasta değerlendirildi. On iki  hasta kardeşti. 82 kadın ve 101 erkek hasta
ortalama yaşı 10 (1-18 yaş) 9 yıl deneyimli bir radyolog tarafından değerlendirildi.

Bulgular:
183 hastadan; 37 hastada beyinde hamartomatous lezyon
yoktu, 24'ünde optik glioma veya optik sinir kalınlaşması (9 bilateral, 10 sağ,
5 sol taraf), 8'inde pleksiform nörofibrom (baş veya boyun), 9'unda subkutan
nörofibrom vardı.  Ek olarak 9 tanesinde
intrakranial araknoid kist, 6 düşük dereceli glial tümör, 1 medulloblastom, 1
glioblastom, 1 nodüler heterotopi vardı. İki hastada düşük dereceli glial tümör
şüphesi vardı ve izlemlerinde boyutları ve görünümleri stabildi. Hamartomatoz
lezyonların en sık yerleşim yeri globus pallidus, dentat nükleus, mezensefalon,
talamus ve pons, en az yerleşim yeri ise putamendi. Ayrıca 3 hasta noonan
sendromu ile takip ediliyordu. Bu hastaların ikisinde, hamartomatoz lezyonlara
ek olarak intrakraniyal araknoid kistler gözlendi.

Tartışma:  Nörofibromatozis
tip 1 hastalığı bu hastalarda mortalite ve morbidite nedeni olan malign ve
benign tümörlerin görülme sıklığında artışa yol açan tümör yatkınlık
sendromlarından biridir. Gliomalar en sık görülen intrakraniyal tümörlerdir ve
nörofibromlardan sonra en sık görülen ikinci tümör tipidir. Erken tanı ve
malignitenin tedavisi için düzenli takip önemlidir. Beyin MRG  Nörofibromatozis tip 1 hastalarında beyin
tutulumunun tanı ve takibinde yeterli ve gerekli görüntüleme yöntemidir.

Keywords

Nörofibromatozis, beyin, MRG, tip 1

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