EMRAH AYTAÇ, Ayşegül AKYÜZ, Ceyla ATAÇ UÇAR, Cemile Sencer DEMİRCAN, Yonca TOPAL, Tahir Yoldaş KURTULUŞ

Nörofibromatozis Tip 1 ve Malign Periferik Sinir Kılıfı Tümörü

Ülkemizde nadir gözlenen bir hastalık olan nörofibromatozis (NF), deri, sinir sistemi ya da her ikisini birden tutan, genetik geçişli nörokutanöz heterojen bir hastalıktır. NF tip 1, 2500-3000 doğumda bir izlenir ve bu hastalıktan 17q11.2 genindeki defekt sorumlu tutulmuştur. Kardinal bulguları; nörofibromlar, cafe au lait lekeleri, aksiller-inguinal çillenme ve iris hamartomlarıdır (Lisch nodülleri). 22 yaşındaki kadın hastamız radiküler ağrı nedeniyle araştırılırken nörofibromlar, cafe au lait lekeleri, lisch nodülleri ile beraber sinir sisteminde sol sakroiliak bölgede malign periferik sinir kılıfı tümörü (MPSKT) saptandı. Bu bulgular eşliğinde nadir görülen NF1 ve MPSKT birlikteliği incelenmiştir. Sonuç olarak radiküler ağrı şikayeti ile başvuran nörofibromatozisli hastalarda semptomlar iyi değerlendirilmeli altta yatan malignite olasılığı düşünülüp gerekli görüntüleme yöntemleri planlanmalıdır.

Neurofibromatosis Type 1 and Malignant Peripheral Nerve Sheath Tumor

Neurofibromatosis is a genetically inherital neurocutanous heterogenous disorders which affects skin, nerveous sytem or both and is a rare disorder in our country. NF type1 which appears per 2500-3000 births, is a defect in the 17q11.2 gene which is responsible for disorders. Cardinal symptoms; neurofibromas, cafe au lait spots, axillar-inguinal freckle and iris hamartoms (lisch nodules). In our case of a 22-years-old women, we detected neurofibromas, cafe au lait spots, lisch nodules and malign periferal nerve sheath tumor (MPNST) in left sacroiliac region by evaluating the patient for radicular pain. Under the view of these symptoms a rare coexistence of NF1 and MPNST is reported. As a result, radicular pain in patients presenting with symptoms of neurofibromatosis should be considered as the high possibility of underlying malignancy and the necessary imaging methods need to be planned.

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