Şükriye YILMAZ, Nefise ARIBAŞ ÖZ, Havva AKMAZ ÜNLÜ, Ayşe Gül ALIMLI, Mesut SİVRİ

Nörofibromatozis Tip 1: Çocuk hastalarda Klinik ve Beyin MRG bulguları

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.

Anahtar Kelimeler:

Nörofibromatozis, beyin, MRG, tip 1

NeurofibromatosisType 1: Clinical and Brain MRI findings in pediatric patients

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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