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Nörofibromatozis Tip 1 Olgusunda Skolyoz

Nörofibromatozis Tip 1 (NF1) sinir dokusunu, kemikleri, yumuşak dokuyu ve deriyi tutan,otozomal dominant geçiş gösteren ve 4000 kişiden 1’inde görülen multisistemik bir hastalıktır.NF1’in karakteristik özellikleri; cafe au lait lekeleri, periferal nörofibromlar, Lisch nodülleri veaksiler çillenmedir. NF1’de kemik anomalilerine sıklıkla rastlanır. Skolyoz, NF1 ile ilişkili olduğu bildirilen biriskelet anomalisidir. Bel ağrısı ve 10 yıl önce sol kalça bölgesinde başlayan ve büyüyen kitleyakınmalarıyla başvuran ve sırtında cafe-au-lait lekesi olan 26 yaşındaki erkek olgumuza NF1ve NF1’e sekonder nondistrofik skolyoz tanısı koyduk. Günlük pratikte bel ağrısı şikayeti ilegelen hastalarda inspeksiyon ile cafe-au-lait lekeleri araştırılmasının ve bu lekeler görüldüğündeNF’den şüphelenilmesinin önemli olduğunu düşünüyoruz. Ayrıca NF1 tanısı alan ve bel ağrısıolan hastalarda skolyozun araştırılması gerektiğini vurgulamak istedik

Anahtar Kelimeler:

Nörofibromatozis, skolyoz, bel ağrısı

Scoliosis in a Case of Neurofibromatosis Type

Neurofibromatosis Type 1 (NF1) is a multisystemic disease, manifesting as abnormalities ofthe nervous tissue, bones, soft tissue, and skin. The entity is dominantly inherited and affects 1in 4000 individuals. Cafe-au-lait spots, peripheral neurofibromas, Lisch nodules and axillaryfreckling are the characteristics of NF1. Bone abnormalities are usually observed in NF1. Scoliosis is a skeletal anomaly reported to beassociated with NF1. We made a diagnosis of NF1 and scoliosis secondary to NF1 in our 26year-old male case with complaints of low back pain, a mass on his left hip beginning 10 yearsago and growing and with cafe-au-lait spots on his back. We think that, in daily practice, it isimportant to look for cafe-au-lait spots with inspection in the patients coming with the complaintof low back pain and when these spots are observed a diagnosis of NF1 should be suspected.Besides, we wanted to emphasize that scoliosis should be searched in the patients with adiagnosis of NF1 and low back pain

Keywords:

Neurofibromatosis, scoliosis, low back pain,

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