Sonay İNCESOY ÖZDEMİR, Ayşegül Neşe ÇITAK KURT, Sare Gülfem ÖZLÜ

NÖROFİBROMATOZİS TİP 1’DE KLİNİK VE RADYOLOJİK BULGULAR: TEK MERKEZ DENEYİMİ

Amaç: Bu çalışmada, Nörofibromatozis tip 1 (NF1) tanılı olgularımızın demografik, klinik, laboratuvarbulgularını ve tedavilerini geriye dönük olarak değerlendirmek ve Amerika Birleşik Devletleri Ulusal SağlıkEnstitüsü (NIH) tanı kriterlerine göre hastaları tanımlayarak literatür ile karşılaştırmak amaçlanmıştır.Materyal ve Metot: Ocak 2015-Ocak 2019 tarihleri arasında merkezimize başvuran ve NF1 tanısı ile izlenen18 olgunun klinik ve radyolojik bulguları geriye dönük olarak incelendi.Bulgular: Hastaların ilk başvurudaki ortanca yaşı 8 yıl (1-17 yıl) idi. Başvuru yakınmaları 16 olguda cilttekilekeler, 1 olguda karın ağrısı, 1 olguda çenede şişlik idi. Sütlü kahve lekeleri olguların tümünde,aksiller/inguinal çillenme 9’unda (%50), lisch nodülü 13’ünde (%72,22), kemik lezyonları 3’ünde (%16,66) [2olguda skolyoz ve 1 olguda lordoz], nörofibrom 1’inde (%5,55), pleksiform nörofibrom 1’inde (%5,55) görüldü.Boy kısalığı 3 (%16,66) olguda tespit edildi. Bunlardan biri büyüme hormonu eksikliği olarak değerlendirildi.Okula devam eden 10 hastadan, 5'inin (%27,77) ders başarısı kötüydü. Bu olgulardan 2’si(%11,11) dikkateksikliği hiperaktivite sendromu tanısı ile izlenmekte idi. Beyin manyetik rezonans görüntüleme (MRG)’de 6(%33,33) olguda hamartomatöz lezyon, 1(%5,55) olguda optik gliom saptandı.Sonuç: Araştırmamızda, hasta grubunun klinik ve radyolojik bulgularının literatür ile uyumlu olduğunusaptadık. Mortalite oranı kansere yatkınlık ve vaskülopatiler nedeni ile yüksek olan bu hastalıkta, gelişebilecekkomplikasyonların erken saptanması, izlemi ve tedavisi açısından, hastaların yaşam boyu multidisipliner takibigerekmektedir.

CLINICAL AND RADIOLOGICAL FEATURES OF NEUROFIBROMATOSIS TYPE 1: SINGLE CENTER'S EXPERIENCE

Objectives: The aim of this study was to review our institutional experience with the clinical characteristics, imaging findings, and therapies in Neurofibromatosis type 1 (NF1) and defining the patients according to the USA- National Institute of Health (NIH) diagnostic criteria and comparing them with the literature. Materials and Methods: Clinical and imaging findings of 18 children with NF1, treated at our hospital from January 2015 to January 2019, were retrospectively evaluated. Results: The study group included 18 children diagnosed with NF1 according to NIH diagnostic criteria. Thirteen patients were female and 5 were male. The median age at admission was 8 years (1-17 years). The presenting symptoms were cafe-au-laits spots in 16 cases, abdominal pain in 1 case and jaw swelling in 1 case. All patients had cafe-au-lait spots, 9 (50%) axillary / inguinal freckles, 13 (72.22%) lisch nodules, 3 (16.66%) bone lesions, 1 (5.55%) neurofibromas and 1 (5.55%) plexiform neurofibromas. Short stature was detected in 3 (16.66%) cases. One of them was evaluated as growth hormone deficiency. Of the 10 patients attending school, 5 (27.77%) had poor school performance. Two of these cases (11.11%) were being diagnosed with ADHD. On magnetic resonance imaging, 6 (33.33%) cases had hamartomatous lesion and 1 (5.55%) case optic glioma. Conclusion: We found that the clinical and radiological findings of the patient group were consistent with the literature. Multidisciplinary follow-up of patients throughout the lifetime is necessary for the early detection, follow-up and treatment of complications.

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